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 NMNAT1 0 genome.wustl.edu 37 1 10032368 10032368 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 10032368 10032368 A C SNP NMNAT1 ENST00000492735 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors NMNAT1 HGNC ENSG00000173614 35 0 0 25 9 26.4706 AGL 0 genome.wustl.edu 37 1 100380956 100380956 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 100380956 100380956 C T SNP AGL ENST00000294724 human ensembl 74_37 +1 known silent c.4173 p.L1391 1.000 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 97 0 0 71 41 36.6071 HIAT1 0 genome.wustl.edu 37 1 100533605 100533605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 100533605 100533605 G A SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.559 p.D187N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 154 0 0 72 35 32.7103 SASS6 0 genome.wustl.edu 37 1 100587965 100587965 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 100587965 100587965 A G SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known silent c.282 p.C94 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 46 0 0 41 20 32.7869 RBP7 0 genome.wustl.edu 37 1 10068312 10068312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 10068312 10068312 G A SNP RBP7 ENST00000294435 human ensembl 74_37 +1 known missense c.334 p.E112K 0.994 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP7 HGNC ENSG00000162444 63 0 0 32 12 27.2727 VCAM1 0 genome.wustl.edu 37 1 101198116 101198116 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 101198116 101198116 G A SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known silent c.1668 p.Q556 0.417 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 127 0 0 40 36 47.3684 VCAM1 0 genome.wustl.edu 37 1 101203687 101203687 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 101203687 101203687 A C SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.2068 p.N690H 0.005 NULL pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 206 0 0 126 92 42.2018 SLC30A7 0 genome.wustl.edu 37 1 101361884 101361884 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 101361884 101361884 C T SNP SLC30A7 ENST00000357650 human ensembl 74_37 +1 novel silent c.66 p.I22 0.989 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A7 HGNC ENSG00000162695 67 0 0 36 20 35.7143 SLC30A7 0 genome.wustl.edu 37 1 101362221 101362221 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 101362221 101362221 G A SNP SLC30A7 ENST00000357650 human ensembl 74_37 +1 novel missense c.176 p.S59N 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A7 HGNC ENSG00000162695 38 0 0 20 13 39.3939 COL11A1 0 genome.wustl.edu 37 1 103345388 103345388 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 103345388 103345388 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5161 p.N1721H 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 121 0 0 65 26 28.5714 COL11A1 0 genome.wustl.edu 37 1 103355106 103355106 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 103355106 103355106 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4405 p.L1469V 0.997 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 72 0 0 62 30 32.6087 COL11A1 0 genome.wustl.edu 37 1 103412431 103412431 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 103412431 103412431 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3286 p.G1096S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 26 0 0 36 6 14.2857 KIF1B 0 genome.wustl.edu 37 1 10423363 10423363 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 10423363 10423363 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.4189 p.E1397K 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 110 0 0 69 39 36.1111 PGD 0 genome.wustl.edu 37 1 10460491 10460491 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 10460491 10460491 C A SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.126 p.F42L 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 131 0 0 59 33 35.8696 PGD 0 genome.wustl.edu 37 1 10473290 10473290 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 10473290 10473290 G A SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.826 p.V276I 0.508 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 94 0 0 38 16 29.6296 PEX14 0 genome.wustl.edu 37 1 10687419 10687419 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 10687419 10687419 C T SNP PEX14 ENST00000356607 human ensembl 74_37 +1 known missense c.676 p.R226W 1.000 NULL pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 81 0 0 42 16 27.5862 NTNG1 0 genome.wustl.edu 37 1 107867344 107867344 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 107867344 107867344 C T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known silent c.687 p.F229 0.522 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 93 0 0 48 21 30.4348 VAV3 0 genome.wustl.edu 37 1 108298072 108298072 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 108298072 108298072 A C SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.1150 p.F384V 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 39 0 0 16 7 30.4348 SLC25A24 0 genome.wustl.edu 37 1 108728461 108728461 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 108728461 108728461 T G SNP SLC25A24 ENST00000565488 human ensembl 74_37 -1 known missense c.299 p.K100T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 13 0 0 19 4 17.3913 HENMT1 0 genome.wustl.edu 37 1 109191357 109191357 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 109191357 109191357 T G SNP HENMT1 ENST00000370031 human ensembl 74_37 -1 known missense c.1106 p.K369T 0.000 NULL NULL - no_errors HENMT1 HGNC ENSG00000162639 104 0 0 49 31 38.75 AKNAD1 0 genome.wustl.edu 37 1 109373197 109373197 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 109373197 109373197 G A SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.1822 p.R608C 0.033 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 94 0 0 53 21 28.3784 GPSM2 0 genome.wustl.edu 37 1 109440141 109440141 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 109440141 109440141 G A SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known silent c.306 p.A102 0.845 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 45 0 0 40 14 25.9259 GPSM2 0 genome.wustl.edu 37 1 109445747 109445747 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 109445747 109445747 G T SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known splice_site c.954-1 e8-1 1.000 - - - no_errors GPSM2 HGNC ENSG00000121957 53 0 0 32 14 30.4348 KIAA1324 0 genome.wustl.edu 37 1 109742851 109742851 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 109742851 109742851 G T SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known missense c.2799 p.K933N 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 158 0 0 96 36 27.2727 CELSR2 0 genome.wustl.edu 37 1 109808788 109808788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 109808788 109808788 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.5973 p.F1991 0.985 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 110 0 0 52 27 34.1772 GNAI3 0 genome.wustl.edu 37 1 110116549 110116549 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 110116549 110116549 G A SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known missense c.193 p.E65K 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 54 0 0 51 20 28.169 EPS8L3 0 genome.wustl.edu 37 1 110294175 110294175 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 110294175 110294175 G A SNP EPS8L3 ENST00000475725 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPS8L3 HGNC ENSG00000198758 70 0 0 19 11 36.6667 EPS8L3 0 genome.wustl.edu 37 1 110301280 110301280 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 110301280 110301280 C T SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.470 p.R157Q 0.002 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 123 0 0 53 11 17.1875 RBM15 0 genome.wustl.edu 37 1 110884015 110884015 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 110884015 110884015 G A SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.1988 p.R663Q 0.153 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 67 0 0 24 19 44.186 KCNA10 0 genome.wustl.edu 37 1 111060927 111060927 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111060927 111060927 G T SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known silent c.483 p.I161 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 144 0 0 57 20 25.974 KCNA3 0 genome.wustl.edu 37 1 111216495 111216495 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111216495 111216495 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.937 p.R313W 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 159 0 0 67 56 45.5285 KCNA3 0 genome.wustl.edu 37 1 111217087 111217087 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111217087 111217087 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.345 p.F115 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 126 0 0 52 27 34.1772 KCNA3 0 genome.wustl.edu 37 1 111217183 111217183 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111217183 111217183 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.249 p.C83 0.392 prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 15 0 0 12 11 47.8261 CD53 0 genome.wustl.edu 37 1 111440442 111440442 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111440442 111440442 G A SNP CD53 ENST00000271324 human ensembl 74_37 +1 known silent c.516 p.A172 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD53 HGNC ENSG00000143119 115 0 0 71 29 29 LRIF1 0 genome.wustl.edu 37 1 111492561 111492561 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111492561 111492561 C T SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.1781 p.G594E 0.016 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 172 0 0 93 51 35.4167 DRAM2 0 genome.wustl.edu 37 1 111661436 111661436 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111661436 111661436 A G SNP DRAM2 ENST00000286692 human ensembl 74_37 -1 known silent c.684 p.R228 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM2 HGNC ENSG00000156171 28 0 0 19 12 38.7097 MTOR 0 genome.wustl.edu 37 1 11169375 11169375 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 11169375 11169375 A C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.7500 p.I2500M 0.859 pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 161 0 0 90 42 31.8182 CEPT1 0 genome.wustl.edu 37 1 111725286 111725286 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111725286 111725286 T G SNP CEPT1 ENST00000483427 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CEPT1 HGNC ENSG00000134255 25 0 0 10 6 37.5 ENSG00000229283 0 genome.wustl.edu 37 1 111866530 111866530 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111866530 111866530 T G SNP ENSG00000229283 ENST00000426321 human ensembl 74_37 -1 known rna NULL NULL 0.559 - - - no_errors RP5-1125M8.2 Clone_based_vega_gene ENSG00000229283 55 0 0 16 16 50 PIFO 0 genome.wustl.edu 37 1 111889538 111889538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 111889538 111889538 C T SNP PIFO ENST00000369738 human ensembl 74_37 +1 known missense c.26 p.A9V 0.000 NULL NULL - no_errors PIFO HGNC ENSG00000173947 122 0 0 41 18 30.5085 MTOR 0 genome.wustl.edu 37 1 11298651 11298651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 11298651 11298651 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1810 p.R604C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 52 0 0 19 9 32.1429 LRIG2 0 genome.wustl.edu 37 1 113638552 113638552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 113638552 113638552 G A SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.860 p.R287Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 83 0 0 48 23 32.3944 LRIG2 0 genome.wustl.edu 37 1 113638635 113638635 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 113638635 113638635 G A SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.943 p.E315K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 74 0 0 42 21 33.3333 MAGI3 0 genome.wustl.edu 37 1 114128214 114128214 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114128214 114128214 C T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known silent c.759 p.N253 0.003 smart_GK/Ca_channel_bsu pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 75 0 0 43 18 29.5082 PHTF1 0 genome.wustl.edu 37 1 114246728 114246728 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114246728 114246728 G A SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.1865 p.S622L 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 52 0 0 28 14 33.3333 DCLRE1B 0 genome.wustl.edu 37 1 114454281 114454281 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114454281 114454281 C T SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.1067 p.S356F 0.990 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 135 0 0 66 29 30.5263 SYT6 0 genome.wustl.edu 37 1 114682360 114682360 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114682360 114682360 G A SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.389 p.A130V 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 142 0 0 86 39 31.2 TRIM33 0 genome.wustl.edu 37 1 114940495 114940495 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114940495 114940495 G T SNP TRIM33 ENST00000478032 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TRIM33 HGNC ENSG00000197323 135 0 0 124 48 27.907 TRIM33 0 genome.wustl.edu 37 1 114964188 114964188 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114964188 114964188 C T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1931 p.S644N 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 130 0 0 56 36 39.1304 TRIM33 0 genome.wustl.edu 37 1 114976274 114976274 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 114976274 114976274 A C SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1005 p.N335K 1.000 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 79 0 0 52 32 38.0952 TRIM33 0 genome.wustl.edu 37 1 115006983 115006983 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115006983 115006983 C T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 smart_Znf_PHD,pfscan_Znf_RING pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 74 0 0 39 43 52.439 DENND2C 0 genome.wustl.edu 37 1 115130017 115130017 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115130017 115130017 G A SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2746 p.R916W 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 310 1 0.321543 149 85 36.3248 DENND2C 0 genome.wustl.edu 37 1 115168177 115168177 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115168177 115168177 G T SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.429 p.F143L 0.994 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 120 0 0 59 38 39.1753 DENND2C 0 genome.wustl.edu 37 1 115168398 115168398 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115168398 115168398 T G SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.208 p.N70H 0.048 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 207 0 0 118 63 34.8066 DENND2C 0 genome.wustl.edu 37 1 115168534 115168534 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115168534 115168534 T G SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.72 p.K24N 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 177 0 0 110 54 32.9268 AMPD1 0 genome.wustl.edu 37 1 115216304 115216304 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115216304 115216304 C T SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.2140 p.E714K 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 99 0 0 51 45 46.875 AMPD1 0 genome.wustl.edu 37 1 115218219 115218219 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115218219 115218219 C A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1710 p.K570N 0.987 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 171 0 0 84 42 33.3333 AMPD1 0 genome.wustl.edu 37 1 115226903 115226903 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115226903 115226903 A C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.563 p.F188C 0.750 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 101 0 0 86 8 8.51064 SIKE1 0 genome.wustl.edu 37 1 115321741 115321741 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115321741 115321741 G A SNP SIKE1 ENST00000462123 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SIKE1 HGNC ENSG00000052723 115 0 0 63 31 32.9787 SYCP1 0 genome.wustl.edu 37 1 115428199 115428199 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115428199 115428199 T C SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known silent c.954 p.H318 0.961 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 52 0 0 51 24 32 TSHB 0 genome.wustl.edu 37 1 115576140 115576140 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 115576140 115576140 A G SNP TSHB ENST00000256592 human ensembl 74_37 +1 known missense c.157 p.T53A 1.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors TSHB HGNC ENSG00000134200 203 0 0 123 59 32.4176 PTCHD2 0 genome.wustl.edu 37 1 11580781 11580781 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 11580781 11580781 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.2238 p.F746 0.998 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 62 0 0 32 13 28.8889 PTCHD2 0 genome.wustl.edu 37 1 11586750 11586750 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 11586750 11586750 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2656 p.A886T 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 331 0 0 134 78 36.7925 ATP1A1 0 genome.wustl.edu 37 1 116941321 116941321 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 116941321 116941321 G A SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.2203 p.G735R 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 234 0 0 108 50 31.6456 CD101 0 genome.wustl.edu 37 1 117560012 117560012 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117560012 117560012 A C SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1529 p.E510A 0.214 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 137 0 0 56 49 46.6667 CD101 0 genome.wustl.edu 37 1 117568169 117568169 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117568169 117568169 A C SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.2467 p.N823H 0.087 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 105 0 0 74 31 29.5238 TTF2 0 genome.wustl.edu 37 1 117617849 117617849 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117617849 117617849 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.643 p.D215N 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 188 0 0 87 50 36.4964 TTF2 0 genome.wustl.edu 37 1 117631460 117631460 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117631460 117631460 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2198 p.R733Q 0.979 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 181 0 0 86 63 42.2819 TTF2 0 genome.wustl.edu 37 1 117632771 117632771 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117632771 117632771 A G SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2437 p.T813A 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 242 0 0 143 55 27.7778 TRIM45 0 genome.wustl.edu 37 1 117659354 117659354 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117659354 117659354 G A SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known silent c.1236 p.A412 0.989 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 88 0 0 38 19 33.3333 DRAXIN 0 genome.wustl.edu 37 1 11772432 11772432 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 11772432 11772432 G A SNP DRAXIN ENST00000294485 human ensembl 74_37 +1 known missense c.793 p.E265K 0.107 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 145 0 0 86 39 31.2 MAN1A2 0 genome.wustl.edu 37 1 117910770 117910770 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117910770 117910770 G T SNP MAN1A2 ENST00000482811 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors MAN1A2 HGNC ENSG00000198162 116 0 0 60 28 31.8182 MAN1A2 0 genome.wustl.edu 37 1 117944919 117944919 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 117944919 117944919 G A SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known silent c.414 p.Q138 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 55 0 0 46 20 30.303 MAN1A2 0 genome.wustl.edu 37 1 118065574 118065574 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 118065574 118065574 C T SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known nonsense c.1921 p.R641* 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 132 0 0 77 39 33.6207 MTHFR 0 genome.wustl.edu 37 1 11851348 11851348 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 11851348 11851348 C T SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known silent c.1791 p.P597 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 82 0 0 34 15 30.6122 SPAG17 0 genome.wustl.edu 37 1 118514668 118514668 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 118514668 118514668 C A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.6144 p.V2048 0.209 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 56 0 0 28 11 28.2051 SPAG17 0 genome.wustl.edu 37 1 118583459 118583459 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 118583459 118583459 G A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.3060 p.H1020 0.006 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 61 0 0 46 6 11.5385 SPAG17 0 genome.wustl.edu 37 1 118616546 118616546 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 118616546 118616546 C A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.2316 p.K772N 0.993 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 168 0 0 119 71 37.3684 WARS2 0 genome.wustl.edu 37 1 119575586 119575586 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 119575586 119575586 T G SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.1031 p.E344A 1.000 tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 177 0 0 88 28 24.1379 HAO2 0 genome.wustl.edu 37 1 119927408 119927408 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 119927408 119927408 C T SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known missense c.332 p.A111V 0.675 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 73 0 0 47 27 36.4865 HAO2 0 genome.wustl.edu 37 1 119935134 119935134 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 119935134 119935134 C T SNP HAO2 ENST00000482991 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors HAO2 HGNC ENSG00000116882 35 0 0 12 7 36.8421 HSD3B1 0 genome.wustl.edu 37 1 120056677 120056677 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 120056677 120056677 C T SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known silent c.537 p.G179 0.933 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 190 0 0 90 63 41.1765 PLOD1 0 genome.wustl.edu 37 1 12024810 12024810 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12024810 12024810 G A SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1579 p.D527N 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 173 0 0 84 43 33.8583 HMGCS2 0 genome.wustl.edu 37 1 120298174 120298174 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 120298174 120298174 C A SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known missense c.1063 p.A355S 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 794 0 0 429 159 27.0408 NOTCH2 0 genome.wustl.edu 37 1 120480508 120480508 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 120480508 120480508 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known silent c.3309 p.V1103 0.998 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 81 0 0 46 17 26.9841 VPS13D 0 genome.wustl.edu 37 1 12328891 12328891 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12328891 12328891 A C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.1930 p.K644Q 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 167 0 0 82 58 41.4286 VPS13D 0 genome.wustl.edu 37 1 12337735 12337735 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12337735 12337735 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.4090 p.D1364Y 0.726 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 112 0 0 77 46 37.3984 VPS13D 0 genome.wustl.edu 37 1 12395786 12395786 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12395786 12395786 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.8453 p.S2818L 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 143 0 0 71 35 33.0189 AADACL4 0 genome.wustl.edu 37 1 12711190 12711190 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12711190 12711190 C T SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known missense c.217 p.R73C 0.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 136 0 0 59 46 43.8095 PRAMEF12 0 genome.wustl.edu 37 1 12837573 12837573 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12837573 12837573 G T SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.1283 p.R428I 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 202 1 0.492611 98 49 33.3333 HNRNPCL1 0 genome.wustl.edu 37 1 12907715 12907715 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12907715 12907715 G A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.428 p.S143L 0.987 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 359 1 0.277778 145 121 45.4887 HNRNPCL1 0 genome.wustl.edu 37 1 12907963 12907963 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12907963 12907963 C A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.180 p.E60D 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 224 0 0 159 20 11.1732 HNRNPCL1 0 genome.wustl.edu 37 1 12908038 12908038 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12908038 12908038 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known silent c.105 p.A35 0.998 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 312 0 0 243 20 7.60456 PRAMEF2 0 genome.wustl.edu 37 1 12920008 12920008 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12920008 12920008 G T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known nonsense c.748 p.E250* 0.000 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 350 2 0.568182 183 64 25.9109 PRAMEF4 0 genome.wustl.edu 37 1 12939377 12939377 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12939377 12939377 T C SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known silent c.1425 p.Q475 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 233 0 0 149 33 18.1319 PRAMEF4 0 genome.wustl.edu 37 1 12941803 12941803 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12941803 12941803 G A SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known silent c.747 p.Y249 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 480 0 0 249 120 32.5203 PRAMEF7 0 genome.wustl.edu 37 1 12980012 12980012 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 12980012 12980012 G A SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known missense c.1204 p.G402R 0.000 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 47 0 0 19 16 45.7143 PRAMEF6 0 genome.wustl.edu 37 1 13001306 13001306 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 13001306 13001306 A C SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.377 p.L126R 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 780 0 0 439 114 20.6148 CCNL2 0 genome.wustl.edu 37 1 1326209 1326209 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 1326209 1326209 G A SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known silent c.696 p.F232 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 139 0 0 85 37 30.3279 PDPN 0 genome.wustl.edu 37 1 13936969 13936969 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 13936969 13936969 C T SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.517 p.P173S 0.005 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 120 0 0 91 33 26.6129 PDPN 0 genome.wustl.edu 37 1 13940804 13940804 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 13940804 13940804 C T SNP PDPN ENST00000488631 human ensembl 74_37 +1 known nonsense c.124 p.Q42* 0.003 NULL NULL - no_errors PDPN HGNC ENSG00000162493 113 0 0 55 29 34.5238 PRDM2 0 genome.wustl.edu 37 1 14106701 14106701 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 14106701 14106701 A C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.2411 p.K804T 0.954 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 78 0 0 56 25 30.8642 PRDM2 0 genome.wustl.edu 37 1 14108921 14108921 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 14108921 14108921 T C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.4631 p.V1544A 0.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 145 0 0 72 48 40 ENSG00000203849 0 genome.wustl.edu 37 1 142713738 142713738 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 142713738 142713738 T G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.170 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 41 0 0 39 30 43.4783 LOC101927345 0 genome.wustl.edu 37 1 143378878 143378878 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 143378878 143378878 C A SNP LOC101927345 ENST00000423394 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 107 0 0 84 45 34.8837 ENSG00000231734 0 genome.wustl.edu 37 1 143720165 143720165 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 143720165 143720165 T C SNP ENSG00000231734 ENST00000417260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP6-206I17.2 Clone_based_vega_gene ENSG00000231734 11 0 0 3 4 57.1429 NBPF9 0 genome.wustl.edu 37 1 144818131 144818131 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 144818131 144818131 A C SNP NBPF9 ENST00000472811 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NBPF9 HGNC ENSG00000168614 18 0 0 10 12 54.5455 PDE4DIP 0 genome.wustl.edu 37 1 144854531 144854531 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 144854531 144854531 G T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6939 p.F2313L 0.998 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 348 0 0 295 28 8.66873 PDE4DIP 0 genome.wustl.edu 37 1 144923689 144923689 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 144923689 144923689 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known splice_site c.768+1 e6+1 1.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 346 0 0 286 46 13.8554 PDE4DIP 0 genome.wustl.edu 37 1 144955243 144955243 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 144955243 144955243 T C SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.191 p.D64G 1.000 pfam_Spindle_assoc pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 64 0 0 40 28 41.1765 PDE4DIP 0 genome.wustl.edu 37 1 145075016 145075016 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 145075016 145075016 T G SNP PDE4DIP ENST00000369345 human ensembl 74_37 -1 putative missense c.278 p.K93T 0.010 NULL NULL - no_errors PDE4DIP HGNC ENSG00000178104 85 0 0 80 9 10.1124 SEC22B 0 genome.wustl.edu 37 1 145103956 145103956 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 145103956 145103956 C T SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 44 0 0 40 12 23.0769 NBPF10 0 genome.wustl.edu 37 1 145325967 145325967 + Silent SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 145325967 145325967 G C SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known silent c.3840 p.L1280 0.017 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 96 0 0 84 25 22.9358 HFE2 0 genome.wustl.edu 37 1 145415691 145415691 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 145415691 145415691 C T SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known silent c.510 p.F170 1.000 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 134 0 0 63 64 50.3937 HFE2 0 genome.wustl.edu 37 1 145416773 145416773 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 145416773 145416773 T G SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.1118 p.F373C 1.000 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 98 0 0 65 31 32.2917 TXNIP 0 genome.wustl.edu 37 1 145438759 145438759 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 145438759 145438759 C A SNP TXNIP ENST00000475171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNIP HGNC ENSG00000117289 49 0 0 32 42 56.7568 FMO5 0 genome.wustl.edu 37 1 146672742 146672742 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 146672742 146672742 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.1175 p.V392A 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 94 0 0 47 47 50 FMO5 0 genome.wustl.edu 37 1 146683979 146683979 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 146683979 146683979 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known silent c.612 p.I204 0.002 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 133 0 0 85 84 49.7041 BCL9 0 genome.wustl.edu 37 1 147091096 147091096 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 147091096 147091096 G T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known nonsense c.1135 p.E379* 1.000 pfam_BCL9_beta-catenin-bd_dom pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 199 0 0 188 48 20.339 ACP6 0 genome.wustl.edu 37 1 147119196 147119196 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 147119196 147119196 A C SNP ACP6 ENST00000460583 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors ACP6 HGNC ENSG00000162836 136 0 0 122 37 23.2704 NBPF16 0 genome.wustl.edu 37 1 148756510 148756510 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 148756510 148756510 G A SNP NBPF16 ENST00000417839 human ensembl 74_37 +1 known silent c.1839 p.S613 0.010 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF16 HGNC ENSG00000203827 45 0 0 43 7 14 LOC100293748 0 genome.wustl.edu 37 1 149262414 149262414 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 149262414 149262414 A G SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 0.966 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 183 0 0 139 51 26.8421 SV2A 0 genome.wustl.edu 37 1 149879607 149879607 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 149879607 149879607 A G SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.1531 p.Y511H 1.000 pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 166 0 0 73 74 50.3401 PLEKHO1 0 genome.wustl.edu 37 1 150128372 150128372 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150128372 150128372 T G SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known missense c.290 p.L97R 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 102 0 0 101 19 15.8333 ANP32E 0 genome.wustl.edu 37 1 150204192 150204192 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150204192 150204192 C A SNP ANP32E ENST00000314136 human ensembl 74_37 -1 known nonsense c.127 p.E43* 1.000 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 105 0 0 99 38 27.7372 ECM1 0 genome.wustl.edu 37 1 150485203 150485203 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150485203 150485203 A C SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.1388 p.K463T 0.989 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 367 0 0 309 91 22.75 CTSS 0 genome.wustl.edu 37 1 150737226 150737226 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150737226 150737226 A G SNP CTSS ENST00000368985 human ensembl 74_37 -1 known missense c.14 p.V5A 0.000 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 158 0 0 91 82 47.3988 ARNT 0 genome.wustl.edu 37 1 150784538 150784538 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150784538 150784538 C A SNP ARNT ENST00000358595 human ensembl 74_37 -1 known nonsense c.2329 p.E777* 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 87 0 0 97 15 13.3929 SETDB1 0 genome.wustl.edu 37 1 150902487 150902487 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150902487 150902487 A C SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.305 p.K102T 0.948 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 155 0 0 74 105 58.6592 SETDB1 0 genome.wustl.edu 37 1 150915523 150915523 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150915523 150915523 A C SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.869 p.K290T 1.000 smart_Tudor pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 139 0 0 115 52 31.1377 CERS2 0 genome.wustl.edu 37 1 150941396 150941396 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 150941396 150941396 C T SNP CERS2 ENST00000271688 human ensembl 74_37 -1 known silent c.171 p.E57 1.000 pirsf_Longevity_assurance_LAG1_LAC1 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 132 0 0 118 27 18.6207 ZNF687 0 genome.wustl.edu 37 1 151260430 151260430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151260430 151260430 C T SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.1663 p.R555W 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 148 0 0 58 75 56.391 RFX5 0 genome.wustl.edu 37 1 151315152 151315152 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151315152 151315152 T C SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.1361 p.D454G 0.949 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 606 0 0 418 171 29.0323 SELENBP1 0 genome.wustl.edu 37 1 151338253 151338253 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151338253 151338253 C T SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known missense c.1039 p.E347K 0.998 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 351 0 0 263 83 23.9884 PSMB4 0 genome.wustl.edu 37 1 151372650 151372650 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151372650 151372650 C A SNP PSMB4 ENST00000290541 human ensembl 74_37 +1 known missense c.334 p.L112I 0.985 pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B - no_errors PSMB4 HGNC ENSG00000159377 242 0 0 180 48 21.0526 POGZ 0 genome.wustl.edu 37 1 151378310 151378310 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151378310 151378310 G T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.3201 p.I1067 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 129 0 0 90 21 18.9189 CGN 0 genome.wustl.edu 37 1 151492667 151492667 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151492667 151492667 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.899 p.R300Q 0.987 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 61 0 0 45 15 25 CELF3 0 genome.wustl.edu 37 1 151688369 151688369 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 151688369 151688369 T C SNP CELF3 ENST00000290583 human ensembl 74_37 -1 known missense c.128 p.Y43C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 125 0 0 74 51 40.8 TCHHL1 0 genome.wustl.edu 37 1 152057614 152057614 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152057614 152057614 G T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known silent c.2544 p.V848 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 162 0 0 111 28 20.1439 TCHHL1 0 genome.wustl.edu 37 1 152060019 152060019 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152060019 152060019 G A SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.139 p.P47S 1.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 80 0 0 84 31 26.9565 HRNR 0 genome.wustl.edu 37 1 152185824 152185824 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152185824 152185824 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known nonsense c.8281 p.R2761* 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 290 0 0 120 144 54.5455 HRNR 0 genome.wustl.edu 37 1 152187700 152187700 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152187700 152187700 T C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6405 p.Q2135 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 895 0 0 835 135 13.9175 HRNR 0 genome.wustl.edu 37 1 152188414 152188414 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152188414 152188414 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.5691 p.Y1897 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 857 1 0.11655 811 237 22.6145 FLG 0 genome.wustl.edu 37 1 152275925 152275925 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152275925 152275925 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11437 p.T3813A 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 725 0 0 587 161 21.5241 FLG 0 genome.wustl.edu 37 1 152276355 152276355 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152276355 152276355 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.11007 p.G3669 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 494 1 0.20202 352 151 30.0199 FLG 0 genome.wustl.edu 37 1 152279151 152279151 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152279151 152279151 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.8211 p.S2737 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 280 0 0 244 37 13.1673 FLG 0 genome.wustl.edu 37 1 152279605 152279605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152279605 152279605 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7757 p.S2586F 0.029 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 283 0 0 139 145 51.0563 FLG 0 genome.wustl.edu 37 1 152285754 152285754 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152285754 152285754 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.1608 p.V536 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 825 0 0 587 199 25.3181 FLG 0 genome.wustl.edu 37 1 152286132 152286132 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152286132 152286132 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.1230 p.S410 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 599 0 0 304 378 55.4252 FLG 0 genome.wustl.edu 37 1 152286754 152286754 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152286754 152286754 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.608 p.R203I 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 77 0 0 51 68 57.1429 CRNN 0 genome.wustl.edu 37 1 152382288 152382288 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152382288 152382288 G A SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.1270 p.R424C 0.000 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 97 0 0 92 26 22.0339 KPRP 0 genome.wustl.edu 37 1 152732460 152732460 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152732460 152732460 C T SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.396 p.F132 0.032 NULL NULL - no_errors KPRP HGNC ENSG00000203786 379 0 0 174 216 55.3846 LCE1B 0 genome.wustl.edu 37 1 152784956 152784956 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152784956 152784956 C T SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known missense c.34 p.P12S 1.000 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 171 0 0 99 106 51.7073 SMCP 0 genome.wustl.edu 37 1 152856943 152856943 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152856943 152856943 C T SNP SMCP ENST00000368765 human ensembl 74_37 +1 known silent c.45 p.G15 0.000 NULL NULL - no_errors SMCP HGNC ENSG00000163206 146 0 0 113 35 23.6486 SPRR3 0 genome.wustl.edu 37 1 152975767 152975767 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 152975767 152975767 A G SNP SPRR3 ENST00000295367 human ensembl 74_37 +1 known missense c.271 p.T91A 0.000 pfam_Cornifin pfam_Cornifin - no_errors SPRR3 HGNC ENSG00000163209 107 0 0 98 19 16.2393 SPRR2A 0 genome.wustl.edu 37 1 153029005 153029005 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153029005 153029005 C T SNP SPRR2A ENST00000392653 human ensembl 74_37 -1 known silent c.207 p.P69 1.000 NULL NULL - no_errors SPRR2A HGNC ENSG00000241794 219 0 0 150 48 24.2424 PGLYRP4 0 genome.wustl.edu 37 1 153314133 153314133 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153314133 153314133 C T SNP PGLYRP4 ENST00000359650 human ensembl 74_37 -1 known missense c.595 p.A199T 0.629 pfam_Amidase_domain,superfamily_Amidase_domain,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 175 0 0 125 44 26.0355 S100A8 0 genome.wustl.edu 37 1 153363166 153363166 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153363166 153363166 T G SNP S100A8 ENST00000477801 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A8 HGNC ENSG00000143546 32 0 0 19 10 34.4828 S100A7A 0 genome.wustl.edu 37 1 153391694 153391694 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153391694 153391694 T G SNP S100A7A ENST00000329256 human ensembl 74_37 +1 known missense c.215 p.F72C 0.101 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A7A HGNC ENSG00000184330 97 0 0 39 61 61 S100A7 0 genome.wustl.edu 37 1 153430395 153430395 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153430395 153430395 T C SNP S100A7 ENST00000368722 human ensembl 74_37 -1 known missense c.193 p.N65D 0.007 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A7 HGNC ENSG00000143556 93 0 0 90 26 22.4138 ILF2 0 genome.wustl.edu 37 1 153638198 153638198 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153638198 153638198 G A SNP ILF2 ENST00000361891 human ensembl 74_37 -1 known missense c.401 p.A134V 1.000 pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 160 0 0 137 42 23.4637 NPR1 0 genome.wustl.edu 37 1 153662791 153662791 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153662791 153662791 G T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.2964 p.K988N 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 10 0 0 5 4 44.4444 INTS3 0 genome.wustl.edu 37 1 153719761 153719761 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153719761 153719761 T C SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.439 p.W147R 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 75 0 0 55 18 24.6575 DENND4B 0 genome.wustl.edu 37 1 153913426 153913426 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153913426 153913426 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1280 p.S427L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 20 0 0 9 9 50 RPS27 0 genome.wustl.edu 37 1 153963678 153963678 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 153963678 153963678 T G SNP RPS27 ENST00000368567 human ensembl 74_37 +1 known missense c.94 p.F32V 1.000 pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd - no_errors RPS27 HGNC ENSG00000177954 21 0 0 36 6 14.2857 NUP210L 0 genome.wustl.edu 37 1 154026819 154026819 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154026819 154026819 A G SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.3368 p.V1123A 1.000 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 104 0 0 128 9 6.56934 NUP210L 0 genome.wustl.edu 37 1 154112362 154112362 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154112362 154112362 C A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.633 p.E211D 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 424 1 0.235294 246 277 52.9637 TPM3 0 genome.wustl.edu 37 1 154141803 154141803 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154141803 154141803 C T SNP TPM3 ENST00000368530 human ensembl 74_37 -1 known missense c.832 p.A278T 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 101 0 0 43 62 59.0476 TPM3 0 genome.wustl.edu 37 1 154163762 154163762 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154163762 154163762 T G SNP TPM3 ENST00000368530 human ensembl 74_37 -1 known missense c.143 p.Q48P 1.000 NULL pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 159 0 0 122 29 19.2053 ATP8B2 0 genome.wustl.edu 37 1 154315667 154315667 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154315667 154315667 G A SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.1631 p.R544H 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 117 0 0 80 49 37.9845 KAZN 0 genome.wustl.edu 37 1 15441017 15441017 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 15441017 15441017 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known silent c.2214 p.F738 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 29 0 0 16 5 23.8095 TDRD10 0 genome.wustl.edu 37 1 154493951 154493951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154493951 154493951 C T SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.365 p.P122L 0.001 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 256 1 0.389105 237 55 18.8356 TDRD10 0 genome.wustl.edu 37 1 154517377 154517377 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154517377 154517377 G A SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.904 p.D302N 0.000 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 136 0 0 85 17 16.6667 CHRNB2 0 genome.wustl.edu 37 1 154543740 154543740 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154543740 154543740 G A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.441 p.P147 0.405 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 172 0 0 77 23 23 KCNN3 0 genome.wustl.edu 37 1 154685971 154685971 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154685971 154685971 T C SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.1868 p.D623G 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 135 0 0 74 23 23.7113 KCNN3 0 genome.wustl.edu 37 1 154744733 154744733 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154744733 154744733 C T SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.1166 p.R389H 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 67 0 0 31 34 52.3077 FLAD1 0 genome.wustl.edu 37 1 154960706 154960706 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 154960706 154960706 C A SNP FLAD1 ENST00000405236 human ensembl 74_37 +1 known missense c.201 p.F67L 0.997 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 154 0 0 126 39 23.6364 FAM189B 0 genome.wustl.edu 37 1 155223732 155223732 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 155223732 155223732 A G SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.431 p.L144P 0.880 pfam_CD20-like pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 102 0 0 77 26 25.2427 FDPS 0 genome.wustl.edu 37 1 155288068 155288068 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 155288068 155288068 G A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.670 p.E224K 0.999 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 111 0 0 101 22 17.8862 ASH1L 0 genome.wustl.edu 37 1 155319149 155319149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 155319149 155319149 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.7538 p.A2513V 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 115 0 0 61 61 50 TMEM51 0 genome.wustl.edu 37 1 15541819 15541819 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 15541819 15541819 T G SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known missense c.236 p.L79R 0.997 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 128 0 0 97 37 27.6119 ASH1L 0 genome.wustl.edu 37 1 155448772 155448772 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 155448772 155448772 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3889 p.R1297C 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 181 0 0 106 131 55.2743 MSTO1 0 genome.wustl.edu 37 1 155581322 155581322 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 155581322 155581322 T G SNP MSTO1 ENST00000465137 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MSTO1 HGNC ENSG00000125459 52 0 0 43 6 12.2449 MEX3A 0 genome.wustl.edu 37 1 156047038 156047038 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156047038 156047038 T C SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.890 p.E297G 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 120 0 0 73 21 22.3404 PAQR6 0 genome.wustl.edu 37 1 156214957 156214957 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156214957 156214957 G A SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known silent c.267 p.F89 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 134 0 0 98 22 18.3333 CCT3 0 genome.wustl.edu 37 1 156279094 156279094 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156279094 156279094 T C SNP CCT3 ENST00000295688 human ensembl 74_37 -1 known missense c.1534 p.T512A 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 131 0 0 51 63 55.2632 RHBG 0 genome.wustl.edu 37 1 156339125 156339125 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156339125 156339125 C A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.85 p.L29I 1.000 pfam_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 66 0 0 49 15 23.4375 C1orf61 0 genome.wustl.edu 37 1 156376906 156376906 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156376906 156376906 G T SNP C1orf61 ENST00000368243 human ensembl 74_37 -1 known missense c.389 p.S130Y 0.025 NULL NULL - no_errors C1orf61 HGNC ENSG00000125462 70 0 0 57 19 25 IQGAP3 0 genome.wustl.edu 37 1 156520055 156520055 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156520055 156520055 C A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.1823 p.R608I 0.817 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 46 0 0 23 25 52.0833 IQGAP3 0 genome.wustl.edu 37 1 156533432 156533432 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156533432 156533432 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.532 p.E178K 1.000 superfamily_CH-domain 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 49 0 0 33 8 19.5122 BCAN 0 genome.wustl.edu 37 1 156616856 156616856 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156616856 156616856 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.355 p.D119N 0.998 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 49 0 0 23 16 41.0256 BCAN 0 genome.wustl.edu 37 1 156616943 156616943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156616943 156616943 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.442 p.D148N 0.991 smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 58 0 0 32 13 28.8889 BCAN 0 genome.wustl.edu 37 1 156627954 156627954 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156627954 156627954 C T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known silent c.2328 p.S776 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 101 0 0 75 16 17.5824 NES 0 genome.wustl.edu 37 1 156641598 156641598 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156641598 156641598 C A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.2382 p.E794D 0.940 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 97 0 0 44 47 51.6484 RRNAD1 0 genome.wustl.edu 37 1 156705540 156705540 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156705540 156705540 G A SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.1145 p.R382Q 1.000 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 122 0 0 89 31 25.8333 LRRC71 0 genome.wustl.edu 37 1 156902367 156902367 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 156902367 156902367 G A SNP LRRC71 ENST00000490146 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC71 HGNC ENSG00000160838 186 0 0 56 82 59.4203 FCRL5 0 genome.wustl.edu 37 1 157514687 157514687 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157514687 157514687 G A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.493 p.R165C 0.001 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 157 0 0 101 128 55.8952 FCRL4 0 genome.wustl.edu 37 1 157548340 157548340 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157548340 157548340 G T SNP FCRL4 ENST00000448509 human ensembl 74_37 -1 known rna NULL NULL 0.920 - - - no_errors FCRL4 HGNC ENSG00000163518 75 0 0 64 31 32.6316 FCRL3 0 genome.wustl.edu 37 1 157648720 157648720 + RNA SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157648720 157648720 A T SNP FCRL3 ENST00000468507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 84 0 0 42 41 49.3976 FCRL3 0 genome.wustl.edu 37 1 157666827 157666827 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157666827 157666827 A G SNP FCRL3 ENST00000473231 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 22 0 0 15 15 50 FCRL2 0 genome.wustl.edu 37 1 157719465 157719465 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157719465 157719465 C A SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known nonsense c.1282 p.E428* 0.018 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 65 0 0 59 23 28.0488 FCRL2 0 genome.wustl.edu 37 1 157740375 157740375 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157740375 157740375 T G SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.134 p.K45T 0.000 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 56 0 0 81 7 7.95455 FCRL1 0 genome.wustl.edu 37 1 157767670 157767670 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157767670 157767670 C T SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.1174 p.E392K 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 89 0 0 53 59 52.6786 FCRL1 0 genome.wustl.edu 37 1 157773935 157773935 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 157773935 157773935 C T SNP FCRL1 ENST00000489998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL1 HGNC ENSG00000163534 89 0 0 62 16 20.5128 CELA2B 0 genome.wustl.edu 37 1 15809762 15809762 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 15809762 15809762 C T SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known silent c.360 p.N120 0.773 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 169 0 0 113 23 16.9118 CD1D 0 genome.wustl.edu 37 1 158151317 158151317 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158151317 158151317 A G SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.134 p.D45G 0.001 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 343 1 0.290698 245 70 22.2222 CD1B 0 genome.wustl.edu 37 1 158299693 158299693 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158299693 158299693 G A SNP CD1B ENST00000368168 human ensembl 74_37 -1 known nonsense c.556 p.R186* 0.000 superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 204 0 0 114 139 54.9407 OR6Y1 0 genome.wustl.edu 37 1 158517116 158517116 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158517116 158517116 T G SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known silent c.780 p.T260 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 164 0 0 125 39 23.7805 SPTA1 0 genome.wustl.edu 37 1 158592868 158592868 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158592868 158592868 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6025 p.R2009C 0.997 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 499 0 0 492 109 18.1364 SPTA1 0 genome.wustl.edu 37 1 158606495 158606495 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158606495 158606495 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5246 p.Q1749P 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 207 0 0 117 123 51.25 SPTA1 0 genome.wustl.edu 37 1 158621249 158621249 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158621249 158621249 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3385 p.T1129A 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 182 0 0 146 49 25.1282 SPTA1 0 genome.wustl.edu 37 1 158623098 158623098 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158623098 158623098 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3154 p.N1052H 0.998 superfamily_SH3_domain,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 194 0 0 98 85 46.4481 SPTA1 0 genome.wustl.edu 37 1 158623119 158623119 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158623119 158623119 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3133 p.R1045W 0.004 superfamily_SH3_domain,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 168 0 0 108 44 28.9474 SPTA1 0 genome.wustl.edu 37 1 158639264 158639264 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158639264 158639264 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1767 p.E589D 0.991 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 325 1 0.306748 305 68 18.2306 OR6K2 0 genome.wustl.edu 37 1 158669933 158669933 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158669933 158669933 C T SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known silent c.510 p.S170 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 114 0 0 71 57 44.5312 OR6K3 0 genome.wustl.edu 37 1 158687804 158687804 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158687804 158687804 G T SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known silent c.150 p.I50 0.855 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 144 0 0 163 41 20.098 OR6K6 0 genome.wustl.edu 37 1 158725631 158725631 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158725631 158725631 G A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.1026 p.G342 0.044 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 94 0 0 77 16 17.2043 OR6N2 0 genome.wustl.edu 37 1 158746725 158746725 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158746725 158746725 C A SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known missense c.701 p.R234I 0.811 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 72 0 0 63 25 28.4091 OR6N2 0 genome.wustl.edu 37 1 158746739 158746739 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158746739 158746739 T G SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known missense c.687 p.K229N 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 74 0 0 83 14 14.433 DNAJC16 0 genome.wustl.edu 37 1 15874828 15874828 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 15874828 15874828 A G SNP DNAJC16 ENST00000375847 human ensembl 74_37 +1 known missense c.928 p.T310A 0.988 NULL pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC16 HGNC ENSG00000116138 78 0 0 53 16 23.1884 MNDA 0 genome.wustl.edu 37 1 158815580 158815580 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158815580 158815580 G T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.774 p.E258D 0.014 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 62 0 0 58 47 44.7619 MNDA 0 genome.wustl.edu 37 1 158817600 158817600 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 158817600 158817600 A G SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.1070 p.H357R 0.002 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 168 1 0.591716 123 35 22.1519 AIM2 0 genome.wustl.edu 37 1 159043205 159043205 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159043205 159043205 G T SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known missense c.85 p.L29I 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 142 0 0 84 79 48.4663 CADM3 0 genome.wustl.edu 37 1 159162412 159162412 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159162412 159162412 G A SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.376 p.E126K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 143 0 0 96 22 18.6441 DARC 0 genome.wustl.edu 37 1 159176026 159176026 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159176026 159176026 T G SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.803 p.V268G 0.925 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 248 0 0 164 51 23.7209 DDI2 0 genome.wustl.edu 37 1 15964914 15964914 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 15964914 15964914 G A SNP DDI2 ENST00000480945 human ensembl 74_37 +1 known missense c.745 p.A249T 1.000 pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin_dom,superfamily_Peptidase_aspartic_dom,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 367 0 0 320 99 23.6277 CRP 0 genome.wustl.edu 37 1 159683518 159683518 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159683518 159683518 C A SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.472 p.D158Y 1.000 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 CRP HGNC ENSG00000132693 520 0 0 407 155 27.5801 FCRL6 0 genome.wustl.edu 37 1 159778115 159778115 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159778115 159778115 C T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.200 p.T67I 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 56 0 0 36 39 52 FCRL6 0 genome.wustl.edu 37 1 159778757 159778757 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159778757 159778757 T G SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.326 p.F109C 0.985 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 87 0 0 53 28 34.5679 CCDC19 0 genome.wustl.edu 37 1 159846352 159846352 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159846352 159846352 A C SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1346 p.I449S 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 57 0 0 36 15 29.4118 CCDC19 0 genome.wustl.edu 37 1 159846428 159846428 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159846428 159846428 G A SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1270 p.R424W 0.987 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 54 0 0 43 20 31.746 SLAMF9 0 genome.wustl.edu 37 1 159922090 159922090 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 159922090 159922090 A G SNP SLAMF9 ENST00000368093 human ensembl 74_37 -1 known missense c.626 p.V209A 0.001 pfscan_Ig-like_dom pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF9 HGNC ENSG00000162723 146 0 0 122 31 20.2614 ATP1A2 0 genome.wustl.edu 37 1 160097591 160097591 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160097591 160097591 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.998 p.G333E 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 155 0 0 50 87 63.5036 ATP1A2 0 genome.wustl.edu 37 1 160099926 160099926 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160099926 160099926 G T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1496 p.S499I 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 157 0 0 121 27 18.2432 ATP1A4 0 genome.wustl.edu 37 1 160125849 160125849 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160125849 160125849 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.426 p.I142 0.023 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 82 0 0 71 24 25.2632 CASQ1 0 genome.wustl.edu 37 1 160160780 160160780 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160160780 160160780 C T SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.239 p.A80V 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 64 0 0 51 23 31.0811 PEX19 0 genome.wustl.edu 37 1 160252819 160252819 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160252819 160252819 G A SNP PEX19 ENST00000368072 human ensembl 74_37 -1 known silent c.261 p.F87 0.550 pfam_Pex19 pfam_Pex19 - no_errors PEX19 HGNC ENSG00000162735 113 0 0 71 23 24.4681 COPA 0 genome.wustl.edu 37 1 160268902 160268902 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160268902 160268902 T G SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1847 p.K616T 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 168 0 0 165 52 23.9631 CD84 0 genome.wustl.edu 37 1 160523839 160523839 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160523839 160523839 C A SNP CD84 ENST00000534968 human ensembl 74_37 -1 known missense c.144 p.K48N 0.022 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 123 0 0 83 31 27.193 SLAMF1 0 genome.wustl.edu 37 1 160604606 160604606 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160604606 160604606 A G SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.497 p.V166A 0.002 pfscan_Ig-like_dom pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 188 0 0 105 22 17.3228 SLAMF1 0 genome.wustl.edu 37 1 160604614 160604614 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160604614 160604614 G A SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known silent c.489 p.G163 0.943 pfscan_Ig-like_dom pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 182 0 0 82 47 36.4341 SLAMF7 0 genome.wustl.edu 37 1 160720183 160720183 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160720183 160720183 C A SNP SLAMF7 ENST00000368043 human ensembl 74_37 +1 known missense c.739 p.L247I 0.000 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF7 HGNC ENSG00000026751 228 0 0 240 55 18.6441 LY9 0 genome.wustl.edu 37 1 160793289 160793289 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160793289 160793289 C A SNP LY9 ENST00000263285 human ensembl 74_37 +1 known silent c.1533 p.L511 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 64 0 0 51 21 29.1667 CD244 0 genome.wustl.edu 37 1 160811101 160811101 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160811101 160811101 T C SNP CD244 ENST00000368033 human ensembl 74_37 -1 known missense c.569 p.D190G 0.001 pfscan_Ig-like_dom pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 221 0 0 105 99 48.5294 F11R 0 genome.wustl.edu 37 1 160968840 160968840 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 160968840 160968840 C T SNP F11R ENST00000368026 human ensembl 74_37 -1 known missense c.857 p.R286Q 0.320 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors F11R HGNC ENSG00000158769 83 0 0 36 46 56.0976 ARHGAP30 0 genome.wustl.edu 37 1 161017765 161017765 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161017765 161017765 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.3046 p.R1016W 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 120 0 0 84 34 28.8136 ARHGAP30 0 genome.wustl.edu 37 1 161022287 161022287 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161022287 161022287 A C SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.883 p.L295V 0.996 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 322 0 0 322 20 5.84795 ARHGAP30 0 genome.wustl.edu 37 1 161029440 161029440 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161029440 161029440 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.164 p.R55H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 85 0 0 41 41 50 PVRL4 0 genome.wustl.edu 37 1 161044462 161044462 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161044462 161044462 G A SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known silent c.939 p.Y313 0.989 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 73 0 0 70 16 18.6047 APOA2 0 genome.wustl.edu 37 1 161193167 161193167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161193167 161193167 G A SNP APOA2 ENST00000367990 human ensembl 74_37 -1 known silent c.25 p.L9 0.955 NULL pfam_ApoA-II - no_errors APOA2 HGNC ENSG00000158874 59 0 0 42 9 17.6471 FCGR3A 0 genome.wustl.edu 37 1 161512836 161512836 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161512836 161512836 T G SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.839 p.K280T 0.001 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 179 0 0 132 56 29.7872 FCGR3A 0 genome.wustl.edu 37 1 161518349 161518349 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 161518349 161518349 A C SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.289 p.F97V 0.291 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 506 0 0 465 26 5.29532 NOS1AP 0 genome.wustl.edu 37 1 162270424 162270424 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 162270424 162270424 T G SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known missense c.272 p.L91R 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 154 0 0 125 36 22.3602 SPEN 0 genome.wustl.edu 37 1 16237756 16237756 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16237756 16237756 C A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.1203 p.F401L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 74 0 0 71 27 27.551 SPEN 0 genome.wustl.edu 37 1 16254624 16254624 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16254624 16254624 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.1889 p.R630H 0.999 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 146 0 0 62 70 53.0303 UAP1 0 genome.wustl.edu 37 1 162551117 162551117 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 162551117 162551117 T C SNP UAP1 ENST00000271469 human ensembl 74_37 +1 known silent c.702 p.N234 0.342 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 273 0 0 239 64 21.1221 SPEN 0 genome.wustl.edu 37 1 16255513 16255513 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16255513 16255513 A C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.2778 p.K926N 0.161 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 337 0 0 277 109 28.2383 UAP1 0 genome.wustl.edu 37 1 162560241 162560241 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 162560241 162560241 T C SNP UAP1 ENST00000271469 human ensembl 74_37 +1 known missense c.1298 p.V433A 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 123 0 0 123 8 6.10687 SPEN 0 genome.wustl.edu 37 1 16260420 16260420 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16260420 16260420 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7685 p.V2562A 0.999 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 297 0 0 241 111 31.5341 SPEN 0 genome.wustl.edu 37 1 16265254 16265254 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16265254 16265254 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.10746 p.G3582 1.000 pfam_SPOC_C,superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 77 0 0 48 15 23.8095 RGS4 0 genome.wustl.edu 37 1 163039216 163039216 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 163039216 163039216 G A SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.233 p.S78N 0.993 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 33 0 0 19 10 34.4828 CLCNKA 0 genome.wustl.edu 37 1 16359671 16359671 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16359671 16359671 A C SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known missense c.1936 p.N646H 0.989 pfam_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 249 0 0 160 53 24.8826 CLCNKA 0 genome.wustl.edu 37 1 16360278 16360278 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16360278 16360278 A G SNP CLCNKA ENST00000464764 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLCNKA HGNC ENSG00000186510 9 0 0 5 6 54.5455 PBX1 0 genome.wustl.edu 37 1 164815832 164815832 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 164815832 164815832 T G SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known silent c.1212 p.G404 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 145 0 0 118 19 13.8686 LMX1A 0 genome.wustl.edu 37 1 165182951 165182951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 165182951 165182951 C T SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known missense c.596 p.R199K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 262 0 0 117 109 48.2301 ARHGEF19 0 genome.wustl.edu 37 1 16528923 16528923 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16528923 16528923 C T SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.2054 p.R685Q 1.000 superfamily_SH3_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 46 0 0 21 5 19.2308 RSG1 0 genome.wustl.edu 37 1 16559403 16559403 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16559403 16559403 G A SNP RSG1 ENST00000375599 human ensembl 74_37 -1 known silent c.375 p.F125 0.999 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 157 0 0 85 27 24.1071 ALDH9A1 0 genome.wustl.edu 37 1 165638645 165638645 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 165638645 165638645 G T SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known missense c.973 p.L325I 0.962 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 74 0 0 76 15 16.4835 ALDH9A1 0 genome.wustl.edu 37 1 165664630 165664630 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 165664630 165664630 T G SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known silent c.186 p.R62 0.968 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 112 0 0 102 32 23.8806 FBXO42 0 genome.wustl.edu 37 1 16632304 16632304 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16632304 16632304 A G SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.361 p.S121P 1.000 pfam_Kelch_2 pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 124 0 0 59 26 30.5882 MAEL 0 genome.wustl.edu 37 1 166973498 166973498 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 166973498 166973498 T G SNP MAEL ENST00000367872 human ensembl 74_37 +1 known missense c.605 p.F202C 0.977 superfamily_CH-domain pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 100 0 0 61 83 57.6389 MAEL 0 genome.wustl.edu 37 1 166974750 166974750 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 166974750 166974750 T G SNP MAEL ENST00000487826 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MAEL HGNC ENSG00000143194 21 0 0 16 4 20 DUSP27 0 genome.wustl.edu 37 1 167097037 167097037 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 167097037 167097037 A G SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2669 p.D890G 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 95 0 0 52 24 31.5789 CD247 0 genome.wustl.edu 37 1 167408594 167408594 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 167408594 167408594 T C SNP CD247 ENST00000362089 human ensembl 74_37 -1 known missense c.206 p.N69S 0.133 pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 121 0 0 55 45 45 DCAF6 0 genome.wustl.edu 37 1 167921046 167921046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 167921046 167921046 G A SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.106 p.E36K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 36 0 0 62 15 19.4805 DCAF6 0 genome.wustl.edu 37 1 168037606 168037606 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 168037606 168037606 G A SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.2696 p.R899Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 46 0 0 52 16 23.5294 SFT2D2 0 genome.wustl.edu 37 1 168208388 168208388 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 168208388 168208388 C T SNP SFT2D2 ENST00000271375 human ensembl 74_37 +1 known missense c.433 p.P145S 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors SFT2D2 HGNC ENSG00000213064 118 0 0 93 80 46.2428 ATP1B1 0 genome.wustl.edu 37 1 169080737 169080737 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169080737 169080737 G A SNP ATP1B1 ENST00000367815 human ensembl 74_37 +1 known splice_site c.226+1 e2+1 1.000 - - - no_errors ATP1B1 HGNC ENSG00000143153 116 0 0 72 19 20.8791 NME7 0 genome.wustl.edu 37 1 169101868 169101868 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169101868 169101868 A G SNP NME7 ENST00000493481 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors NME7 HGNC ENSG00000143156 12 0 0 2 12 85.7143 NME7 0 genome.wustl.edu 37 1 169292429 169292429 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169292429 169292429 G T SNP NME7 ENST00000367811 human ensembl 74_37 -1 known silent c.204 p.V68 0.972 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 143 0 0 158 41 20.603 CROCCP2 0 genome.wustl.edu 37 1 16946282 16946282 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 16946282 16946282 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 11 0 0 10 4 28.5714 F5 0 genome.wustl.edu 37 1 169509977 169509977 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169509977 169509977 G A SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.4351 p.L1451F 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 114 0 0 69 66 48.8889 F5 0 genome.wustl.edu 37 1 169521904 169521904 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169521904 169521904 T C SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.1187 p.Y396C 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 129 1 0.769231 152 29 16.0221 C1orf112 0 genome.wustl.edu 37 1 169771777 169771777 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169771777 169771777 G A SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known missense c.82 p.D28N 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 61 0 0 53 19 26.3889 C1orf112 0 genome.wustl.edu 37 1 169822194 169822194 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169822194 169822194 T G SNP C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.430 - - - no_errors C1orf112 HGNC ENSG00000000460 34 0 0 21 24 53.3333 SCYL3 0 genome.wustl.edu 37 1 169823858 169823858 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169823858 169823858 C T SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known silent c.1722 p.E574 0.972 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 223 0 0 198 52 20.8 SCYL3 0 genome.wustl.edu 37 1 169828220 169828220 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169828220 169828220 G A SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known missense c.1274 p.A425V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 135 0 0 115 31 21.2329 SCYL3 0 genome.wustl.edu 37 1 169836042 169836042 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 169836042 169836042 G T SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known missense c.810 p.F270L 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 32 0 0 38 15 28.3019 GORAB 0 genome.wustl.edu 37 1 170511686 170511686 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 170511686 170511686 G T SNP GORAB ENST00000367763 human ensembl 74_37 +1 known missense c.549 p.E183D 1.000 pfam_Transcript_act pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 151 0 0 130 47 26.5537 MROH9 0 genome.wustl.edu 37 1 170952658 170952658 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 170952658 170952658 G A SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.712 p.E238K 0.005 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 42 0 0 54 8 12.9032 MROH9 0 genome.wustl.edu 37 1 170967331 170967331 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 170967331 170967331 G T SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1512 p.E504D 0.982 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 110 0 0 106 36 25.3521 MROH9 0 genome.wustl.edu 37 1 170967484 170967484 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 170967484 170967484 C T SNP MROH9 ENST00000367758 human ensembl 74_37 +1 known silent c.1665 p.F555 0.000 NULL superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 94 0 0 58 59 50.4274 FMO2 0 genome.wustl.edu 37 1 171173122 171173122 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 171173122 171173122 G A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.746 p.R249Q 0.239 pfam_Flavin_mOase-like,prints_Flavin_mOase_2,prints_Flavin_mOase_1 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 88 0 0 65 20 23.5294 FMO2 0 genome.wustl.edu 37 1 171176833 171176833 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 171176833 171176833 T G SNP FMO2 ENST00000488431 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FMO2 HGNC ENSG00000094963 77 0 0 88 35 28.4553 FMO2 0 genome.wustl.edu 37 1 171176837 171176837 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 171176837 171176837 A G SNP FMO2 ENST00000488431 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FMO2 HGNC ENSG00000094963 76 0 0 71 55 43.6508 FMO4 0 genome.wustl.edu 37 1 171300852 171300852 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 171300852 171300852 C T SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known silent c.558 p.R186 0.023 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 223 0 0 197 47 19.2623 PRRC2C 0 genome.wustl.edu 37 1 171492526 171492526 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 171492526 171492526 T G SNP PRRC2C ENST00000470689 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors PRRC2C HGNC ENSG00000117523 46 0 0 45 17 27.4194 PIGC 0 genome.wustl.edu 37 1 172411136 172411136 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 172411136 172411136 A C SNP PIGC ENST00000258324 human ensembl 74_37 -1 known missense c.627 p.I209M 0.996 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 136 0 0 115 28 19.5804 SUCO 0 genome.wustl.edu 37 1 172539808 172539808 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 172539808 172539808 A G SNP SUCO ENST00000608151 human ensembl 74_37 +1 known silent c.1464 p.T488 1.000 pfam_Sad1_UNC_C pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 41 0 0 51 10 16.3934 FASLG 0 genome.wustl.edu 37 1 172634779 172634779 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 172634779 172634779 T C SNP FASLG ENST00000367721 human ensembl 74_37 +1 known missense c.469 p.S157P 0.582 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 99 0 0 84 22 20.7547 CROCC 0 genome.wustl.edu 37 1 17265432 17265432 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 17265432 17265432 T C SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.1403 p.V468A 0.887 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 78 0 0 26 12 31.5789 TNFSF4 0 genome.wustl.edu 37 1 173174606 173174606 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173174606 173174606 G A SNP TNFSF4 ENST00000488053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TNFSF4 HGNC ENSG00000117586 28 0 0 40 11 21.5686 TNFSF4 0 genome.wustl.edu 37 1 173176216 173176216 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173176216 173176216 G A SNP TNFSF4 ENST00000281834 human ensembl 74_37 -1 known silent c.100 p.L34 0.017 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom - no_errors TNFSF4 HGNC ENSG00000117586 81 0 0 61 20 24.6914 SLC9C2 0 genome.wustl.edu 37 1 173542456 173542456 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173542456 173542456 C A SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.911 p.R304I 0.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 27 0 0 45 14 23.7288 ANKRD45 0 genome.wustl.edu 37 1 173616051 173616051 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173616051 173616051 C A SNP ANKRD45 ENST00000333279 human ensembl 74_37 -1 known nonsense c.430 p.E144* 0.914 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD45 HGNC ENSG00000183831 154 0 0 129 28 17.8344 KLHL20 0 genome.wustl.edu 37 1 173754461 173754461 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173754461 173754461 G A SNP KLHL20 ENST00000488983 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors KLHL20 HGNC ENSG00000076321 14 0 0 20 6 23.0769 DARS2 0 genome.wustl.edu 37 1 173795873 173795873 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173795873 173795873 C T SNP DARS2 ENST00000361951 human ensembl 74_37 +1 known missense c.176 p.S59L 0.994 superfamily_NA-bd_OB-fold,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 106 0 0 82 21 20.3883 GAS5 0 genome.wustl.edu 37 1 173833533 173833533 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173833533 173833533 T G SNP GAS5 ENST00000365524 human ensembl 74_37 -1 known rna NULL NULL 0.626 - - - no_errors GAS5 HGNC ENSG00000234741 44 0 0 54 23 29.8701 RC3H1 0 genome.wustl.edu 37 1 173934066 173934066 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 173934066 173934066 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.1527 p.P509 0.806 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 148 0 0 123 52 29.7143 TNR 0 genome.wustl.edu 37 1 175325525 175325525 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 175325525 175325525 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3048 p.H1016 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 162 0 0 123 32 20.6452 TNR 0 genome.wustl.edu 37 1 175372721 175372721 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 175372721 175372721 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.531 p.G177 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 177 1 0.561798 140 33 19.0751 ASTN1 0 genome.wustl.edu 37 1 176857271 176857271 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 176857271 176857271 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known nonsense c.3034 p.R1012* 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 95 0 0 43 52 54.7368 PADI4 0 genome.wustl.edu 37 1 17690157 17690157 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 17690157 17690157 C A SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known missense c.1899 p.F633L 0.125 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 75 0 0 21 20 48.7805 ASTN1 0 genome.wustl.edu 37 1 176903370 176903370 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 176903370 176903370 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.2613 p.G871 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 76 0 0 52 42 44.6809 ASTN1 0 genome.wustl.edu 37 1 176983952 176983952 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 176983952 176983952 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1522 p.R508W 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 544 0 0 254 317 55.5166 PADI6 0 genome.wustl.edu 37 1 17707627 17707627 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 17707627 17707627 A G SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors PADI6 HGNC ENSG00000256049 16 0 0 5 3 37.5 PADI6 0 genome.wustl.edu 37 1 17721561 17721561 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 17721561 17721561 C A SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PADI6 HGNC ENSG00000256049 142 0 0 67 28 29.4737 BRINP2 0 genome.wustl.edu 37 1 177245497 177245497 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 177245497 177245497 C T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.939 p.I313 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 92 0 0 28 33 54.0984 RCC2 0 genome.wustl.edu 37 1 17735647 17735647 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 17735647 17735647 T G SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.1508 p.E503A 0.996 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 153 0 0 73 38 34.2342 RASAL2 0 genome.wustl.edu 37 1 178423770 178423770 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 178423770 178423770 C T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.2198 p.S733F 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 79 0 0 92 22 19.2982 AXDND1 0 genome.wustl.edu 37 1 179399642 179399642 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 179399642 179399642 T C SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1388 p.V463A 0.273 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 95 0 0 52 49 48.5149 AXDND1 0 genome.wustl.edu 37 1 179504086 179504086 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 179504086 179504086 C T SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.3020 p.S1007F 0.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 45 0 0 33 34 50.7463 NPHS2 0 genome.wustl.edu 37 1 179528894 179528894 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 179528894 179528894 G T SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known missense c.454 p.L152I 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 8 0 0 8 7 46.6667 TDRD5 0 genome.wustl.edu 37 1 179564917 179564917 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 179564917 179564917 G A SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known silent c.795 p.E265 0.768 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 109 0 0 52 51 49.5146 KIAA1614 0 genome.wustl.edu 37 1 180904388 180904388 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 180904388 180904388 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.1343 p.S448L 0.966 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 25 0 0 10 11 52.381 STX6 0 genome.wustl.edu 37 1 180962512 180962512 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 180962512 180962512 C A SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.350 p.R117I 0.995 NULL pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 73 0 0 96 31 24.4094 ACTL8 0 genome.wustl.edu 37 1 18149556 18149556 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 18149556 18149556 G A SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.53 p.G18D 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 88 0 0 34 26 43.3333 ACTL8 0 genome.wustl.edu 37 1 18152471 18152471 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 18152471 18152471 G T SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.558 p.K186N 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 67 0 0 31 8 20.5128 CACNA1E 0 genome.wustl.edu 37 1 181684518 181684518 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 181684518 181684518 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.1216 p.A406T 0.999 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 21 0 0 11 3 21.4286 CACNA1E 0 genome.wustl.edu 37 1 181740471 181740471 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 181740471 181740471 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4924 p.R1642W 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 13 0 0 17 2 10.5263 GLUL 0 genome.wustl.edu 37 1 182358056 182358056 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 182358056 182358056 A C SNP GLUL ENST00000475808 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC ENSG00000135821 8 0 0 6 5 45.4545 RNASEL 0 genome.wustl.edu 37 1 182555419 182555419 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 182555419 182555419 C T SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known missense c.523 p.A175T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 102 0 0 86 19 18.0952 NPL 0 genome.wustl.edu 37 1 182795051 182795051 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 182795051 182795051 T G SNP NPL ENST00000463899 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NPL HGNC ENSG00000135838 74 0 0 61 20 24.6914 NPL 0 genome.wustl.edu 37 1 182798041 182798041 + Nonstop_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 182798041 182798041 T G SNP NPL ENST00000258317 human ensembl 74_37 +1 known nonstop c.961 p.*321E 0.818 NULL pfam_DapA-like,prints_DapA-like - no_errors NPL HGNC ENSG00000135838 140 0 0 112 48 30 SHCBP1L 0 genome.wustl.edu 37 1 182908317 182908317 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 182908317 182908317 C T SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.1070 p.R357H 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 73 0 0 41 31 43.0556 LAMC1 0 genome.wustl.edu 37 1 183085943 183085943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183085943 183085943 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1469 p.R490Q 0.035 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 123 0 0 71 76 51.7007 LAMC1 0 genome.wustl.edu 37 1 183091010 183091010 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183091010 183091010 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2143 p.L715F 0.995 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 63 0 0 35 41 53.9474 LAMC1 0 genome.wustl.edu 37 1 183111855 183111855 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183111855 183111855 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.4760 p.R1587H 0.937 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 100 0 0 45 53 54.0816 NMNAT2 0 genome.wustl.edu 37 1 183259293 183259293 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183259293 183259293 G A SNP NMNAT2 ENST00000287713 human ensembl 74_37 -1 known silent c.291 p.S97 0.979 pfam_Cyt_trans-like pfam_Cyt_trans-like - no_errors NMNAT2 HGNC ENSG00000157064 14 0 0 5 4 44.4444 NCF2 0 genome.wustl.edu 37 1 183538297 183538297 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183538297 183538297 C T SNP NCF2 ENST00000367535 human ensembl 74_37 -1 known silent c.693 p.P231 0.998 superfamily_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 196 0 0 148 40 21.2766 RGL1 0 genome.wustl.edu 37 1 183816872 183816872 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183816872 183816872 C T SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.416 p.A139V 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-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 124 0 0 123 45 26.7857 RGL1 0 genome.wustl.edu 37 1 183861216 183861216 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183861216 183861216 G A SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1166 p.R389Q 0.998 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 54 0 0 35 18 33.9623 RGL1 0 genome.wustl.edu 37 1 183873985 183873985 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183873985 183873985 A C SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1457 p.E486A 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 83 0 0 89 31 25.8333 COLGALT2 0 genome.wustl.edu 37 1 183909901 183909901 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183909901 183909901 A G SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1418 p.M473T 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 129 0 0 72 69 48.9362 COLGALT2 0 genome.wustl.edu 37 1 183913357 183913357 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 183913357 183913357 T C SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1370 p.D457G 0.952 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 136 0 0 116 31 21.0884 EDEM3 0 genome.wustl.edu 37 1 184677372 184677372 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 184677372 184677372 T G SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known missense c.1952 p.Q651P 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 71 0 0 54 6 10 EDEM3 0 genome.wustl.edu 37 1 184688582 184688582 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 184688582 184688582 A G SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known silent c.1072 p.L358 0.345 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 69 0 0 74 15 16.8539 FAM129A 0 genome.wustl.edu 37 1 184764100 184764100 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 184764100 184764100 A C SNP FAM129A ENST00000487074 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM129A HGNC ENSG00000135842 137 0 0 119 27 18.4932 RNF2 0 genome.wustl.edu 37 1 185056762 185056762 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185056762 185056762 G A SNP RNF2 ENST00000367510 human ensembl 74_37 +1 known missense c.77 p.R26Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF2 HGNC ENSG00000121481 145 0 0 113 25 18.1159 TRMT1L 0 genome.wustl.edu 37 1 185121027 185121027 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185121027 185121027 C A SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.276 p.E92D 1.000 NULL pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 40 0 0 31 40 56.338 SWT1 0 genome.wustl.edu 37 1 185143597 185143597 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185143597 185143597 T C SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known silent c.318 p.N106 0.001 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 24 0 0 26 25 49.0196 SWT1 0 genome.wustl.edu 37 1 185175889 185175889 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185175889 185175889 C T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.1966 p.R656C 0.005 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 29 0 0 24 30 55.5556 SWT1 0 genome.wustl.edu 37 1 185183737 185183737 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185183737 185183737 C A SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.2071 p.L691I 1.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 113 0 0 100 25 20 SWT1 0 genome.wustl.edu 37 1 185191052 185191052 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185191052 185191052 G T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.2193 p.K731N 0.015 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 181 0 0 117 125 51.6529 IVNS1ABP 0 genome.wustl.edu 37 1 185267253 185267253 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185267253 185267253 C T SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1843 p.D615N 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 275 0 0 173 152 46.7692 HMCN1 0 genome.wustl.edu 37 1 185892598 185892598 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185892598 185892598 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.1098 p.S366 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 71 0 0 39 45 53.5714 HMCN1 0 genome.wustl.edu 37 1 185892648 185892648 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185892648 185892648 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1148 p.R383Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 104 0 0 95 21 18.1034 HMCN1 0 genome.wustl.edu 37 1 185950199 185950199 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185950199 185950199 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.2656 p.G886* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 108 0 0 97 35 26.5152 HMCN1 0 genome.wustl.edu 37 1 185953431 185953431 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 185953431 185953431 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2921 p.S974Y 0.983 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 133 0 0 142 42 22.8261 HMCN1 0 genome.wustl.edu 37 1 186063435 186063435 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186063435 186063435 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.10224 p.V3408 0.062 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 84 0 0 93 19 16.9643 HMCN1 0 genome.wustl.edu 37 1 186084048 186084048 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186084048 186084048 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11374 p.D3792Y 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 193 0 0 118 130 52.4194 HMCN1 0 genome.wustl.edu 37 1 186092119 186092119 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186092119 186092119 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.12266 p.V4089A 0.003 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 118 0 0 54 73 57.4803 HMCN1 0 genome.wustl.edu 37 1 186151325 186151325 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186151325 186151325 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.16320 p.D5440 0.002 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 161 0 0 152 51 25.1232 HMCN1 0 genome.wustl.edu 37 1 186157020 186157020 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186157020 186157020 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16420 p.D5474N 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 166 0 0 122 25 17.0068 HMCN1 0 genome.wustl.edu 37 1 186158953 186158953 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186158953 186158953 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.16851 p.T5617 1.000 superfamily_Cadherin-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 102 0 0 98 20 16.9492 PRG4 0 genome.wustl.edu 37 1 186274033 186274033 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186274033 186274033 G T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known nonsense c.577 p.E193* 1.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 72 0 0 54 41 43.1579 PRG4 0 genome.wustl.edu 37 1 186277929 186277929 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186277929 186277929 A C SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.3078 p.K1026N 0.989 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 123 0 0 79 90 53.2544 TPR 0 genome.wustl.edu 37 1 186321231 186321231 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186321231 186321231 T G SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.2346 p.E782D 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 56 0 0 39 49 55.6818 PTGS2 0 genome.wustl.edu 37 1 186643844 186643844 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 186643844 186643844 C A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known missense c.1456 p.A486S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 125 0 0 60 73 54.8872 KLHDC7A 0 genome.wustl.edu 37 1 18809805 18809805 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 18809805 18809805 T G SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.2330 p.V777G 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 175 0 0 60 36 37.5 BRINP3 0 genome.wustl.edu 37 1 190067455 190067455 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 190067455 190067455 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1994 p.N665S 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 167 0 0 98 92 48.4211 PAX7 0 genome.wustl.edu 37 1 19027166 19027166 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 19027166 19027166 G A SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.806 p.R269H 0.642 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 132 0 0 63 34 35.0515 BRINP3 0 genome.wustl.edu 37 1 190423785 190423785 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 190423785 190423785 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.236 p.R79K 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 42 0 0 25 15 37.5 TAS1R2 0 genome.wustl.edu 37 1 19166471 19166471 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 19166471 19166471 C A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.2142 p.K714N 0.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 120 0 0 49 30 37.9747 IFFO2 0 genome.wustl.edu 37 1 19236921 19236921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 19236921 19236921 C T SNP IFFO2 ENST00000455833 human ensembl 74_37 -1 known missense c.1363 p.E455K 1.000 pfam_IF pfam_IF - no_errors IFFO2 HGNC ENSG00000169991 47 0 0 16 9 36 TROVE2 0 genome.wustl.edu 37 1 193051378 193051378 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 193051378 193051378 T C SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known silent c.1266 p.C422 1.000 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 154 0 0 78 100 56.1798 CDC73 0 genome.wustl.edu 37 1 193099338 193099338 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 193099338 193099338 G A SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.272 p.R91Q 1.000 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 48 0 0 50 14 21.875 CDC73 0 genome.wustl.edu 37 1 193111184 193111184 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 193111184 193111184 A C SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.717 p.Q239H 1.000 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 53 0 0 42 43 50.5882 B3GALT2 0 genome.wustl.edu 37 1 193150455 193150455 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 193150455 193150455 G A SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.238 p.R80W 0.986 NULL pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 156 0 0 83 88 51.462 KCNT2 0 genome.wustl.edu 37 1 196303054 196303054 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196303054 196303054 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.1920 p.S640 0.002 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 61 0 0 27 23 46 KCNT2 0 genome.wustl.edu 37 1 196438181 196438181 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196438181 196438181 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.402 p.Q134 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 16 0 0 24 10 29.4118 CFH 0 genome.wustl.edu 37 1 196648758 196648758 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196648758 196648758 T G SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.625 p.S209A 0.242 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 36 0 0 27 29 51.7857 CFH 0 genome.wustl.edu 37 1 196716243 196716243 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196716243 196716243 C A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.3496 p.P1166T 0.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 80 0 0 78 23 22.7723 CFH 0 genome.wustl.edu 37 1 196716413 196716413 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196716413 196716413 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known silent c.3666 p.K1222 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 93 0 0 88 20 18.5185 CFHR4 0 genome.wustl.edu 37 1 196874351 196874351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196874351 196874351 G A SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.367 p.A123T 0.006 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 136 0 0 150 34 18.4783 CFHR4 0 genome.wustl.edu 37 1 196876020 196876020 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196876020 196876020 T C SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.466 p.S156P 0.041 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 76 0 0 64 15 18.9873 CFHR5 0 genome.wustl.edu 37 1 196952070 196952070 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196952070 196952070 T G SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.186 p.D62E 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 82 0 0 107 24 18.3206 CFHR5 0 genome.wustl.edu 37 1 196964986 196964986 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196964986 196964986 A G SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.819 p.I273M 0.004 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 64 0 0 69 13 15.8537 CFHR5 0 genome.wustl.edu 37 1 196977700 196977700 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 196977700 196977700 A G SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.1669 p.T557A 0.097 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 70 0 0 59 15 20.2703 F13B 0 genome.wustl.edu 37 1 197021915 197021915 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197021915 197021915 C A SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1404 p.M468I 1.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 84 0 0 102 23 18.4 ASPM 0 genome.wustl.edu 37 1 197057536 197057536 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197057536 197057536 A G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.10011 p.Y3337 0.015 superfamily_ARM-type_fold 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 93 0 0 84 70 45.4545 ASPM 0 genome.wustl.edu 37 1 197069802 197069802 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197069802 197069802 T G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8579 p.K2860T 0.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS 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 71 0 0 73 22 23.1579 ASPM 0 genome.wustl.edu 37 1 197112287 197112287 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197112287 197112287 A C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.1095 p.I365M 0.998 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 37 0 0 34 33 49.2537 ZBTB41 0 genome.wustl.edu 37 1 197145707 197145707 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197145707 197145707 T A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.1866 p.K622N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 79 0 0 56 57 50.4425 ZBTB41 0 genome.wustl.edu 37 1 197169588 197169588 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197169588 197169588 T G SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.16 p.K6Q 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 76 0 0 88 32 26.6667 CRB1 0 genome.wustl.edu 37 1 197316596 197316596 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197316596 197316596 T C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.975 p.C325 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 105 0 0 85 22 20.5607 CRB1 0 genome.wustl.edu 37 1 197404523 197404523 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197404523 197404523 A G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.3530 p.N1177S 0.135 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 78 0 0 65 22 25.2874 LHX9 0 genome.wustl.edu 37 1 197896799 197896799 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 197896799 197896799 G A SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.812 p.R271Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 289 0 0 312 90 22.3881 PTPRC 0 genome.wustl.edu 37 1 198687388 198687388 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 198687388 198687388 T C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1616 p.F539S 0.053 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 43 0 0 58 17 22.6667 KIF14 0 genome.wustl.edu 37 1 200524575 200524575 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 200524575 200524575 T C SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.4361 p.K1454R 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 45 0 0 52 16 23.5294 KIF14 0 genome.wustl.edu 37 1 200573037 200573037 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 200573037 200573037 C T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1793 p.R598Q 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,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 54 0 0 67 19 22.093 KIF14 0 genome.wustl.edu 37 1 200587451 200587451 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 200587451 200587451 T C SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.401 p.K134R 0.045 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 132 0 0 135 12 8.16327 DDX59 0 genome.wustl.edu 37 1 200613475 200613475 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 200613475 200613475 T G SNP DDX59 ENST00000331314 human ensembl 74_37 -1 known missense c.1767 p.Q589H 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 146 0 0 145 41 22.043 DDX59 0 genome.wustl.edu 37 1 200619637 200619637 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 200619637 200619637 C A SNP DDX59 ENST00000331314 human ensembl 74_37 -1 known missense c.1230 p.K410N 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 102 0 0 73 60 45.1128 KIF21B 0 genome.wustl.edu 37 1 200944028 200944028 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 200944028 200944028 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.4628 p.A1543V 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 129 0 0 58 48 45.283 CACNA1S 0 genome.wustl.edu 37 1 201018159 201018159 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 201018159 201018159 T G SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.4310 p.K1437T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 43 0 0 24 10 29.4118 IGFN1 0 genome.wustl.edu 37 1 201195200 201195200 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 201195200 201195200 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10735 p.A3579T 0.125 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_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 65 0 0 29 18 38.2979 TNNT2 0 genome.wustl.edu 37 1 201332436 201332436 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 201332436 201332436 A G SNP TNNT2 ENST00000458432 human ensembl 74_37 -1 known silent c.594 p.G198 0.085 pfam_Troponin pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 296 0 0 203 51 20.0787 LMOD1 0 genome.wustl.edu 37 1 201869382 201869382 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 201869382 201869382 C A SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known missense c.759 p.E253D 0.088 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 34 0 0 32 6 15.7895 UBE2T 0 genome.wustl.edu 37 1 202301044 202301044 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 202301044 202301044 G A SNP UBE2T ENST00000367274 human ensembl 74_37 -1 known silent c.513 p.D171 0.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 211 0 0 176 62 26.0504 PPP1R12B 0 genome.wustl.edu 37 1 202418139 202418139 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 202418139 202418139 G A SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.1690 p.D564N 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 69 0 0 85 25 22.7273 KDM5B 0 genome.wustl.edu 37 1 202715102 202715102 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 202715102 202715102 T C SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.2315 p.Y772C 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 191 0 0 207 48 18.8235 LOC148709 0 genome.wustl.edu 37 1 202842502 202842502 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 202842502 202842502 G A SNP LOC148709 ENST00000456105 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-480I12.7 Clone_based_vega_gene ENSG00000234996 14 0 0 8 3 27.2727 TMEM183A 0 genome.wustl.edu 37 1 202977772 202977772 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 202977772 202977772 A G SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known silent c.201 p.V67 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 70 0 0 37 51 57.9545 CHI3L1 0 genome.wustl.edu 37 1 203150382 203150382 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 203150382 203150382 C T SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.619 p.D207N 0.996 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 115 0 0 55 50 47.619 ZC3H11A 0 genome.wustl.edu 37 1 203802956 203802956 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 203802956 203802956 A G SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known silent c.849 p.R283 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 129 1 0.769231 159 39 19.697 ZC3H11A 0 genome.wustl.edu 37 1 203807179 203807179 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 203807179 203807179 A C SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.960 p.K320N 0.999 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 54 0 0 56 22 28.2051 ZC3H11A 0 genome.wustl.edu 37 1 203820233 203820233 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 203820233 203820233 G A SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.2155 p.A719T 0.998 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 207 0 0 109 126 53.617 MDM4 0 genome.wustl.edu 37 1 204512067 204512067 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 204512067 204512067 A G SNP MDM4 ENST00000367182 human ensembl 74_37 +1 known missense c.667 p.N223D 1.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM4 HGNC ENSG00000198625 90 0 0 89 82 47.9532 MDM4 0 genome.wustl.edu 37 1 204518820 204518820 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 204518820 204518820 G A SNP MDM4 ENST00000463049 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors MDM4 HGNC ENSG00000198625 63 0 0 41 15 26.7857 NFASC 0 genome.wustl.edu 37 1 204953188 204953188 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 204953188 204953188 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2504 p.R835Q 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 64 0 0 61 15 19.7368 TMEM81 0 genome.wustl.edu 37 1 205053000 205053000 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 205053000 205053000 G A SNP TMEM81 ENST00000367167 human ensembl 74_37 -1 known missense c.449 p.A150V 0.000 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors TMEM81 HGNC ENSG00000174529 151 0 0 104 30 22.3881 TMEM81 0 genome.wustl.edu 37 1 205053297 205053297 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 205053297 205053297 A G SNP TMEM81 ENST00000367167 human ensembl 74_37 -1 known missense c.152 p.V51A 0.998 NULL pfscan_Ig-like_dom - no_errors TMEM81 HGNC ENSG00000174529 117 0 0 93 27 22.5 PM20D1 0 genome.wustl.edu 37 1 205797811 205797811 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 205797811 205797811 G T SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known silent c.1446 p.I482 0.986 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 67 0 0 34 42 55.2632 SLC26A9 0 genome.wustl.edu 37 1 205884154 205884154 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 205884154 205884154 C A SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.2530 p.D844Y 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 140 0 0 86 43 33.3333 IKBKE 0 genome.wustl.edu 37 1 206665007 206665007 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 206665007 206665007 G T SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.1760 p.R587I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IKBKE HGNC ENSG00000143466 104 0 0 73 16 17.9775 RASSF5 0 genome.wustl.edu 37 1 206760356 206760356 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 206760356 206760356 T G SNP RASSF5 ENST00000481486 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RASSF5 HGNC ENSG00000136653 35 0 0 27 27 50 DYRK3 0 genome.wustl.edu 37 1 206821076 206821076 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 206821076 206821076 G T SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known missense c.533 p.R178I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 251 0 0 198 50 20.1613 MAPKAPK2 0 genome.wustl.edu 37 1 206903322 206903322 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 206903322 206903322 G T SNP MAPKAPK2 ENST00000367103 human ensembl 74_37 +1 known missense c.570 p.E190D 1.000 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 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 - no_errors MAPKAPK2 HGNC ENSG00000162889 125 0 0 78 17 17.8947 MAPKAPK2 0 genome.wustl.edu 37 1 206904755 206904755 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 206904755 206904755 C T SNP MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 10 0 0 3 5 62.5 C4BPB 0 genome.wustl.edu 37 1 207273175 207273175 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207273175 207273175 G T SNP C4BPB ENST00000243611 human ensembl 74_37 +1 known missense c.660 p.E220D 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 130 0 0 58 76 56.7164 CD55 0 genome.wustl.edu 37 1 207495903 207495903 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207495903 207495903 T C SNP CD55 ENST00000314754 human ensembl 74_37 +1 known missense c.277 p.F93L 0.871 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 88 0 0 62 17 21.519 CR2 0 genome.wustl.edu 37 1 207642169 207642169 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207642169 207642169 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.659 p.R220Q 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 91 0 0 103 30 22.5564 CR2 0 genome.wustl.edu 37 1 207648237 207648237 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207648237 207648237 C A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.2392 p.L798I 0.323 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 164 0 0 167 49 22.6852 CR2 0 genome.wustl.edu 37 1 207648254 207648254 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207648254 207648254 C A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known silent c.2409 p.V803 0.883 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 150 0 0 169 56 24.8889 CR1L 0 genome.wustl.edu 37 1 207851610 207851610 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207851610 207851610 C T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known silent c.345 p.F115 0.597 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 77 0 0 51 39 43.3333 CR1L 0 genome.wustl.edu 37 1 207890813 207890813 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207890813 207890813 C A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known silent c.1419 p.I473 0.547 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 113 0 0 71 75 51.3699 C1orf132 0 genome.wustl.edu 37 1 207975264 207975264 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 207975264 207975264 C T SNP C1orf132 ENST00000385231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors C1orf132 HGNC ENSG00000203709 14 0 0 6 5 45.4545 PLXNA2 0 genome.wustl.edu 37 1 208202319 208202319 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 208202319 208202319 C A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.5294 p.S1765I 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 115 0 0 88 35 28.4553 PLXNA2 0 genome.wustl.edu 37 1 208390238 208390238 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 208390238 208390238 T G SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.1030 p.K344Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 81 0 0 33 42 56 FAM43B 0 genome.wustl.edu 37 1 20879493 20879493 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 20879493 20879493 C T SNP FAM43B ENST00000332947 human ensembl 74_37 +1 known silent c.27 p.F9 1.000 NULL smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 53 0 0 28 8 22.2222 KIF17 0 genome.wustl.edu 37 1 20991151 20991151 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 20991151 20991151 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.3016 p.E1006K 0.915 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 184 0 0 95 30 24 TRAF3IP3 0 genome.wustl.edu 37 1 209936186 209936186 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 209936186 209936186 A C SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known silent c.522 p.T174 0.828 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 160 0 0 139 62 30.8458 TRAF3IP3 0 genome.wustl.edu 37 1 209936841 209936841 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 209936841 209936841 C T SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.611 p.A204V 1.000 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 75 0 0 57 14 19.7183 DIEXF 0 genome.wustl.edu 37 1 210024594 210024594 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 210024594 210024594 G A SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known silent c.2073 p.P691 0.610 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 67 0 0 68 20 22.7273 SYT14 0 genome.wustl.edu 37 1 210334179 210334179 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 210334179 210334179 T G SNP SYT14 ENST00000422431 human ensembl 74_37 +1 known missense c.1652 p.F551C 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 - no_errors SYT14 HGNC ENSG00000143469 145 0 0 121 33 21.4286 SYT14 0 genome.wustl.edu 37 1 210334372 210334372 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 210334372 210334372 G A SNP SYT14 ENST00000422431 human ensembl 74_37 +1 known silent c.1845 p.A615 0.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT14 HGNC ENSG00000143469 124 0 0 122 19 13.4752 KCNH1 0 genome.wustl.edu 37 1 210856661 210856661 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 210856661 210856661 A G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2932 p.S978P 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 192 0 0 145 33 18.5393 KCNH1 0 genome.wustl.edu 37 1 210977369 210977369 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 210977369 210977369 C T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.1602 p.E534 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 117 0 0 60 50 45.4545 KCNH1 0 genome.wustl.edu 37 1 211093016 211093016 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 211093016 211093016 C A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1428 p.E476D 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 205 0 0 181 47 20.614 RCOR3 0 genome.wustl.edu 37 1 211451540 211451540 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 211451540 211451540 C T SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.424 p.R142C 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 175 0 0 177 47 20.9821 RD3 0 genome.wustl.edu 37 1 211654646 211654646 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 211654646 211654646 G A SNP RD3 ENST00000367002 human ensembl 74_37 -1 known nonsense c.112 p.R38* 0.999 NULL NULL - no_errors RD3 HGNC ENSG00000198570 161 0 0 60 72 54.5455 LPGAT1 0 genome.wustl.edu 37 1 211956643 211956643 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 211956643 211956643 T G SNP LPGAT1 ENST00000366997 human ensembl 74_37 -1 known missense c.655 p.K219Q 0.995 pfam_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPGAT1 HGNC ENSG00000123684 83 0 0 67 33 33 EIF4G3 0 genome.wustl.edu 37 1 21220089 21220089 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 21220089 21220089 C T SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.2024 p.R675Q 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 104 0 0 63 31 32.9787 PPP2R5A 0 genome.wustl.edu 37 1 212515594 212515594 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 212515594 212515594 G A SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known missense c.545 p.R182Q 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 91 0 0 105 26 19.8473 RPS6KC1 0 genome.wustl.edu 37 1 213341250 213341250 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 213341250 213341250 G A SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known silent c.885 p.E295 0.991 pfam_MIT,smart_MIT pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 77 0 0 43 39 47.561 PROX1 0 genome.wustl.edu 37 1 214171593 214171593 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214171593 214171593 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1715 p.S572L 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 131 0 0 132 32 19.5122 SMYD2 0 genome.wustl.edu 37 1 214492285 214492285 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214492285 214492285 G A SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known missense c.493 p.G165R 0.907 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 117 0 0 101 36 26.2774 PTPN14 0 genome.wustl.edu 37 1 214551407 214551407 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214551407 214551407 C A SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.2583 p.Q861H 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 108 0 0 69 18 20.6897 CENPF 0 genome.wustl.edu 37 1 214794191 214794191 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214794191 214794191 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.767 p.R256Q 0.008 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 142 0 0 150 41 21.466 CENPF 0 genome.wustl.edu 37 1 214802406 214802406 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214802406 214802406 A C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.1086 p.Q362H 0.997 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 41 0 0 47 20 29.8507 CENPF 0 genome.wustl.edu 37 1 214813974 214813974 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214813974 214813974 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.2293 p.D765N 0.001 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 70 0 0 56 13 18.8406 CENPF 0 genome.wustl.edu 37 1 214815908 214815908 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214815908 214815908 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.4227 p.E1409D 0.967 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 54 0 0 69 12 14.8148 CENPF 0 genome.wustl.edu 37 1 214816283 214816283 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214816283 214816283 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.4602 p.E1534D 0.061 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 81 0 0 72 29 28.7129 CENPF 0 genome.wustl.edu 37 1 214826201 214826201 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214826201 214826201 A G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.8191 p.K2731E 0.695 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 78 0 0 43 55 56.1224 KCNK2 0 genome.wustl.edu 37 1 215259996 215259996 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 215259996 215259996 C T SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.332 p.S111L 0.929 prints_2pore_dom_K_chnl_TREK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 216 0 0 113 118 51.0823 KCNK2 0 genome.wustl.edu 37 1 215297989 215297989 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 215297989 215297989 C T SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 145 0 0 153 50 24.6305 ECE1 0 genome.wustl.edu 37 1 21546588 21546588 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 21546588 21546588 C T SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known missense c.2173 p.E725K 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 87 0 0 27 16 37.2093 ECE1 0 genome.wustl.edu 37 1 21551860 21551860 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 21551860 21551860 C T SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known silent c.1923 p.Q641 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 106 0 0 49 14 22.2222 KCTD3 0 genome.wustl.edu 37 1 215792219 215792219 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 215792219 215792219 C A SNP KCTD3 ENST00000465650 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors KCTD3 HGNC ENSG00000136636 80 0 0 72 14 16.2791 KCTD3 0 genome.wustl.edu 37 1 215792499 215792499 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 215792499 215792499 A C SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known silent c.1752 p.V584 0.995 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 157 0 0 129 35 21.3415 USH2A 0 genome.wustl.edu 37 1 215812516 215812516 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 215812516 215812516 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known nonsense c.15033 p.Y5011* 0.891 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 231 0 0 239 62 20.598 USH2A 0 genome.wustl.edu 37 1 216108085 216108085 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 216108085 216108085 T A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7173 p.E2391D 0.048 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 130 0 0 75 68 47.5524 USH2A 0 genome.wustl.edu 37 1 216270438 216270438 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 216270438 216270438 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4745 p.L1582R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 49 0 0 54 7 11.4754 USH2A 0 genome.wustl.edu 37 1 216380731 216380731 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 216380731 216380731 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3200 p.S1067Y 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 130 0 0 107 28 20.7407 USH2A 0 genome.wustl.edu 37 1 216420132 216420132 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 216420132 216420132 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.2604 p.C868 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 276 0 0 245 78 24.1486 SPATA17 0 genome.wustl.edu 37 1 217947760 217947760 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 217947760 217947760 C T SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known nonsense c.604 p.R202* 0.007 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 108 0 0 101 12 10.6195 SPATA17 0 genome.wustl.edu 37 1 217955597 217955597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 217955597 217955597 G A SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.805 p.D269N 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 77 0 0 77 20 20.6186 TGFB2 0 genome.wustl.edu 37 1 218578621 218578621 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 218578621 218578621 C T SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known missense c.541 p.R181C 1.000 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGFb2 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 340 0 0 259 63 19.5652 LYPLAL1 0 genome.wustl.edu 37 1 219384943 219384943 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 219384943 219384943 C A SNP LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known missense c.587 p.S196Y 0.825 pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 155 0 0 136 50 26.8817 USP48 0 genome.wustl.edu 37 1 22005786 22005786 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 22005786 22005786 T G SNP USP48 ENST00000479177 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP48 HGNC ENSG00000090686 43 0 0 27 13 32.5 IARS2 0 genome.wustl.edu 37 1 220279257 220279257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 220279257 220279257 G A SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.1091 p.C364Y 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 117 0 0 124 43 25.7485 MIR215 0 genome.wustl.edu 37 1 220291244 220291244 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 220291244 220291244 A C SNP MIR215 ENST00000384858 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR215 HGNC ENSG00000207590 31 0 0 14 17 54.8387 RAB3GAP2 0 genome.wustl.edu 37 1 220440069 220440069 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 220440069 220440069 C A SNP RAB3GAP2 ENST00000462353 human ensembl 74_37 -1 known rna NULL NULL 0.471 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 76 0 0 35 38 52.0548 USP48 0 genome.wustl.edu 37 1 22055105 22055105 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 22055105 22055105 C T SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.1408 p.E470K 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 172 0 0 84 53 38.6861 USP48 0 genome.wustl.edu 37 1 22056301 22056301 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 22056301 22056301 C T SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.1196 p.R399H 0.992 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 178 0 0 106 50 32.0513 USP48 0 genome.wustl.edu 37 1 22084131 22084131 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 22084131 22084131 A C SNP USP48 ENST00000489108 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors USP48 HGNC ENSG00000090686 37 0 0 43 10 18.8679 MIA3 0 genome.wustl.edu 37 1 222802768 222802768 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 222802768 222802768 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.2206 p.A736T 0.986 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 115 0 0 93 29 23.7705 MIA3 0 genome.wustl.edu 37 1 222819059 222819059 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 222819059 222819059 A C SNP MIA3 ENST00000470521 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIA3 HGNC ENSG00000154305 41 0 0 39 11 22 BROX 0 genome.wustl.edu 37 1 222906034 222906034 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 222906034 222906034 A G SNP BROX ENST00000539697 human ensembl 74_37 +1 known missense c.1118 p.D373G 1.000 pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 58 0 0 47 17 26.5625 DISP1 0 genome.wustl.edu 37 1 223177427 223177427 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 223177427 223177427 G A SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.2688 p.E896 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 122 0 0 73 22 23.1579 SUSD4 0 genome.wustl.edu 37 1 223395482 223395482 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 223395482 223395482 A G SNP SUSD4 ENST00000478605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SUSD4 HGNC ENSG00000143502 132 0 0 71 58 44.9612 C1orf65 0 genome.wustl.edu 37 1 223568033 223568033 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 223568033 223568033 C T SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.1216 p.R406C 0.000 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 61 0 0 28 25 47.1698 CAPN2 0 genome.wustl.edu 37 1 223946952 223946952 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 223946952 223946952 T C SNP CAPN2 ENST00000474026 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CAPN2 HGNC ENSG00000162909 59 0 0 39 18 31.5789 TP53BP2 0 genome.wustl.edu 37 1 223984003 223984003 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 223984003 223984003 C T SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known silent c.2238 p.E746 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 226 0 0 169 60 26.2009 TP53BP2 0 genome.wustl.edu 37 1 223988509 223988509 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 223988509 223988509 G T SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.1229 p.S410Y 0.592 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 73 0 0 65 15 18.75 FBXO28 0 genome.wustl.edu 37 1 224321810 224321810 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 224321810 224321810 C T SNP FBXO28 ENST00000366862 human ensembl 74_37 +1 known missense c.412 p.R138C 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 33 0 0 13 22 62.8571 CNIH3 0 genome.wustl.edu 37 1 224849073 224849073 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 224849073 224849073 G A SNP CNIH3 ENST00000496277 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CNIH3 HGNC ENSG00000143786 26 0 0 16 14 46.6667 LBR 0 genome.wustl.edu 37 1 225599097 225599097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 225599097 225599097 C T SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1130 p.R377Q 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 118 0 0 76 85 52.795 LIN9 0 genome.wustl.edu 37 1 226421140 226421140 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 226421140 226421140 G A SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known missense c.1378 p.R460W 0.939 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 192 0 0 175 48 21.5247 ITPKB 0 genome.wustl.edu 37 1 226825420 226825420 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 226825420 226825420 C T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.2585 p.R862Q 0.994 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 45 0 0 32 14 30.4348 CDC42BPA 0 genome.wustl.edu 37 1 227219208 227219208 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 227219208 227219208 G A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.3461 p.A1154V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 140 0 0 119 37 23.7179 CDC42BPA 0 genome.wustl.edu 37 1 227333279 227333279 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 227333279 227333279 G A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.1054 p.R352W 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 122 0 0 149 42 21.9895 CDC42BPA 0 genome.wustl.edu 37 1 227400862 227400862 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 227400862 227400862 T G SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.329 p.K110T 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 41 0 0 71 17 19.3182 ZNF678 0 genome.wustl.edu 37 1 227842301 227842301 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 227842301 227842301 G T SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.515 p.R172I 0.760 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 ZNF678 HGNC ENSG00000181450 89 0 0 88 28 24.1379 ZNF678 0 genome.wustl.edu 37 1 227843225 227843225 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 227843225 227843225 G T SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.1439 p.R480I 0.309 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 ZNF678 HGNC ENSG00000181450 52 0 0 56 15 21.1268 ZNF678 0 genome.wustl.edu 37 1 227843477 227843477 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 227843477 227843477 G T SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.1691 p.R564I 0.979 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 ZNF678 HGNC ENSG00000181450 81 0 0 56 40 41.6667 ZBTB40 0 genome.wustl.edu 37 1 22816534 22816534 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 22816534 22816534 T C SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known silent c.93 p.G31 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 103 0 0 56 24 30 WNT3A 0 genome.wustl.edu 37 1 228238550 228238550 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228238550 228238550 C T SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known silent c.507 p.F169 0.977 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 87 0 0 45 15 25 WNT3A 0 genome.wustl.edu 37 1 228238597 228238597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228238597 228238597 G A SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.554 p.R185H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 54 0 0 19 17 47.2222 ARF1 0 genome.wustl.edu 37 1 228285837 228285837 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228285837 228285837 G A SNP ARF1 ENST00000470558 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARF1 HGNC ENSG00000143761 22 0 0 14 4 22.2222 ARF1 0 genome.wustl.edu 37 1 228285857 228285857 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228285857 228285857 G A SNP ARF1 ENST00000470558 human ensembl 74_37 +1 known rna NULL NULL 0.852 - - - no_errors ARF1 HGNC ENSG00000143761 13 0 0 11 4 26.6667 LOC100129534 0 genome.wustl.edu 37 1 2283185 2283185 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 2283185 2283185 C A SNP LOC100129534 ENST00000602865 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP4-740C4.6 Clone_based_vega_gene ENSG00000269896 54 0 0 21 9 30 OBSCN 0 genome.wustl.edu 37 1 228402664 228402664 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228402664 228402664 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.1693 p.E565K 0.663 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 41 0 0 29 11 27.5 OBSCN 0 genome.wustl.edu 37 1 228434331 228434331 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228434331 228434331 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3860 p.T1287I 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 165 0 0 70 69 49.6403 OBSCN 0 genome.wustl.edu 37 1 228451947 228451947 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228451947 228451947 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4716 p.K1572N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 124 0 0 48 58 54.717 OBSCN 0 genome.wustl.edu 37 1 228511096 228511096 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228511096 228511096 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.15441 p.C5147 0.550 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 33 0 0 18 3 14.2857 OBSCN 0 genome.wustl.edu 37 1 228527683 228527683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 228527683 228527683 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.17296 p.D5766N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 130 0 0 56 53 48.6239 NUP133 0 genome.wustl.edu 37 1 229580703 229580703 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 229580703 229580703 C A SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.3292 p.D1098Y 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 110 0 0 95 82 46.3277 ABCB10 0 genome.wustl.edu 37 1 229653939 229653939 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 229653939 229653939 A C SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.2204 p.F735C 0.249 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 80 0 0 59 53 47.3214 ABCB10 0 genome.wustl.edu 37 1 229675310 229675310 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 229675310 229675310 A C SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.1232 p.L411R 0.995 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 136 0 0 71 69 49.2857 ABCB10 0 genome.wustl.edu 37 1 229683424 229683424 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 229683424 229683424 C A SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.743 p.R248I 0.993 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 87 0 0 72 15 17.2414 PGBD5 0 genome.wustl.edu 37 1 230468774 230468774 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 230468774 230468774 G A SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.1179 p.C393 0.943 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 17 0 0 9 7 43.75 COG2 0 genome.wustl.edu 37 1 230795218 230795218 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 230795218 230795218 C T SNP COG2 ENST00000366669 human ensembl 74_37 +1 known silent c.81 p.F27 0.995 pfam_COG_su2_N pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 102 0 0 46 60 56.6038 COG2 0 genome.wustl.edu 37 1 230805215 230805215 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 230805215 230805215 G A SNP COG2 ENST00000366669 human ensembl 74_37 +1 known silent c.708 p.T236 0.567 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 70 0 0 47 47 50 TTC13 0 genome.wustl.edu 37 1 231079614 231079614 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 231079614 231079614 C T SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.610 p.E204K 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 131 0 0 123 42 25.4545 TRIM67 0 genome.wustl.edu 37 1 231349577 231349577 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 231349577 231349577 T C SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.2140 p.C714R 0.995 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 192 0 0 79 96 54.8571 C1orf131 0 genome.wustl.edu 37 1 231374789 231374789 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 231374789 231374789 C T SNP C1orf131 ENST00000366649 human ensembl 74_37 -1 known silent c.264 p.S88 0.017 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 67 0 0 74 26 26 EXOC8 0 genome.wustl.edu 37 1 231471824 231471824 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 231471824 231471824 G A SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known silent c.1668 p.H556 1.000 NULL superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 112 0 0 65 73 52.8986 EPHB2 0 genome.wustl.edu 37 1 23235657 23235657 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 23235657 23235657 A G SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.2495 p.N832S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 93 0 0 54 17 23.9437 SIPA1L2 0 genome.wustl.edu 37 1 232538143 232538143 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 232538143 232538143 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.5017 p.R1673W 0.586 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 48 0 0 29 26 47.2727 SIPA1L2 0 genome.wustl.edu 37 1 232596771 232596771 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 232596771 232596771 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.2957 p.R986H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 176 0 0 141 42 22.9508 SIPA1L2 0 genome.wustl.edu 37 1 232615380 232615380 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 232615380 232615380 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.2078 p.R693K 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 83 0 0 89 15 14.4231 SIPA1L2 0 genome.wustl.edu 37 1 232649902 232649902 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 232649902 232649902 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1184 p.A395V 0.931 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 289 1 0.344828 132 132 50 KIAA1804 0 genome.wustl.edu 37 1 233482190 233482190 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 233482190 233482190 T G SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.808 p.L270V 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 78 0 0 61 26 29.8851 KIAA1804 0 genome.wustl.edu 37 1 233490640 233490640 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 233490640 233490640 G T SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.1194 p.L398F 0.997 pirsf_MAPKKK9/10/11,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 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 178 0 0 77 83 51.875 COA6 0 genome.wustl.edu 37 1 234509574 234509574 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 234509574 234509574 C A SNP COA6 ENST00000366613 human ensembl 74_37 +1 novel missense c.110 p.S37Y 0.001 superfamily_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B - no_errors COA6 HGNC ENSG00000168275 81 0 0 58 16 21.6216 ARID4B 0 genome.wustl.edu 37 1 235377167 235377167 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235377167 235377167 T G SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.1758 p.K586N 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Tudor pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 191 0 0 101 131 56.4655 ARID4B 0 genome.wustl.edu 37 1 235383751 235383751 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235383751 235383751 C A SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known nonsense c.1273 p.E425* 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 44 0 0 65 17 20.7317 LYST 0 genome.wustl.edu 37 1 235887376 235887376 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235887376 235887376 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.9267 p.I3089 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 86 0 0 95 23 19.4915 LYST 0 genome.wustl.edu 37 1 235897198 235897198 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235897198 235897198 C A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.8544 p.K2848N 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 58 0 0 91 25 21.5517 LYST 0 genome.wustl.edu 37 1 235944236 235944236 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235944236 235944236 C A SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.5143 p.E1715* 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 23 0 0 32 30 48.3871 LYST 0 genome.wustl.edu 37 1 235972028 235972028 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235972028 235972028 T G SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.2090 p.Q697P 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 53 0 0 57 12 17.3913 LYST 0 genome.wustl.edu 37 1 235972915 235972915 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 235972915 235972915 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.1203 p.L401 0.972 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 174 0 0 95 118 55.3991 HNRNPR 0 genome.wustl.edu 37 1 23637094 23637094 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 23637094 23637094 A G SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known silent c.1764 p.R588 0.996 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 268 0 0 138 71 33.9713 HEATR1 0 genome.wustl.edu 37 1 236746034 236746034 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 236746034 236746034 A C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known splice_site c.2562+2 e18+2 1.000 - - - no_errors HEATR1 HGNC ENSG00000119285 144 0 0 131 44 25.1429 HEATR1 0 genome.wustl.edu 37 1 236749198 236749198 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 236749198 236749198 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.1971 p.I657 0.536 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 51 0 0 60 16 21.0526 HEATR1 0 genome.wustl.edu 37 1 236754253 236754253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 236754253 236754253 A C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.1424 p.F475C 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 38 0 0 30 24 44.4444 ACTN2 0 genome.wustl.edu 37 1 236907933 236907933 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 236907933 236907933 G T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1263 p.E421D 0.987 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 52 0 0 40 13 24.5283 ACTN2 0 genome.wustl.edu 37 1 236908053 236908053 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 236908053 236908053 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.1383 p.I461 0.553 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 80 0 0 35 36 50.7042 MTR 0 genome.wustl.edu 37 1 236992548 236992548 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 236992548 236992548 A C SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.1055 p.E352A 1.000 superfamily_S_MeTrfase,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 163 1 0.609756 155 36 18.8482 RYR2 0 genome.wustl.edu 37 1 237617847 237617847 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 237617847 237617847 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1443 p.K481N 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 39 0 0 40 8 16.6667 ASAP3 0 genome.wustl.edu 37 1 23768696 23768696 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 23768696 23768696 G T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.654 p.F218L 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 13 0 0 8 7 46.6667 RYR2 0 genome.wustl.edu 37 1 237880516 237880516 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 237880516 237880516 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.10336 p.E3446K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 40 0 0 14 9 39.1304 RYR2 0 genome.wustl.edu 37 1 237935360 237935360 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 237935360 237935360 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11624 p.N3875S 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 8 0 0 4 5 55.5556 RYR2 0 genome.wustl.edu 37 1 237947276 237947276 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 237947276 237947276 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.12282 p.H4094 0.383 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 42 0 0 41 21 33.871 RYR2 0 genome.wustl.edu 37 1 237947421 237947421 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 237947421 237947421 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12427 p.E4143K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 118 0 0 88 30 25.4237 RYR2 0 genome.wustl.edu 37 1 237947567 237947567 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 237947567 237947567 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12573 p.K4191N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 128 0 0 126 39 23.6364 LOC100130331 0 genome.wustl.edu 37 1 238090214 238090214 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 238090214 238090214 A C SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 27 0 0 17 11 39.2857 CHRM3 0 genome.wustl.edu 37 1 240071148 240071148 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 240071148 240071148 C T SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known nonsense c.397 p.R133* 0.948 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 117 0 0 78 32 29.0909 FMN2 0 genome.wustl.edu 37 1 240370340 240370340 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 240370340 240370340 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2228 p.S743L 0.998 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 71 0 0 49 11 18.3333 FMN2 0 genome.wustl.edu 37 1 240492436 240492436 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 240492436 240492436 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4276 p.E1426K 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 103 0 0 95 27 22.1311 FMN2 0 genome.wustl.edu 37 1 240492457 240492457 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 240492457 240492457 A C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4297 p.K1433Q 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 94 0 0 87 39 30.9524 FMN2 0 genome.wustl.edu 37 1 240497233 240497233 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 240497233 240497233 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4631 p.R1544Q 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 38 0 0 32 5 13.5135 WDR64 0 genome.wustl.edu 37 1 241946608 241946608 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 241946608 241946608 C A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2600 p.S867Y 0.992 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 72 0 0 70 13 15.6627 PLD5 0 genome.wustl.edu 37 1 242271009 242271009 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 242271009 242271009 C T SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.1203 p.A401 0.996 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 164 0 0 167 60 26.4317 PLD5 0 genome.wustl.edu 37 1 242271076 242271076 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 242271076 242271076 C T SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.1136 p.R379Q 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 149 0 0 88 77 46.6667 CEP170 0 genome.wustl.edu 37 1 243328764 243328764 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 243328764 243328764 A C SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known nonsense c.2498 p.L833* 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 27 0 0 17 17 50 AKT3 0 genome.wustl.edu 37 1 243778458 243778458 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 243778458 243778458 T C SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known silent c.567 p.E189 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 40 0 0 22 23 51.1111 MYOM3 0 genome.wustl.edu 37 1 24410928 24410928 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 24410928 24410928 G A SNP MYOM3 ENST00000475306 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors MYOM3 HGNC ENSG00000142661 101 0 0 49 37 43.0233 MYOM3 0 genome.wustl.edu 37 1 24413228 24413228 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 24413228 24413228 C A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.1707 p.K569N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 142 0 0 64 23 26.4368 ZBTB18 0 genome.wustl.edu 37 1 244217801 244217801 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 244217801 244217801 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.725 p.S242L 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 174 0 0 144 47 24.6073 MYOM3 0 genome.wustl.edu 37 1 24421951 24421951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 24421951 24421951 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.774 p.F258 0.999 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 173 0 0 97 34 25.9542 C1orf100 0 genome.wustl.edu 37 1 244552296 244552296 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 244552296 244552296 G A SNP C1orf100 ENST00000308105 human ensembl 74_37 +1 known silent c.369 p.P123 0.680 NULL NULL - no_errors C1orf100 HGNC ENSG00000173728 156 0 0 126 43 25.4438 HNRNPU 0 genome.wustl.edu 37 1 245022042 245022042 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 245022042 245022042 T C SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known missense c.1219 p.T407A 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 29 0 0 22 27 55.102 EFCAB2 0 genome.wustl.edu 37 1 245245415 245245415 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 245245415 245245415 C T SNP EFCAB2 ENST00000366522 human ensembl 74_37 +1 known nonsense c.622 p.R208* 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB2 HGNC ENSG00000203666 128 0 0 123 29 19.0789 KIF26B 0 genome.wustl.edu 37 1 245809568 245809568 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 245809568 245809568 A G SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.2244 p.K748 0.967 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 34 0 0 45 3 6.25 KIF26B 0 genome.wustl.edu 37 1 245849116 245849116 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 245849116 245849116 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.2831 p.S944N 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 57 0 0 30 10 25 TFB2M 0 genome.wustl.edu 37 1 246727664 246727664 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 246727664 246727664 A C SNP TFB2M ENST00000366514 human ensembl 74_37 -1 known missense c.386 p.F129C 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 70 0 0 51 27 34.6154 CNST 0 genome.wustl.edu 37 1 246811464 246811464 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 246811464 246811464 C T SNP CNST ENST00000483271 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNST HGNC ENSG00000162852 15 0 0 11 5 31.25 ZNF695 0 genome.wustl.edu 37 1 247162690 247162690 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 247162690 247162690 C T SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known silent c.219 p.E73 0.418 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 ZNF695 HGNC ENSG00000197472 77 0 0 38 41 51.8987 NIPAL3 0 genome.wustl.edu 37 1 24746100 24746100 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 24746100 24746100 C T SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known silent c.63 p.S21 0.000 NULL pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 42 0 0 17 20 54.0541 NLRP3 0 genome.wustl.edu 37 1 247582372 247582372 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 247582372 247582372 G A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.276 p.P92 0.000 superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP3 HGNC ENSG00000162711 48 0 0 37 7 15.9091 NLRP3 0 genome.wustl.edu 37 1 247588450 247588450 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 247588450 247588450 G A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1705 p.E569K 0.853 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 NLRP3 HGNC ENSG00000162711 79 0 0 35 39 52.7027 OR2G3 0 genome.wustl.edu 37 1 247769596 247769596 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 247769596 247769596 G A SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.709 p.A237T 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 OR2G3 HGNC ENSG00000177476 82 0 0 51 33 39.2857 OR14A16 0 genome.wustl.edu 37 1 247978292 247978292 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 247978292 247978292 A G SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.740 p.L247S 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 74 0 0 58 22 27.5 TRIM58 0 genome.wustl.edu 37 1 248039649 248039649 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248039649 248039649 T G SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.1319 p.F440C 0.112 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 280 0 0 135 123 47.6744 OR2AK2 0 genome.wustl.edu 37 1 248128684 248128684 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248128684 248128684 A C SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.51 p.K17N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 149 0 0 108 39 26.5306 OR2L2 0 genome.wustl.edu 37 1 248202363 248202363 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248202363 248202363 G A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.794 p.R265Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 168 0 0 141 45 24.1935 OR2L3 0 genome.wustl.edu 37 1 248224049 248224049 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248224049 248224049 T C SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.66 p.I22 0.023 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 470 0 0 233 268 53.493 OR2L3 0 genome.wustl.edu 37 1 248224853 248224853 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248224853 248224853 C T SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.870 p.S290 0.998 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 133 0 0 55 86 60.9929 OR2M4 0 genome.wustl.edu 37 1 248403071 248403071 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248403071 248403071 C A SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.841 p.L281I 0.706 pfam_GPCR_Rhodpsn,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 OR2M4 HGNC ENSG00000171180 98 0 0 45 64 58.7156 OR2T12 0 genome.wustl.edu 37 1 248458301 248458301 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248458301 248458301 C T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.580 p.E194K 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 138 0 0 118 26 18.0556 OR2M7 0 genome.wustl.edu 37 1 248486997 248486997 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248486997 248486997 G T SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.874 p.L292I 0.095 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 98 0 0 81 35 30.1724 OR2T1 0 genome.wustl.edu 37 1 248569654 248569654 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248569654 248569654 A G SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.359 p.D120G 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 285 0 0 205 46 18.3267 OR2T1 0 genome.wustl.edu 37 1 248570369 248570369 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248570369 248570369 C A SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.1074 p.F358L 0.006 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 259 0 0 185 57 23.5537 OR2G6 0 genome.wustl.edu 37 1 248684964 248684964 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248684964 248684964 A G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.17 p.N6S 0.009 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 127 0 0 152 34 18.2796 OR2G6 0 genome.wustl.edu 37 1 248685634 248685634 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248685634 248685634 A C SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.687 p.K229N 0.299 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 124 0 0 105 22 17.3228 OR14I1 0 genome.wustl.edu 37 1 248845530 248845530 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248845530 248845530 C T SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known missense c.76 p.A26T 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 79 0 0 50 34 40.4762 SYF2 0 genome.wustl.edu 37 1 25554613 25554613 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 25554613 25554613 A C SNP SYF2 ENST00000236273 human ensembl 74_37 -1 known missense c.372 p.F124L 1.000 pfam_mRNA_splic_SYF2 pfam_mRNA_splic_SYF2 - no_errors SYF2 HGNC ENSG00000117614 115 0 0 65 34 34.3434 RHD 0 genome.wustl.edu 37 1 25655390 25655390 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 25655390 25655390 T G SNP RHD ENST00000328664 human ensembl 74_37 +1 known missense c.1229 p.F410C 0.996 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 45 0 0 22 16 42.1053 LDLRAP1 0 genome.wustl.edu 37 1 25891489 25891489 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 25891489 25891489 C T SNP LDLRAP1 ENST00000488127 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LDLRAP1 HGNC ENSG00000157978 25 0 0 15 9 37.5 MAN1C1 0 genome.wustl.edu 37 1 26110217 26110217 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26110217 26110217 C T SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known silent c.1830 p.T610 0.003 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 85 0 0 48 26 35.1351 AUNIP 0 genome.wustl.edu 37 1 26185789 26185789 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26185789 26185789 C T SNP AUNIP ENST00000538789 human ensembl 74_37 -1 known silent c.60 p.L20 1.000 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 11 0 0 4 2 33.3333 SLC30A2 0 genome.wustl.edu 37 1 26371619 26371619 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26371619 26371619 G A SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known missense c.140 p.A47V 0.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 277 1 0.359712 110 54 32.9268 FAM110D 0 genome.wustl.edu 37 1 26487894 26487894 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26487894 26487894 C T SNP FAM110D ENST00000374268 human ensembl 74_37 +1 known nonsense c.112 p.R38* 0.771 NULL NULL - no_errors FAM110D HGNC ENSG00000197245 16 0 0 6 3 33.3333 CD52 0 genome.wustl.edu 37 1 26646686 26646686 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26646686 26646686 A C SNP CD52 ENST00000374213 human ensembl 74_37 +1 known missense c.79 p.N27H 0.000 NULL NULL - no_errors CD52 HGNC ENSG00000169442 98 0 0 41 25 37.8788 AIM1L 0 genome.wustl.edu 37 1 26655305 26655305 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26655305 26655305 G A SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known silent c.1752 p.I584 0.037 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 180 0 0 78 37 32.1739 ZNF683 0 genome.wustl.edu 37 1 26691442 26691442 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 26691442 26691442 G T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.595 p.L199I 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 77 0 0 16 11 40.7407 ARID1A 0 genome.wustl.edu 37 1 27094302 27094302 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27094302 27094302 A G SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3010 p.T1004A 1.000 superfamily_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 93 0 0 35 24 40.678 ARID1A 0 genome.wustl.edu 37 1 27097788 27097788 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27097788 27097788 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3377 p.S1126F 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 79 0 0 39 7 15.2174 PIGV 0 genome.wustl.edu 37 1 27121613 27121613 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27121613 27121613 A C SNP PIGV ENST00000078527 human ensembl 74_37 +1 known missense c.1088 p.N363T 0.000 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 206 1 0.483092 94 66 41.25 GPATCH3 0 genome.wustl.edu 37 1 27217691 27217691 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27217691 27217691 A C SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known missense c.1388 p.F463C 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 56 0 0 31 16 34.0426 MAP3K6 0 genome.wustl.edu 37 1 27688646 27688646 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27688646 27688646 C T SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.1351 p.A451T 0.998 NULL 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 MAP3K6 HGNC ENSG00000142733 72 0 0 27 16 37.2093 FCN3 0 genome.wustl.edu 37 1 27697428 27697428 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27697428 27697428 G T SNP FCN3 ENST00000270879 human ensembl 74_37 -1 known missense c.429 p.F143L 0.989 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN3 HGNC ENSG00000142748 122 0 0 58 25 30.1205 WASF2 0 genome.wustl.edu 37 1 27745548 27745548 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27745548 27745548 C T SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.172 p.A58T 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 129 0 0 63 48 43.2432 AHDC1 0 genome.wustl.edu 37 1 27876445 27876445 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27876445 27876445 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.2182 p.R728W 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 67 0 0 32 20 38.4615 FGR 0 genome.wustl.edu 37 1 27939476 27939476 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 27939476 27939476 C A SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.1539 p.E513D 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 67 0 0 29 17 36.9565 EYA3 0 genome.wustl.edu 37 1 28319925 28319925 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 28319925 28319925 T G SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.1289 p.K430T 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 188 0 0 110 43 28.1046 SNHG12 0 genome.wustl.edu 37 1 28905055 28905055 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 28905055 28905055 T G SNP SNHG12 ENST00000475441 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG12 HGNC ENSG00000197989 27 0 0 10 10 50 SNHG12 0 genome.wustl.edu 37 1 28906436 28906436 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 28906436 28906436 C T SNP SNHG12 ENST00000488745 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors SNHG12 HGNC ENSG00000197989 63 0 0 27 17 38.6364 GMEB1 0 genome.wustl.edu 37 1 29041386 29041386 + RNA SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 29041386 29041386 A T SNP GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 13 0 0 7 2 22.2222 PTPRU 0 genome.wustl.edu 37 1 29605969 29605969 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 29605969 29605969 T C SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1565 p.I522T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 135 0 0 47 35 42.6829 MATN1 0 genome.wustl.edu 37 1 31191761 31191761 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 31191761 31191761 T C SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.485 p.Q162R 0.985 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 17 0 0 5 4 44.4444 PUM1 0 genome.wustl.edu 37 1 31532388 31532388 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 31532388 31532388 C A SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.26 p.R9I 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 134 0 0 61 38 38.3838 COL16A1 0 genome.wustl.edu 37 1 32145658 32145658 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 32145658 32145658 G T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known silent c.2652 p.I884 0.964 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 45 0 0 29 5 14.7059 BAI2 0 genome.wustl.edu 37 1 32206090 32206090 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 32206090 32206090 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1847 p.S616L 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 35 0 0 16 10 38.4615 SPOCD1 0 genome.wustl.edu 37 1 32280649 32280649 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 32280649 32280649 G A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known silent c.286 p.L96 0.002 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 110 0 0 36 22 37.931 KPNA6 0 genome.wustl.edu 37 1 32636370 32636370 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 32636370 32636370 G A SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.1501 p.D501N 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 157 0 0 84 37 30.5785 FAM167B 0 genome.wustl.edu 37 1 32713241 32713241 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 32713241 32713241 C T SNP FAM167B ENST00000373582 human ensembl 74_37 +1 known silent c.219 p.F73 0.177 NULL pfam_FAM167 - no_errors FAM167B HGNC ENSG00000183615 129 0 0 53 24 31.1688 ZBTB8A 0 genome.wustl.edu 37 1 33059046 33059046 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33059046 33059046 A G SNP ZBTB8A ENST00000373510 human ensembl 74_37 +1 known missense c.514 p.T172A 0.502 NULL pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 104 0 0 52 35 40.2299 ZBTB8A 0 genome.wustl.edu 37 1 33066006 33066006 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33066006 33066006 C T SNP ZBTB8A ENST00000373510 human ensembl 74_37 +1 known missense c.1312 p.P438S 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 101 0 0 56 14 20 ZBTB8OS 0 genome.wustl.edu 37 1 33087386 33087386 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33087386 33087386 T G SNP ZBTB8OS ENST00000373506 human ensembl 74_37 -1 known rna NULL NULL 0.094 - - - no_errors ZBTB8OS HGNC ENSG00000176261 17 0 0 15 10 40 PRDM16 0 genome.wustl.edu 37 1 3319387 3319387 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 3319387 3319387 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.709 p.E237K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 113 0 0 41 19 31.6667 YARS 0 genome.wustl.edu 37 1 33248064 33248064 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33248064 33248064 A C SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.983 p.F328C 1.000 NULL pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 157 0 0 76 37 32.7434 PRDM16 0 genome.wustl.edu 37 1 3328013 3328013 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 3328013 3328013 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1252 p.D418N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 91 0 0 45 28 38.3562 S100PBP 0 genome.wustl.edu 37 1 33321706 33321706 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33321706 33321706 C A SNP S100PBP ENST00000527692 human ensembl 74_37 +1 known rna NULL NULL 0.875 - - - no_errors S100PBP HGNC ENSG00000116497 21 0 0 13 6 31.5789 FNDC5 0 genome.wustl.edu 37 1 33330326 33330326 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33330326 33330326 G T SNP FNDC5 ENST00000609187 human ensembl 74_37 -1 known missense c.347 p.T116N 1.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC5 HGNC ENSG00000160097 105 0 0 38 21 35.5932 ZSCAN20 0 genome.wustl.edu 37 1 33960823 33960823 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 33960823 33960823 A C SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.2879 p.K960T 0.038 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 91 0 0 60 23 27.7108 CSMD2 0 genome.wustl.edu 37 1 34037145 34037145 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 34037145 34037145 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.7944 p.T2648 0.916 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 CSMD2 HGNC ENSG00000121904 81 0 0 49 24 32.8767 CSMD2 0 genome.wustl.edu 37 1 34066314 34066314 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 34066314 34066314 T C SNP CSMD2 ENST00000489419 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CSMD2 HGNC ENSG00000121904 16 0 0 9 5 35.7143 MEGF6 0 genome.wustl.edu 37 1 3428235 3428235 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 3428235 3428235 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.993 p.I331 0.081 NULL pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 98 0 0 44 19 30.1587 GJA4 0 genome.wustl.edu 37 1 35259868 35259868 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35259868 35259868 G A SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known silent c.54 p.S18 0.115 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 91 0 0 34 23 40.3509 DLGAP3 0 genome.wustl.edu 37 1 35370086 35370086 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35370086 35370086 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.899 p.S300N 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 153 0 0 71 34 32.381 ZMYM6 0 genome.wustl.edu 37 1 35452862 35452862 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35452862 35452862 A C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.3821 p.F1274C 0.079 superfamily_RNaseH-like_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 88 0 0 55 31 36.0465 ZMYM6 0 genome.wustl.edu 37 1 35480485 35480485 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35480485 35480485 C T SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.608 p.R203Q 1.000 smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 67 0 0 47 16 25.3968 ZMYM6 0 genome.wustl.edu 37 1 35484869 35484869 + Nonstop_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35484869 35484869 T G SNP ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel nonstop c.513 p.*171Y 0.000 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 41 0 0 22 13 37.1429 ZMYM1 0 genome.wustl.edu 37 1 35579062 35579062 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35579062 35579062 C T SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.1631 p.S544L 0.925 NULL pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 155 0 0 126 43 25.4438 ZMYM1 0 genome.wustl.edu 37 1 35580514 35580514 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35580514 35580514 G A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.3083 p.R1028K 0.997 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 151 0 0 81 38 31.9328 ZMYM4 0 genome.wustl.edu 37 1 35852607 35852607 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35852607 35852607 T G SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.1840 p.L614V 1.000 smart_TRASH_dom pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 42 0 0 25 9 26.4706 KIAA0319L 0 genome.wustl.edu 37 1 35925982 35925982 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 35925982 35925982 G C SNP KIAA0319L ENST00000325722 human ensembl 74_37 -1 known missense c.1351 p.L451V 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 138 0 0 81 37 31.3559 AGO4 0 genome.wustl.edu 37 1 36301555 36301555 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 36301555 36301555 A G SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.1685 p.K562R 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 125 0 0 87 35 28.6885 AGO3 0 genome.wustl.edu 37 1 36499775 36499775 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 36499775 36499775 C T SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known missense c.1592 p.A531V 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO3 HGNC ENSG00000126070 27 0 0 25 7 21.875 TRAPPC3 0 genome.wustl.edu 37 1 36602647 36602647 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 36602647 36602647 G A SNP TRAPPC3 ENST00000462715 human ensembl 74_37 -1 known rna NULL NULL 0.168 - - - no_errors TRAPPC3 HGNC ENSG00000054116 31 0 0 16 8 33.3333 THRAP3 0 genome.wustl.edu 37 1 36754728 36754728 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 36754728 36754728 G T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known nonsense c.1108 p.E370* 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 71 0 0 47 20 29.8507 MRPS15 0 genome.wustl.edu 37 1 36922119 36922119 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 36922119 36922119 A G SNP MRPS15 ENST00000477040 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MRPS15 HGNC ENSG00000116898 11 0 0 3 4 57.1429 MRPS15 0 genome.wustl.edu 37 1 36926331 36926331 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 36926331 36926331 A C SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known missense c.347 p.V116G 0.000 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 92 0 0 43 22 33.8462 GRIK3 0 genome.wustl.edu 37 1 37319226 37319226 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 37319226 37319226 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1202 p.G401D 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 76 0 0 34 22 39.2857 GRIK3 0 genome.wustl.edu 37 1 37337828 37337828 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 37337828 37337828 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.693 p.F231 0.993 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 66 0 0 26 13 33.3333 C1orf109 0 genome.wustl.edu 37 1 38148886 38148886 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 38148886 38148886 A G SNP C1orf109 ENST00000609516 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf109 HGNC ENSG00000116922 249 0 0 113 68 37.5691 CDCA8 0 genome.wustl.edu 37 1 38172656 38172656 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 38172656 38172656 C T SNP CDCA8 ENST00000327331 human ensembl 74_37 +1 known nonsense c.718 p.R240* 1.000 pfam_Cell_div_borealin pfam_Cell_div_borealin,pfam_Borealin-like_N - no_errors CDCA8 HGNC ENSG00000134690 211 1 0.471698 88 31 26.0504 RRAGC 0 genome.wustl.edu 37 1 39305238 39305238 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39305238 39305238 C T SNP RRAGC ENST00000373001 human ensembl 74_37 -1 known missense c.1187 p.R396Q 0.888 NULL pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGC HGNC ENSG00000116954 74 0 0 41 22 34.9206 GJA9 0 genome.wustl.edu 37 1 39341360 39341360 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39341360 39341360 A G SNP GJA9 ENST00000357771 human ensembl 74_37 -1 known silent c.411 p.C137 0.186 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 220 0 0 114 56 32.9412 ENSG00000228436 0 genome.wustl.edu 37 1 39341827 39341827 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39341827 39341827 T G SNP ENSG00000228436 ENST00000443161 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RP5-864K19.4 Clone_based_vega_gene ENSG00000228436 96 0 0 60 15 20 RHBDL2 0 genome.wustl.edu 37 1 39358897 39358897 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39358897 39358897 C A SNP RHBDL2 ENST00000372985 human ensembl 74_37 -1 known splice_site c.850-1 e6-1 1.000 - - - no_errors RHBDL2 HGNC ENSG00000158315 32 0 0 21 12 36.3636 MACF1 0 genome.wustl.edu 37 1 39749819 39749819 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39749819 39749819 T C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.1012 p.S338P 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 103 0 0 52 21 28.7671 MACF1 0 genome.wustl.edu 37 1 39757662 39757662 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39757662 39757662 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.1881 p.T627 0.896 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 88 0 0 42 20 32.2581 MACF1 0 genome.wustl.edu 37 1 39775246 39775246 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39775246 39775246 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.2809 p.E937K 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 102 0 0 66 34 34 MACF1 0 genome.wustl.edu 37 1 39785358 39785358 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39785358 39785358 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.3983 p.R1328K 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 82 0 0 46 22 32.3529 MACF1 0 genome.wustl.edu 37 1 39797149 39797149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39797149 39797149 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.5000 p.G1667D 0.000 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 153 0 0 88 41 31.7829 MACF1 0 genome.wustl.edu 37 1 39797279 39797279 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39797279 39797279 A C SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.5130 p.E1710D 0.433 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 155 0 0 109 46 29.6774 MACF1 0 genome.wustl.edu 37 1 39801293 39801293 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39801293 39801293 C A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.9144 p.S3048 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 103 0 0 59 28 32.1839 MACF1 0 genome.wustl.edu 37 1 39802891 39802891 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39802891 39802891 A G SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.10214 p.E3405G 1.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 184 0 0 119 50 29.5858 MACF1 0 genome.wustl.edu 37 1 39907927 39907927 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39907927 39907927 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.12706 p.R4236* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 90 0 0 44 22 33.3333 MACF1 0 genome.wustl.edu 37 1 39910339 39910339 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 39910339 39910339 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.13260 p.L4420 0.753 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 78 0 0 47 14 22.9508 NT5C1A 0 genome.wustl.edu 37 1 40124988 40124988 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40124988 40124988 A G SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known silent c.912 p.D304 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 201 0 0 69 35 33.6538 NT5C1A 0 genome.wustl.edu 37 1 40131295 40131295 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40131295 40131295 G A SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.331 p.R111W 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 127 0 0 35 29 45.3125 CAP1 0 genome.wustl.edu 37 1 40537207 40537207 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40537207 40537207 C T SNP CAP1 ENST00000461993 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors CAP1 HGNC ENSG00000131236 39 0 0 18 7 28 RLF 0 genome.wustl.edu 37 1 40701665 40701665 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40701665 40701665 G T SNP RLF ENST00000372771 human ensembl 74_37 +1 known nonsense c.1291 p.E431* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 128 0 0 83 46 35.6589 RLF 0 genome.wustl.edu 37 1 40705137 40705137 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40705137 40705137 T G SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.4763 p.L1588R 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 105 0 0 56 32 36.3636 ZMPSTE24 0 genome.wustl.edu 37 1 40758159 40758159 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40758159 40758159 T G SNP ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known missense c.1246 p.F416V 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 153 1 0.649351 82 47 36.4341 ZFP69B 0 genome.wustl.edu 37 1 40922718 40922718 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 40922718 40922718 G T SNP ZFP69B ENST00000484445 human ensembl 74_37 +1 putative nonsense c.229 p.E77* 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 67 0 0 42 8 16 CTPS1 0 genome.wustl.edu 37 1 41475885 41475885 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 41475885 41475885 G A SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known missense c.1744 p.E582K 0.961 NULL pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 88 0 0 51 23 31.0811 EDN2 0 genome.wustl.edu 37 1 41949772 41949772 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 41949772 41949772 T C SNP EDN2 ENST00000372587 human ensembl 74_37 -1 known missense c.167 p.D56G 1.000 pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN2 HGNC ENSG00000127129 54 0 0 18 9 33.3333 HIVEP3 0 genome.wustl.edu 37 1 42049380 42049380 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 42049380 42049380 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1089 p.K363N 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 167 0 0 58 31 34.8315 RIMKLA 0 genome.wustl.edu 37 1 42880351 42880351 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 42880351 42880351 C A SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known silent c.882 p.I294 1.000 pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 260 0 0 117 69 37.0968 ZMYND12 0 genome.wustl.edu 37 1 42914271 42914271 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 42914271 42914271 T G SNP ZMYND12 ENST00000372565 human ensembl 74_37 -1 known missense c.291 p.K97N 0.992 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 106 0 0 45 22 32.8358 CCDC30 0 genome.wustl.edu 37 1 43011180 43011180 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 43011180 43011180 G T SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.355 p.D119Y 1.000 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 91 0 0 56 26 31.7073 SLC2A1 0 genome.wustl.edu 37 1 43396474 43396474 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 43396474 43396474 C T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known silent c.339 p.S113 0.091 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 63 0 0 22 10 31.25 WDR65 0 genome.wustl.edu 37 1 43647389 43647389 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 43647389 43647389 T G SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known silent c.342 p.A114 0.993 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 156 0 0 109 35 24.3056 TIE1 0 genome.wustl.edu 37 1 43775110 43775110 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 43775110 43775110 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1240 p.P414S 1.000 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 92 0 0 29 21 42 SZT2 0 genome.wustl.edu 37 1 43908278 43908278 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 43908278 43908278 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known nonsense c.7969 p.R2657* 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 197 1 0.505051 85 52 37.9562 KDM4A 0 genome.wustl.edu 37 1 44156616 44156616 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 44156616 44156616 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.2138 p.S713L 0.677 smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 480 2 0.414938 255 103 28.7709 SLC6A9 0 genome.wustl.edu 37 1 44463386 44463386 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 44463386 44463386 C A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1952 p.S651I 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 255 0 0 99 52 34.4371 TMEM53 0 genome.wustl.edu 37 1 45120404 45120404 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 45120404 45120404 C T SNP TMEM53 ENST00000372237 human ensembl 74_37 -1 known missense c.661 p.E221K 0.653 pfam_DUF829_TMEM53 pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 166 0 0 73 43 37.069 PTCH2 0 genome.wustl.edu 37 1 45292046 45292046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 45292046 45292046 G A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2990 p.A997V 0.999 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 106 0 0 66 27 29.0323 PRDX1 0 genome.wustl.edu 37 1 45977024 45977024 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 45977024 45977024 C A SNP PRDX1 ENST00000262746 human ensembl 74_37 -1 known nonsense c.577 p.E193* 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC ENSG00000117450 384 0 0 234 91 28 NASP 0 genome.wustl.edu 37 1 46073549 46073549 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 46073549 46073549 A C SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.972 p.E324D 0.143 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 79 0 0 64 21 24.7059 MAST2 0 genome.wustl.edu 37 1 46496777 46496777 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 46496777 46496777 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2807 p.A936V 0.994 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 58 0 0 22 13 37.1429 PIK3R3 0 genome.wustl.edu 37 1 46521530 46521530 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 46521530 46521530 T G SNP PIK3R3 ENST00000540385 human ensembl 74_37 -1 known missense c.1016 p.K339T 1.000 prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 114 0 0 69 44 38.9381 PIK3R3 0 genome.wustl.edu 37 1 46531771 46531771 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 46531771 46531771 A G SNP PIK3R3 ENST00000540385 human ensembl 74_37 -1 known silent c.714 p.S238 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 91 0 0 80 36 31.0345 MKNK1 0 genome.wustl.edu 37 1 47027233 47027233 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47027233 47027233 C A SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known missense c.1045 p.D349Y 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 MKNK1 HGNC ENSG00000079277 121 0 0 45 21 31.8182 CYP4B1 0 genome.wustl.edu 37 1 47283819 47283819 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47283819 47283819 G A SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.1289 p.R430H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 152 0 0 77 30 28.0374 CYP4B1 0 genome.wustl.edu 37 1 47284422 47284422 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47284422 47284422 T C SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.1475 p.V492A 0.994 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 166 0 0 82 46 35.9375 CYP4Z1 0 genome.wustl.edu 37 1 47564769 47564769 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47564769 47564769 G A SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.880 p.E294K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 163 0 0 84 51 37.7778 CYP4Z1 0 genome.wustl.edu 37 1 47583620 47583620 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47583620 47583620 C T SNP CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors CYP4Z1 HGNC ENSG00000186160 39 0 0 25 5 16.6667 STIL 0 genome.wustl.edu 37 1 47735473 47735473 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47735473 47735473 C T SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.2449 p.D817N 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 145 0 0 88 28 24.1379 STIL 0 genome.wustl.edu 37 1 47746069 47746069 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47746069 47746069 T C SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.2061 p.R687 0.053 NULL NULL - no_errors STIL HGNC ENSG00000123473 218 0 0 102 65 38.9222 STIL 0 genome.wustl.edu 37 1 47767944 47767944 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 47767944 47767944 G A SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.227 p.S76L 0.001 NULL NULL - no_errors STIL HGNC ENSG00000123473 74 0 0 41 29 41.4286 SPATA6 0 genome.wustl.edu 37 1 48821347 48821347 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 48821347 48821347 A C SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known missense c.1189 p.L397V 0.991 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 67 0 0 46 20 30.303 SPATA6 0 genome.wustl.edu 37 1 48864948 48864948 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 48864948 48864948 G T SNP SPATA6 ENST00000463938 human ensembl 74_37 -1 known rna NULL NULL 0.362 - - - no_errors SPATA6 HGNC ENSG00000132122 25 0 0 17 15 46.875 AGBL4 0 genome.wustl.edu 37 1 49100248 49100248 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 49100248 49100248 G A SNP AGBL4 ENST00000371839 human ensembl 74_37 -1 known missense c.868 p.R290C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 19 0 0 16 6 27.2727 EPS15 0 genome.wustl.edu 37 1 51826915 51826915 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 51826915 51826915 A G SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known silent c.2472 p.C824 0.192 NULL smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 112 0 0 73 43 37.069 OSBPL9 0 genome.wustl.edu 37 1 52253122 52253122 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52253122 52253122 C T SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known nonsense c.2152 p.R718* 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 168 0 0 97 46 32.1678 NRD1 0 genome.wustl.edu 37 1 52263977 52263977 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52263977 52263977 C A SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known nonsense c.2752 p.E918* 0.999 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 108 0 0 57 24 29.6296 NRD1 0 genome.wustl.edu 37 1 52272492 52272492 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52272492 52272492 T G SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.2288 p.K763T 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 135 0 0 94 55 36.9128 KTI12 0 genome.wustl.edu 37 1 52498747 52498747 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52498747 52498747 T G SNP KTI12 ENST00000371614 human ensembl 74_37 -1 known missense c.687 p.L229F 0.994 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12,superfamily_P-loop_NTPase - no_errors KTI12 HGNC ENSG00000198841 147 0 0 86 28 24.5614 ZFYVE9 0 genome.wustl.edu 37 1 52703746 52703746 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52703746 52703746 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.657 p.P219 0.042 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 157 0 0 88 43 32.8244 CC2D1B 0 genome.wustl.edu 37 1 52822738 52822738 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52822738 52822738 G A SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known nonsense c.1831 p.R611* 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1B HGNC ENSG00000154222 27 0 0 12 7 36.8421 ZCCHC11 0 genome.wustl.edu 37 1 52981601 52981601 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 52981601 52981601 C A SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known nonsense c.844 p.E282* 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 135 0 0 86 41 32.2835 SCP2 0 genome.wustl.edu 37 1 53443987 53443987 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 53443987 53443987 A C SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known missense c.773 p.E258A 1.000 NULL pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 75 0 0 42 21 33.3333 GLIS1 0 genome.wustl.edu 37 1 54060472 54060472 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 54060472 54060472 G A SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.104 p.A35V 0.221 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 29 0 0 13 7 35 MROH7-TTC4 0 genome.wustl.edu 37 1 55167779 55167779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 55167779 55167779 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.3302 p.R1101H 0.973 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 34 0 0 19 3 13.6364 USP24 0 genome.wustl.edu 37 1 55624658 55624658 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 55624658 55624658 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.784 p.R262C 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 20 0 0 8 9 52.9412 PRKAA2 0 genome.wustl.edu 37 1 57169927 57169927 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 57169927 57169927 C T SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1072 p.H358Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 129 0 0 56 38 40.4255 C1orf168 0 genome.wustl.edu 37 1 57192242 57192242 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 57192242 57192242 A G SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.1808 p.L603P 0.097 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 92 0 0 64 28 30.4348 DAB1 0 genome.wustl.edu 37 1 57481012 57481012 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 57481012 57481012 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.1087 p.A363T 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 119 0 0 55 20 26.6667 MYSM1 0 genome.wustl.edu 37 1 59125684 59125684 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 59125684 59125684 C A SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known missense c.2472 p.K824N 0.000 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 48 0 0 45 16 26.2295 MYSM1 0 genome.wustl.edu 37 1 59154730 59154730 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 59154730 59154730 C A SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known nonsense c.379 p.E127* 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 51 0 0 27 12 30.7692 INADL 0 genome.wustl.edu 37 1 62367109 62367109 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 62367109 62367109 A C SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.3359 p.K1120T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 98 0 0 46 27 36.9863 RPL22 0 genome.wustl.edu 37 1 6246758 6246758 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 6246758 6246758 C T SNP RPL22 ENST00000234875 human ensembl 74_37 -1 known missense c.361 p.E121K 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 44 0 0 20 14 41.1765 INADL 0 genome.wustl.edu 37 1 62586964 62586964 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 62586964 62586964 T G SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.5002 p.S1668A 0.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 87 0 0 50 23 31.5068 INADL 0 genome.wustl.edu 37 1 62593793 62593793 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 62593793 62593793 T G SNP INADL ENST00000472512 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors INADL HGNC ENSG00000132849 59 0 0 38 25 39.6825 RNF207 0 genome.wustl.edu 37 1 6272055 6272055 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 6272055 6272055 C T SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel missense c.1238 p.A413V 0.995 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 17 0 0 9 2 18.1818 USP1 0 genome.wustl.edu 37 1 62910637 62910637 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 62910637 62910637 G T SNP USP1 ENST00000339950 human ensembl 74_37 +1 known missense c.786 p.E262D 0.109 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 83 0 0 65 24 26.9663 USP1 0 genome.wustl.edu 37 1 62910879 62910879 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 62910879 62910879 A C SNP USP1 ENST00000339950 human ensembl 74_37 +1 known missense c.1028 p.K343T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 71 0 0 42 27 39.1304 DOCK7 0 genome.wustl.edu 37 1 62979530 62979530 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 62979530 62979530 G A SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known nonsense c.3976 p.R1326* 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 151 0 0 109 47 30.1282 DOCK7 0 genome.wustl.edu 37 1 63024812 63024812 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 63024812 63024812 C T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.2279 p.R760Q 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 64 0 0 41 10 19.6078 ATG4C 0 genome.wustl.edu 37 1 63269479 63269479 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 63269479 63269479 G T SNP ATG4C ENST00000317868 human ensembl 74_37 +1 known nonsense c.22 p.E8* 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 71 0 0 39 28 41.791 ATG4C 0 genome.wustl.edu 37 1 63282366 63282366 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 63282366 63282366 A C SNP ATG4C ENST00000317868 human ensembl 74_37 +1 known missense c.281 p.E94A 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 54 0 0 51 22 30.137 ALG6 0 genome.wustl.edu 37 1 63872011 63872011 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 63872011 63872011 T C SNP ALG6 ENST00000371108 human ensembl 74_37 +1 known missense c.370 p.Y124H 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 85 0 0 68 27 28.4211 CACHD1 0 genome.wustl.edu 37 1 65016280 65016280 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 65016280 65016280 A G SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.202 p.I68V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 50 0 0 29 17 36.9565 JAK1 0 genome.wustl.edu 37 1 65305188 65305188 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 65305188 65305188 G A SNP JAK1 ENST00000481702 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors JAK1 HGNC ENSG00000162434 68 0 0 30 15 33.3333 AK4 0 genome.wustl.edu 37 1 65691785 65691785 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 65691785 65691785 G A SNP AK4 ENST00000327299 human ensembl 74_37 +1 known silent c.597 p.T199 0.856 superfamily_P-loop_NTPase,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK4 HGNC ENSG00000162433 47 0 0 24 10 29.4118 NOL9 0 genome.wustl.edu 37 1 6586025 6586025 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 6586025 6586025 A G SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known silent c.1998 p.D666 0.999 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 165 0 0 90 25 21.7391 DNAJC6 0 genome.wustl.edu 37 1 65878696 65878696 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 65878696 65878696 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known silent c.2901 p.K967 1.000 superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 110 0 0 63 59 48.3607 LEPR 0 genome.wustl.edu 37 1 66081710 66081710 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 66081710 66081710 C A SNP LEPR ENST00000349533 human ensembl 74_37 +1 known nonsense c.2015 p.S672* 0.995 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 89 0 0 55 26 32.0988 LEPR 0 genome.wustl.edu 37 1 66081833 66081833 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 66081833 66081833 C T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2138 p.T713M 0.282 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 95 0 0 54 22 28.9474 LEPR 0 genome.wustl.edu 37 1 66101895 66101895 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 66101895 66101895 T G SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2695 p.F899V 1.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 203 0 0 122 66 35.1064 TAS1R1 0 genome.wustl.edu 37 1 6634952 6634952 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 6634952 6634952 G T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known nonsense c.760 p.E254* 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 120 0 0 36 37 50.6849 ZBTB48 0 genome.wustl.edu 37 1 6647651 6647651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 6647651 6647651 G A SNP ZBTB48 ENST00000466813 human ensembl 74_37 +1 known missense c.113 p.R38Q 0.002 NULL NULL - no_errors ZBTB48 HGNC ENSG00000204859 106 0 0 59 15 20.2703 PHF13 0 genome.wustl.edu 37 1 6676920 6676920 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 6676920 6676920 T C SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known splice_site c.141+2 e2+2 1.000 - - - no_errors PHF13 HGNC ENSG00000116273 74 0 0 40 10 20 TCTEX1D1 0 genome.wustl.edu 37 1 67243091 67243091 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67243091 67243091 C A SNP TCTEX1D1 ENST00000282670 human ensembl 74_37 +1 known missense c.494 p.S165Y 0.997 pfam_Tctex pfam_Tctex - no_errors TCTEX1D1 HGNC ENSG00000152760 124 0 0 76 35 31.5315 WDR78 0 genome.wustl.edu 37 1 67292585 67292585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67292585 67292585 C T SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.2257 p.V753I 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,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 159 0 0 97 58 37.4194 WDR78 0 genome.wustl.edu 37 1 67358960 67358960 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67358960 67358960 C G SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.482 p.S161T 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 139 0 0 74 45 37.8151 C1orf141 0 genome.wustl.edu 37 1 67558934 67558934 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67558934 67558934 C A SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known missense c.957 p.Q319H 0.088 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 133 0 0 83 32 27.8261 C1orf141 0 genome.wustl.edu 37 1 67559156 67559156 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67559156 67559156 G A SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known silent c.735 p.F245 0.336 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 38 0 0 24 14 36.8421 C1orf141 0 genome.wustl.edu 37 1 67561067 67561067 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67561067 67561067 C A SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known nonsense c.454 p.E152* 0.679 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 22 0 0 8 6 42.8571 IL23R 0 genome.wustl.edu 37 1 67635287 67635287 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67635287 67635287 G A SNP IL23R ENST00000347310 human ensembl 74_37 +1 known silent c.333 p.E111 0.997 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 109 0 0 70 35 33.3333 IL12RB2 0 genome.wustl.edu 37 1 67786106 67786106 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67786106 67786106 C T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known silent c.55 p.L19 0.037 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 108 0 0 50 36 41.8605 IL12RB2 0 genome.wustl.edu 37 1 67804371 67804371 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67804371 67804371 T G SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1023 p.I341M 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 86 0 0 50 21 29.5775 IL12RB2 0 genome.wustl.edu 37 1 67816583 67816583 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67816583 67816583 A C SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1069 p.I357L 0.989 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 96 0 0 56 27 32.5301 IL12RB2 0 genome.wustl.edu 37 1 67852280 67852280 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67852280 67852280 C A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1874 p.A625E 0.000 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 212 0 0 119 59 33.1461 SERBP1 0 genome.wustl.edu 37 1 67880971 67880971 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67880971 67880971 C A SNP SERBP1 ENST00000370995 human ensembl 74_37 -1 known missense c.1048 p.D350Y 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 153 0 0 91 47 34.058 SERBP1 0 genome.wustl.edu 37 1 67885969 67885969 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 67885969 67885969 C A SNP SERBP1 ENST00000462814 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SERBP1 HGNC ENSG00000142864 35 0 0 16 11 40.7407 LRRC7 0 genome.wustl.edu 37 1 70502292 70502292 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 70502292 70502292 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.2159 p.S720F 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 161 0 0 76 48 38.7097 LRRC7 0 genome.wustl.edu 37 1 70504011 70504011 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 70504011 70504011 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.2390 p.S797L 0.980 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 195 0 0 87 58 40 ANKRD13C 0 genome.wustl.edu 37 1 70742520 70742520 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 70742520 70742520 C T SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known missense c.1223 p.R408Q 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 49 0 0 26 18 40.9091 PTGER3 0 genome.wustl.edu 37 1 71513120 71513120 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 71513120 71513120 G A SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known silent c.141 p.C47 1.000 prints_Prostglndn_EP3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 28 0 0 13 4 23.5294 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74901807 74901807 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 74901807 74901807 G T SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2158 p.D720Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 109 0 0 77 29 27.3585 C1orf173 0 genome.wustl.edu 37 1 75038351 75038351 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 75038351 75038351 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3043 p.E1015K 0.037 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 176 0 0 103 46 30.8725 C1orf173 0 genome.wustl.edu 37 1 75039081 75039081 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 75039081 75039081 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2313 p.K771N 0.008 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 125 1 0.793651 81 36 30.7692 C1orf173 0 genome.wustl.edu 37 1 75055504 75055504 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 75055504 75055504 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1987 p.E663K 0.002 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 154 0 0 91 43 32.0896 C1orf173 0 genome.wustl.edu 37 1 75097446 75097446 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 75097446 75097446 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.770 p.R257I 0.984 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 121 0 0 58 30 34.0909 C1orf173 0 genome.wustl.edu 37 1 75097470 75097470 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 75097470 75097470 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.746 p.R249I 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 129 0 0 55 26 32.0988 TYW3 0 genome.wustl.edu 37 1 75229792 75229792 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 75229792 75229792 T G SNP TYW3 ENST00000370867 human ensembl 74_37 +1 known missense c.775 p.Y259D 0.410 NULL pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising - no_errors TYW3 HGNC ENSG00000162623 91 0 0 54 27 33.3333 ACADM 0 genome.wustl.edu 37 1 76199306 76199306 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 76199306 76199306 C A SNP ACADM ENST00000420607 human ensembl 74_37 +1 known missense c.392 p.S131Y 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 156 0 0 97 37 27.6119 SNORD45B 0 genome.wustl.edu 37 1 76255178 76255178 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 76255178 76255178 G A SNP SNORD45B ENST00000364617 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD45B HGNC ENSG00000201487 53 0 0 29 11 27.5 MSH4 0 genome.wustl.edu 37 1 76276403 76276403 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 76276403 76276403 T G SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known missense c.610 p.L204V 1.000 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 39 0 0 35 15 30 ST6GALNAC3 0 genome.wustl.edu 37 1 76878054 76878054 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 76878054 76878054 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known missense c.575 p.R192H 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 90 0 0 53 22 29.3333 CAMTA1 0 genome.wustl.edu 37 1 7725121 7725121 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 7725121 7725121 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.2514 p.G838 0.988 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 196 0 0 71 35 33.0189 ZZZ3 0 genome.wustl.edu 37 1 78041751 78041751 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 78041751 78041751 A G SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known splice_site c.2331+2 e8+2 1.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 115 0 0 88 20 18.5185 CAMTA1 0 genome.wustl.edu 37 1 7806101 7806101 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 7806101 7806101 G T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known nonsense c.4567 p.E1523* 1.000 superfamily_P-loop_NTPase pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 119 0 0 66 30 31.25 ZZZ3 0 genome.wustl.edu 37 1 78098028 78098028 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 78098028 78098028 C T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.1012 p.E338K 0.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 209 0 0 108 56 34.1463 USP33 0 genome.wustl.edu 37 1 78180466 78180466 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 78180466 78180466 T G SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.2141 p.K714T 1.000 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 89 0 0 59 28 32.1839 USP33 0 genome.wustl.edu 37 1 78195593 78195593 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 78195593 78195593 A G SNP USP33 ENST00000357428 human ensembl 74_37 -1 known silent c.762 p.F254 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 93 0 0 73 33 31.1321 FAM73A 0 genome.wustl.edu 37 1 78325057 78325057 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 78325057 78325057 C T SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known nonsense c.1174 p.R392* 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 73 0 0 62 20 24.3902 NEXN 0 genome.wustl.edu 37 1 78408391 78408391 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 78408391 78408391 A C SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.1905 p.E635D 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 100 0 0 68 33 32.6733 PER3 0 genome.wustl.edu 37 1 7863754 7863754 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 7863754 7863754 T C SNP PER3 ENST00000361923 human ensembl 74_37 +1 known silent c.979 p.L327 1.000 pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 36 0 0 23 8 25.8065 PER3 0 genome.wustl.edu 37 1 7863904 7863904 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 7863904 7863904 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known nonsense c.1129 p.R377* 0.997 superfamily_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 83 0 0 43 20 31.746 UTS2 0 genome.wustl.edu 37 1 7907902 7907902 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 7907902 7907902 C A SNP UTS2 ENST00000054668 human ensembl 74_37 -1 known missense c.344 p.S115I 0.349 NULL pfam_Urotensin_II - no_errors UTS2 HGNC ENSG00000049247 137 0 0 65 49 42.9825 IFI44 0 genome.wustl.edu 37 1 79125147 79125147 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 79125147 79125147 C T SNP IFI44 ENST00000370747 human ensembl 74_37 +1 known nonsense c.991 p.R331* 0.216 superfamily_P-loop_NTPase pfam_TLDc,superfamily_P-loop_NTPase - no_errors IFI44 HGNC ENSG00000137965 63 0 0 32 17 34.6939 ELTD1 0 genome.wustl.edu 37 1 79383340 79383340 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 79383340 79383340 T C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.1728 p.G576 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 27 0 0 24 7 22.5806 ELTD1 0 genome.wustl.edu 37 1 79392576 79392576 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 79392576 79392576 G A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known nonsense c.1078 p.R360* 0.028 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 42 0 0 38 10 20.8333 ELTD1 0 genome.wustl.edu 37 1 79392761 79392761 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 79392761 79392761 G A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.893 p.A298V 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 62 0 0 41 15 26.7857 TNFRSF9 0 genome.wustl.edu 37 1 7998864 7998864 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 7998864 7998864 T G SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.125 p.N42T 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 135 0 0 69 31 31 LPHN2 0 genome.wustl.edu 37 1 82302724 82302724 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 82302724 82302724 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.55 p.F19V 1.000 NULL 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 57 0 0 36 21 36.8421 LPHN2 0 genome.wustl.edu 37 1 82409063 82409063 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 82409063 82409063 G T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known nonsense c.808 p.E270* 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 142 0 0 76 52 40.625 SLC45A1 0 genome.wustl.edu 37 1 8399674 8399674 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 8399674 8399674 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.1998 p.S666 0.002 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 265 2 0.749064 152 56 26.9231 TTLL7 0 genome.wustl.edu 37 1 84386821 84386821 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 84386821 84386821 C T SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1313 p.R438Q 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 64 0 0 53 29 35.3659 TTLL7 0 genome.wustl.edu 37 1 84399362 84399362 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 84399362 84399362 C T SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.976 p.E326K 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 181 0 0 98 29 22.8346 SSX2IP 0 genome.wustl.edu 37 1 85124050 85124050 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85124050 85124050 T G SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.1029 p.R343S 0.509 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 85 0 0 57 20 25.974 LPAR3 0 genome.wustl.edu 37 1 85279676 85279676 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85279676 85279676 C A SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known missense c.915 p.K305N 1.000 prints_LPA_rcpt,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 131 0 0 71 26 26.8041 MCOLN2 0 genome.wustl.edu 37 1 85403733 85403733 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85403733 85403733 A C SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.1143 p.F381L 0.887 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 68 0 0 59 18 23.3766 MCOLN2 0 genome.wustl.edu 37 1 85424296 85424296 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85424296 85424296 A C SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known nonsense c.327 p.Y109* 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 97 0 0 69 23 25 MCOLN3 0 genome.wustl.edu 37 1 85499799 85499799 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85499799 85499799 C T SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known missense c.532 p.D178N 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 125 0 0 64 36 36 MCOLN3 0 genome.wustl.edu 37 1 85511015 85511015 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85511015 85511015 C T SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known missense c.29 p.S10N 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 68 0 0 34 17 33.3333 WDR63 0 genome.wustl.edu 37 1 85583527 85583527 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85583527 85583527 C A SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.1902 p.F634L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 126 0 0 95 43 31.1594 BCL10 0 genome.wustl.edu 37 1 85736475 85736475 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85736475 85736475 G A SNP BCL10 ENST00000370580 human ensembl 74_37 -1 known nonsense c.172 p.R58* 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 113 0 0 60 44 42.3077 DDAH1 0 genome.wustl.edu 37 1 85817243 85817243 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 85817243 85817243 G A SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known silent c.423 p.G141 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 92 0 0 55 33 37.5 CYR61 0 genome.wustl.edu 37 1 86047711 86047711 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 86047711 86047711 C T SNP CYR61 ENST00000451137 human ensembl 74_37 +1 known silent c.378 p.G126 0.651 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_Cys_knot,pfam_IGFBP-like,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 CYR61 HGNC ENSG00000142871 188 0 0 108 42 28 CLCA1 0 genome.wustl.edu 37 1 86947924 86947924 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 86947924 86947924 G T SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.594 p.K198N 0.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 51 0 0 37 15 28.8462 CLCA1 0 genome.wustl.edu 37 1 86952219 86952219 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 86952219 86952219 G A SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.965 p.R322H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 100 0 0 50 24 32.4324 CLCA1 0 genome.wustl.edu 37 1 86952423 86952423 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 86952423 86952423 G A SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.1169 p.R390Q 0.004 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 144 0 0 71 28 28.2828 CLCA1 0 genome.wustl.edu 37 1 86956953 86956953 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 86956953 86956953 T G SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.1363 p.L455V 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 87 0 0 46 21 31.3433 CLCA1 0 genome.wustl.edu 37 1 86965337 86965337 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 86965337 86965337 C A SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.2354 p.A785D 1.000 superfamily_Fibronectin_type3,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 62 0 0 36 21 36.8421 CLCA3P 0 genome.wustl.edu 37 1 87100011 87100011 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 87100011 87100011 C T SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLCA3P HGNC ENSG00000153923 109 1 0.909091 80 24 23.0769 HS2ST1 0 genome.wustl.edu 37 1 87563550 87563550 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 87563550 87563550 C T SNP HS2ST1 ENST00000370550 human ensembl 74_37 +1 known silent c.618 p.G206 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS2ST1 HGNC ENSG00000153936 116 0 0 61 23 27.381 ENSG00000267561 0 genome.wustl.edu 37 1 87633842 87633842 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 87633842 87633842 G A SNP ENSG00000267561 ENST00000370548 human ensembl 74_37 +1 putative missense c.895 p.G299R 0.033 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors RP5-1052I5.2 Clone_based_vega_gene ENSG00000267561 9 0 0 9 2 18.1818 PKN2 0 genome.wustl.edu 37 1 89236102 89236102 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 89236102 89236102 G A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.572 p.R191Q 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd 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 115 0 0 51 36 41.3793 PKN2 0 genome.wustl.edu 37 1 89250336 89250336 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 89250336 89250336 C T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.1000 p.R334C 1.000 superfamily_C2_dom,smart_C2_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 75 0 0 42 27 39.1304 PKN2 0 genome.wustl.edu 37 1 89294214 89294214 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 89294214 89294214 C A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.2470 p.L824I 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 63 0 0 46 24 34.2857 RBMXL1 0 genome.wustl.edu 37 1 89449292 89449292 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 89449292 89449292 G T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known nonsense c.218 p.S73* 0.983 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 RBMXL1 HGNC ENSG00000213516 337 3 0.882353 220 33 13.0435 GBP5 0 genome.wustl.edu 37 1 89733110 89733110 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 89733110 89733110 C T SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.418 p.D140N 0.256 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 68 0 0 40 19 32.2034 KLHL17 0 genome.wustl.edu 37 1 899373 899373 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 899373 899373 C T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known nonsense c.1429 p.R477* 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 217 0 0 85 47 35.6061 LRRC8C 0 genome.wustl.edu 37 1 90179562 90179562 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 90179562 90179562 C A SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known missense c.1433 p.S478Y 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 111 0 0 70 38 35.1852 ZNF326 0 genome.wustl.edu 37 1 90478702 90478702 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 90478702 90478702 A C SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known missense c.832 p.N278H 0.999 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 31 0 0 24 22 47.8261 SLC2A7 0 genome.wustl.edu 37 1 9079302 9079302 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 9079302 9079302 G A SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known silent c.402 p.I134 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 71 0 0 42 14 25 BARHL2 0 genome.wustl.edu 37 1 91178030 91178030 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 91178030 91178030 C T SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.1003 p.A335T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 45 0 0 19 8 29.6296 ZNF644 0 genome.wustl.edu 37 1 91404174 91404174 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 91404174 91404174 T G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.2737 p.N913H 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 84 0 0 68 23 25.2747 ZNF644 0 genome.wustl.edu 37 1 91404625 91404625 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 91404625 91404625 T G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.2286 p.K762N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 100 0 0 91 43 32.0896 ZNF644 0 genome.wustl.edu 37 1 91405928 91405928 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 91405928 91405928 T A SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.983 p.Q328L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 108 0 0 76 31 28.972 CDC7 0 genome.wustl.edu 37 1 91985809 91985809 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 91985809 91985809 G T SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known nonsense c.1303 p.E435* 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 CDC7 HGNC ENSG00000097046 72 0 0 37 16 30.1887 BRDT 0 genome.wustl.edu 37 1 92442839 92442839 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 92442839 92442839 G T SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.858 p.K286N 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 98 0 0 78 38 32.7586 BRDT 0 genome.wustl.edu 37 1 92469985 92469985 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 92469985 92469985 G A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.2403 p.K801 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 97 0 0 74 35 32.1101 EPHX4 0 genome.wustl.edu 37 1 92515886 92515886 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 92515886 92515886 G A SNP EPHX4 ENST00000370383 human ensembl 74_37 +1 known missense c.617 p.R206Q 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 84 0 0 63 25 28.4091 RPAP2 0 genome.wustl.edu 37 1 92846313 92846313 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 92846313 92846313 C A SNP RPAP2 ENST00000610020 human ensembl 74_37 +1 known missense c.1721 p.S574Y 0.871 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 131 0 0 94 52 35.6164 H6PD 0 genome.wustl.edu 37 1 9305498 9305498 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 9305498 9305498 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.505 p.R169W 1.000 pfam_G6P_DH_NAD-bd,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 193 1 0.515464 105 26 19.8473 EVI5 0 genome.wustl.edu 37 1 93073271 93073271 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 93073271 93073271 C A SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known missense c.1826 p.S609I 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 34 0 0 24 6 20 CCDC18 0 genome.wustl.edu 37 1 93672695 93672695 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 93672695 93672695 G T SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known nonsense c.1303 p.E435* 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 49 0 0 30 13 30.2326 CCDC18 0 genome.wustl.edu 37 1 93712497 93712497 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 93712497 93712497 G T SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known nonsense c.3538 p.E1180* 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 47 0 0 42 20 32.2581 BCAR3 0 genome.wustl.edu 37 1 94107889 94107889 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94107889 94107889 G T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known missense c.328 p.L110I 0.107 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 107 0 0 74 30 28.8462 ABCA4 0 genome.wustl.edu 37 1 94463453 94463453 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94463453 94463453 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.6693 p.I2231 0.661 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 65 0 0 34 14 29.1667 ABCA4 0 genome.wustl.edu 37 1 94526167 94526167 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94526167 94526167 T C SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.2086 p.I696V 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 123 0 0 60 31 34.0659 ABCA4 0 genome.wustl.edu 37 1 94528764 94528764 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94528764 94528764 T C SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.1664 p.D555G 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 246 0 0 120 62 34.0659 ARHGAP29 0 genome.wustl.edu 37 1 94640272 94640272 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94640272 94640272 T C SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.2939 p.E980G 0.150 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 156 0 0 111 39 26 ARHGAP29 0 genome.wustl.edu 37 1 94650597 94650597 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94650597 94650597 C T SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.1940 p.R647Q 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 44 0 0 22 21 48.8372 ARHGAP29 0 genome.wustl.edu 37 1 94651015 94651015 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 94651015 94651015 A G SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known silent c.1803 p.F601 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 61 0 0 41 31 43.0556 DPYD 0 genome.wustl.edu 37 1 97548022 97548022 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 97548022 97548022 A G SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2771 p.V924A 1.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 161 0 0 105 41 28.0822 DPYD 0 genome.wustl.edu 37 1 97770839 97770839 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 97770839 97770839 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known nonsense c.2275 p.R759* 1.000 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 136 0 0 82 35 29.9145 PIK3CD 0 genome.wustl.edu 37 1 9780235 9780235 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 9780235 9780235 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1300 p.A434T 0.988 superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 127 0 0 54 17 23.9437 DPYD 0 genome.wustl.edu 37 1 97839170 97839170 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 97839170 97839170 A C SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2005 p.L669V 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 77 0 0 58 20 25.641 AGRN 0 genome.wustl.edu 37 1 981387 981387 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 981387 981387 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.2724 p.F908 0.943 smart_FacI_MAC,smart_Fol_N,smart_EG-like_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 118 0 0 44 26 37.1429 LPPR4 0 genome.wustl.edu 37 1 99772241 99772241 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 99772241 99772241 G A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1967 p.S656N 0.932 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 56 0 0 42 11 20.7547 HPS1 0 genome.wustl.edu 37 10 100190928 100190928 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 100190928 100190928 A C SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.628 p.F210V 1.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 53 0 0 25 6 19.3548 GOT1 0 genome.wustl.edu 37 10 101163418 101163418 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 101163418 101163418 T G SNP GOT1 ENST00000489349 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOT1 HGNC ENSG00000120053 155 0 0 80 36 31.0345 SLC25A28 0 genome.wustl.edu 37 10 101373638 101373638 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 101373638 101373638 C T SNP SLC25A28 ENST00000370495 human ensembl 74_37 -1 known missense c.335 p.R112H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A28 HGNC ENSG00000155287 57 0 0 24 8 25 COX15 0 genome.wustl.edu 37 10 101476256 101476256 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 101476256 101476256 T G SNP COX15 ENST00000497381 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors COX15 HGNC ENSG00000014919 69 0 0 33 18 35.2941 DNMBP 0 genome.wustl.edu 37 10 101716155 101716155 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 101716155 101716155 G T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.1076 p.S359Y 0.002 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 129 0 0 54 35 39.3258 FAM178A 0 genome.wustl.edu 37 10 102676415 102676415 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 102676415 102676415 G A SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known silent c.273 p.R91 0.999 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 71 0 0 47 14 22.9508 FAM178A 0 genome.wustl.edu 37 10 102698458 102698458 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 102698458 102698458 G T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.2619 p.E873D 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 152 0 0 120 44 26.8293 KAZALD1 0 genome.wustl.edu 37 10 102824352 102824352 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 102824352 102824352 G A SNP KAZALD1 ENST00000370200 human ensembl 74_37 +1 known missense c.767 p.R256H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors KAZALD1 HGNC ENSG00000107821 93 0 0 41 25 37.8788 BTRC 0 genome.wustl.edu 37 10 103294454 103294454 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 103294454 103294454 G A SNP BTRC ENST00000370187 human ensembl 74_37 +1 known silent c.1134 p.T378 0.002 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 221 0 0 165 14 7.82123 POLL 0 genome.wustl.edu 37 10 103340084 103340084 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 103340084 103340084 G A SNP POLL ENST00000299206 human ensembl 74_37 -1 known silent c.1284 p.V428 0.706 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X_beta-like,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 148 0 0 72 49 40.4959 C10orf76 0 genome.wustl.edu 37 10 103789309 103789309 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 103789309 103789309 C T SNP C10orf76 ENST00000311122 human ensembl 74_37 -1 known missense c.500 p.R167K 0.006 NULL NULL - no_errors C10orf76 HGNC ENSG00000120029 46 0 0 28 11 28.2051 HPS6 0 genome.wustl.edu 37 10 103826086 103826086 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 103826086 103826086 C T SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known silent c.855 p.F285 0.000 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 143 0 0 51 34 40 PSD 0 genome.wustl.edu 37 10 104164427 104164427 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 104164427 104164427 G T SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.2613 p.F871L 1.000 smart_Pleckstrin_homology 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 PSD HGNC ENSG00000059915 264 0 0 132 61 31.6062 SUFU 0 genome.wustl.edu 37 10 104268934 104268934 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 104268934 104268934 G T SNP SUFU ENST00000369902 human ensembl 74_37 +1 known missense c.191 p.G64V 1.000 pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 153 0 0 68 42 38.1818 WBP1L 0 genome.wustl.edu 37 10 104569765 104569765 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 104569765 104569765 C T SNP WBP1L ENST00000448841 human ensembl 74_37 +1 known silent c.309 p.I103 0.667 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 195 0 0 119 40 25.1572 CYP17A1 0 genome.wustl.edu 37 10 104594476 104594476 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 104594476 104594476 G T SNP CYP17A1 ENST00000489268 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CYP17A1 HGNC ENSG00000148795 63 0 0 15 15 50 NT5C2 0 genome.wustl.edu 37 10 104852955 104852955 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 104852955 104852955 C T SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.1100 p.R367Q 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 126 0 0 86 32 27.1186 NT5C2 0 genome.wustl.edu 37 10 104854130 104854130 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 104854130 104854130 C T SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.896 p.G299D 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 63 0 0 30 7 18.9189 PDCD11 0 genome.wustl.edu 37 10 105172967 105172967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105172967 105172967 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1073 p.R358Q 0.063 superfamily_NA-bd_OB-fold pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 147 0 0 71 30 29.703 PDCD11 0 genome.wustl.edu 37 10 105177564 105177564 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105177564 105177564 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1786 p.V596I 0.982 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 153 0 0 90 40 30.7692 PDCD11 0 genome.wustl.edu 37 10 105198554 105198554 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105198554 105198554 T C SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.4014 p.G1338 0.549 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 119 1 0.833333 64 29 31.1828 PDCD11 0 genome.wustl.edu 37 10 105203006 105203006 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105203006 105203006 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.5040 p.V1680 1.000 smart_HAT pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 120 1 0.826446 68 30 30.6122 PDCD11 0 genome.wustl.edu 37 10 105205159 105205159 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105205159 105205159 T C SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.5469 p.H1823 0.996 pfam_Suf,smart_HAT pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 182 0 0 129 10 7.19424 OBFC1 0 genome.wustl.edu 37 10 105642357 105642357 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105642357 105642357 A C SNP OBFC1 ENST00000466828 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OBFC1 HGNC ENSG00000107960 60 0 0 33 13 28.2609 GTPBP4 0 genome.wustl.edu 37 10 1058589 1058589 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 1058589 1058589 G A SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known missense c.1529 p.R510Q 0.989 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 32 0 0 27 13 32.5 WDR96 0 genome.wustl.edu 37 10 105900722 105900722 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105900722 105900722 T C SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.4309 p.T1437A 0.998 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 29 0 0 31 10 24.3902 WDR96 0 genome.wustl.edu 37 10 105921768 105921768 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 105921768 105921768 T C SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.3365 p.D1122G 1.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 424 0 0 249 126 33.6 CCDC147 0 genome.wustl.edu 37 10 106128305 106128305 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 106128305 106128305 C T SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.917 p.A306V 0.984 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 99 0 0 54 17 23.9437 CCDC147 0 genome.wustl.edu 37 10 106160654 106160654 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 106160654 106160654 G T SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known nonsense c.2032 p.E678* 0.991 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 54 0 0 37 27 42.1875 CCDC147 0 genome.wustl.edu 37 10 106209871 106209871 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 106209871 106209871 G T SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known nonsense c.2419 p.E807* 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 99 0 0 92 44 32.3529 SORCS3 0 genome.wustl.edu 37 10 106737154 106737154 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 106737154 106737154 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.857 p.A286V 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 96 0 0 43 16 27.1186 SORCS3 0 genome.wustl.edu 37 10 106737155 106737155 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 106737155 106737155 G A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.858 p.A286 0.005 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 97 0 0 41 18 30.5085 SORCS3 0 genome.wustl.edu 37 10 106899200 106899200 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 106899200 106899200 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known nonsense c.1258 p.E420* 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 165 0 0 87 34 28.0992 SMNDC1 0 genome.wustl.edu 37 10 112058499 112058499 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 112058499 112058499 G A SNP SMNDC1 ENST00000369603 human ensembl 74_37 -1 known missense c.170 p.T57M 0.999 NULL pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor - no_errors SMNDC1 HGNC ENSG00000119953 51 0 0 36 26 41.9355 WDR37 0 genome.wustl.edu 37 10 1126003 1126003 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 1126003 1126003 G A SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known silent c.288 p.A96 0.015 NULL 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 WDR37 HGNC ENSG00000047056 78 0 0 42 21 33.3333 PDCD4 0 genome.wustl.edu 37 10 112635813 112635813 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 112635813 112635813 A G SNP PDCD4 ENST00000280154 human ensembl 74_37 +1 known missense c.28 p.N10D 1.000 NULL pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 46 0 0 50 4 7.40741 TECTB 0 genome.wustl.edu 37 10 114053507 114053507 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114053507 114053507 C A SNP TECTB ENST00000369422 human ensembl 74_37 +1 known missense c.495 p.F165L 0.998 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 95 0 0 63 22 25.8824 TECTB 0 genome.wustl.edu 37 10 114059303 114059303 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114059303 114059303 C T SNP TECTB ENST00000369422 human ensembl 74_37 +1 known silent c.888 p.V296 0.114 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 83 0 0 57 16 21.9178 ACSL5 0 genome.wustl.edu 37 10 114186031 114186031 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114186031 114186031 G A SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known missense c.1921 p.V641M 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 114 0 0 61 27 30.6818 ACSL5 0 genome.wustl.edu 37 10 114186112 114186112 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114186112 114186112 A C SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known missense c.2002 p.N668H 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 108 0 0 44 26 37.1429 VTI1A 0 genome.wustl.edu 37 10 114224397 114224397 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114224397 114224397 G A SNP VTI1A ENST00000393077 human ensembl 74_37 +1 known missense c.245 p.G82E 1.000 pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 43 0 0 28 18 39.1304 TCF7L2 0 genome.wustl.edu 37 10 114920412 114920412 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114920412 114920412 C T SNP TCF7L2 ENST00000534894 human ensembl 74_37 +1 known missense c.1477 p.R493W 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 21 0 0 2 5 71.4286 TCF7L2 0 genome.wustl.edu 37 10 114925333 114925333 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 114925333 114925333 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.1462 p.R488C 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 207 0 0 134 61 31.2821 USP6NL 0 genome.wustl.edu 37 10 11504533 11504533 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 11504533 11504533 A G SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known silent c.2463 p.S821 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 147 0 0 116 45 27.9503 NRAP 0 genome.wustl.edu 37 10 115380377 115380377 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 115380377 115380377 C A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known nonsense c.2884 p.E962* 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 168 0 0 99 44 30.7692 NHLRC2 0 genome.wustl.edu 37 10 115661480 115661480 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 115661480 115661480 C T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known nonsense c.1195 p.R399* 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 188 0 0 113 58 33.9181 NHLRC2 0 genome.wustl.edu 37 10 115662299 115662299 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 115662299 115662299 A G SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known missense c.1441 p.T481A 0.527 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 125 0 0 92 44 32.3529 C10orf118 0 genome.wustl.edu 37 10 115887281 115887281 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 115887281 115887281 T G SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known missense c.2332 p.K778Q 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 82 0 0 62 34 35.4167 TRUB1 0 genome.wustl.edu 37 10 116734914 116734914 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 116734914 116734914 A G SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.826 p.T276A 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 179 0 0 167 21 11.1702 ATRNL1 0 genome.wustl.edu 37 10 116931127 116931127 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 116931127 116931127 T C SNP ATRNL1 ENST00000529665 human ensembl 74_37 +1 known rna NULL NULL 0.794 - - - no_errors ATRNL1 HGNC ENSG00000107518 38 0 0 21 8 27.5862 ATRNL1 0 genome.wustl.edu 37 10 117024726 117024726 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 117024726 117024726 T G SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.1744 p.F582V 1.000 pfam_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 127 0 0 104 42 28.7671 GFRA1 0 genome.wustl.edu 37 10 117849401 117849401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 117849401 117849401 C T SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.1048 p.D350N 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 82 0 0 35 16 31.3725 PNLIPRP3 0 genome.wustl.edu 37 10 118236226 118236226 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118236226 118236226 A G SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1235 p.N412S 0.805 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 110 0 0 65 35 35 PNLIP 0 genome.wustl.edu 37 10 118306875 118306875 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118306875 118306875 G T SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known missense c.116 p.R39I 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 150 0 0 65 36 35.6436 PNLIPRP1 0 genome.wustl.edu 37 10 118354250 118354250 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118354250 118354250 C T SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known silent c.339 p.F113 0.231 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 157 0 0 66 36 35.2941 PNLIPRP2 0 genome.wustl.edu 37 10 118383524 118383524 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118383524 118383524 C T SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known nonsense c.118 p.R40* 0.980 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase_panc pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 94 0 0 44 26 37.1429 HSPA12A 0 genome.wustl.edu 37 10 118460485 118460485 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118460485 118460485 T G SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.410 p.E137A 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 184 0 0 93 39 29.5455 KIAA1598 0 genome.wustl.edu 37 10 118661437 118661437 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118661437 118661437 G A SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known silent c.1512 p.S504 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 39 0 0 18 10 35.7143 KCNK18 0 genome.wustl.edu 37 10 118960684 118960684 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 118960684 118960684 A C SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.238 p.K80Q 0.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 292 0 0 139 71 33.8095 SLC18A2 0 genome.wustl.edu 37 10 119014811 119014811 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 119014811 119014811 C T SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.724 p.L242F 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 69 0 0 51 17 25 PDZD8 0 genome.wustl.edu 37 10 119043112 119043112 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 119043112 119043112 C T SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known silent c.3132 p.Q1044 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 157 0 0 91 50 35.461 PDZD8 0 genome.wustl.edu 37 10 119044160 119044160 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 119044160 119044160 C A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.2084 p.R695I 0.549 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 119 0 0 78 31 28.4404 PDZD8 0 genome.wustl.edu 37 10 119044314 119044314 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 119044314 119044314 C T SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.1930 p.D644N 0.391 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 106 0 0 60 35 36.8421 FAM204A 0 genome.wustl.edu 37 10 120070249 120070249 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 120070249 120070249 A C SNP FAM204A ENST00000469758 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM204A HGNC ENSG00000165669 16 0 0 15 11 42.3077 CACUL1 0 genome.wustl.edu 37 10 120460905 120460905 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 120460905 120460905 C T SNP CACUL1 ENST00000369151 human ensembl 74_37 -1 known missense c.709 p.E237K 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 68 0 0 47 35 42.6829 EIF3A 0 genome.wustl.edu 37 10 120825078 120825078 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 120825078 120825078 A G SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.955 p.S319P 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 144 0 0 72 36 33.3333 SFXN4 0 genome.wustl.edu 37 10 120923675 120923675 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 120923675 120923675 A C SNP SFXN4 ENST00000355697 human ensembl 74_37 -1 known missense c.145 p.L49V 0.467 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 118 0 0 63 60 48.7805 BAG3 0 genome.wustl.edu 37 10 121436099 121436099 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 121436099 121436099 G T SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known nonsense c.1033 p.E345* 0.967 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 250 1 0.398406 108 81 42.8571 INPP5F 0 genome.wustl.edu 37 10 121565919 121565919 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 121565919 121565919 T C SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1367 p.V456A 1.000 pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 23 0 0 22 8 26.6667 CDC123 0 genome.wustl.edu 37 10 12280462 12280462 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 12280462 12280462 T G SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known missense c.695 p.F232C 0.989 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 40 0 0 24 13 35.1351 FGFR2 0 genome.wustl.edu 37 10 123274722 123274722 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 123274722 123274722 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1199 p.R400Q 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 125 1 0.793651 85 36 29.7521 NSMCE4A 0 genome.wustl.edu 37 10 123719125 123719125 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 123719125 123719125 A C SNP NSMCE4A ENST00000459911 human ensembl 74_37 -1 known rna NULL NULL 0.803 - - - no_errors NSMCE4A HGNC ENSG00000107672 54 0 0 40 17 29.8246 TACC2 0 genome.wustl.edu 37 10 123845456 123845456 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 123845456 123845456 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.3441 p.P1147 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 75 0 0 40 20 33.3333 TACC2 0 genome.wustl.edu 37 10 123997519 123997519 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 123997519 123997519 A G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.8315 p.Y2772C 1.000 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 49 0 0 31 19 38 TACC2 0 genome.wustl.edu 37 10 124009084 124009084 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 124009084 124009084 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known nonsense c.8686 p.R2896* 0.991 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 59 0 0 30 18 37.5 BTBD16 0 genome.wustl.edu 37 10 124043396 124043396 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 124043396 124043396 C A SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known missense c.201 p.F67L 0.005 superfamily_BTB/POZ_fold superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 48 0 0 39 25 39.0625 HTRA1 0 genome.wustl.edu 37 10 124271569 124271569 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 124271569 124271569 C T SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.1262 p.T421I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 118 0 0 67 23 25.5556 CUZD1 0 genome.wustl.edu 37 10 124594392 124594392 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 124594392 124594392 T C SNP CUZD1 ENST00000368904 human ensembl 74_37 -1 known silent c.1212 p.S404 0.001 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 51 0 0 30 16 34.7826 C10orf88 0 genome.wustl.edu 37 10 124692137 124692137 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 124692137 124692137 G T SNP C10orf88 ENST00000481909 human ensembl 74_37 -1 known missense c.1144 p.L382I 1.000 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 44 0 0 24 11 31.4286 ACADSB 0 genome.wustl.edu 37 10 124812651 124812651 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 124812651 124812651 G T SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.1203 p.E401D 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 78 0 0 39 27 40.9091 C10orf137 0 genome.wustl.edu 37 10 127422070 127422070 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 127422070 127422070 T G SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.1226 p.F409C 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 42 0 0 23 23 50 C10orf137 0 genome.wustl.edu 37 10 127431743 127431743 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 127431743 127431743 C T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.2488 p.P830S 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 56 0 0 45 18 28.5714 MMP21 0 genome.wustl.edu 37 10 127459031 127459031 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 127459031 127459031 C T SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.1109 p.R370Q 0.965 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 207 1 0.480769 97 41 29.7101 MKI67 0 genome.wustl.edu 37 10 129899683 129899683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 129899683 129899683 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.9544 p.L3182F 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 223 0 0 131 48 26.8156 MKI67 0 genome.wustl.edu 37 10 129901203 129901203 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 129901203 129901203 T G SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.8901 p.K2967N 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 192 0 0 71 74 51.0345 MKI67 0 genome.wustl.edu 37 10 129904177 129904177 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 129904177 129904177 A C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.5927 p.I1976S 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 367 0 0 182 104 36.3636 MKI67 0 genome.wustl.edu 37 10 129905488 129905488 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 129905488 129905488 T C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.4616 p.H1539R 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 461 1 0.21645 331 30 8.31025 MKI67 0 genome.wustl.edu 37 10 129907415 129907415 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 129907415 129907415 T C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.2689 p.N897D 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 188 0 0 101 57 36.0759 MGMT 0 genome.wustl.edu 37 10 131557541 131557541 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 131557541 131557541 T C SNP MGMT ENST00000306010 human ensembl 74_37 +1 known missense c.443 p.L148S 0.999 pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 159 0 0 86 43 33.3333 EBF3 0 genome.wustl.edu 37 10 131760461 131760461 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 131760461 131760461 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.385 p.R129C 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 125 0 0 49 28 36.3636 GLRX3 0 genome.wustl.edu 37 10 131943557 131943557 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 131943557 131943557 G T SNP GLRX3 ENST00000331244 human ensembl 74_37 +1 known nonsense c.175 p.E59* 0.993 pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX3 HGNC ENSG00000108010 75 0 0 43 19 30.6452 TCERG1L 0 genome.wustl.edu 37 10 132915125 132915125 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 132915125 132915125 C T SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known silent c.1332 p.P444 0.016 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 9 0 0 9 4 30.7692 TCERG1L 0 genome.wustl.edu 37 10 132965127 132965127 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 132965127 132965127 C T SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.878 p.R293Q 0.031 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 63 0 0 35 5 12.5 PHYH 0 genome.wustl.edu 37 10 13336491 13336491 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 13336491 13336491 C A SNP PHYH ENST00000263038 human ensembl 74_37 -1 known missense c.351 p.M117I 0.000 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 99 0 0 47 31 39.7436 PPP2R2D 0 genome.wustl.edu 37 10 133758887 133758887 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 133758887 133758887 C T SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known silent c.651 p.F217 0.415 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 147 0 0 67 39 36.7925 BNIP3 0 genome.wustl.edu 37 10 133784192 133784192 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 133784192 133784192 T G SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known missense c.489 p.K163N 0.999 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 60 0 0 33 22 40 DPYSL4 0 genome.wustl.edu 37 10 134016247 134016247 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 134016247 134016247 T G SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1379 p.F460C 0.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 166 0 0 49 30 37.9747 LRRC27 0 genome.wustl.edu 37 10 134161693 134161693 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 134161693 134161693 G T SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known missense c.759 p.W253C 0.952 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 108 0 0 55 25 31.25 BEND7 0 genome.wustl.edu 37 10 13481494 13481494 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 13481494 13481494 G A SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known missense c.1238 p.A413V 0.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 58 0 0 29 11 27.5 KNDC1 0 genome.wustl.edu 37 10 135009295 135009295 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 135009295 135009295 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.1704 p.P568 0.005 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 27 0 0 10 3 23.0769 KNDC1 0 genome.wustl.edu 37 10 135015105 135015105 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 135015105 135015105 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.3096 p.F1032 0.006 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 136 0 0 72 33 31.4286 CYP2E1 0 genome.wustl.edu 37 10 135347293 135347293 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 135347293 135347293 G A SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.859 p.D287N 0.436 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 174 0 0 79 33 29.4643 FRMD4A 0 genome.wustl.edu 37 10 13735997 13735997 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 13735997 13735997 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.1018 p.D340N 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 111 0 0 50 25 33.3333 ADARB2 0 genome.wustl.edu 37 10 1405799 1405799 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 1405799 1405799 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known silent c.501 p.F167 0.988 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 40 0 0 13 10 43.4783 FAM107B 0 genome.wustl.edu 37 10 14572476 14572476 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 14572476 14572476 G T SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.508 p.L170I 0.987 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 109 0 0 61 27 30.6818 HSPA14 0 genome.wustl.edu 37 10 14893117 14893117 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 14893117 14893117 A C SNP HSPA14 ENST00000470430 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSPA14 HGNC ENSG00000187522 22 0 0 10 7 41.1765 SUV39H2 0 genome.wustl.edu 37 10 14938972 14938972 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 14938972 14938972 C A SNP SUV39H2 ENST00000354919 human ensembl 74_37 +1 known missense c.305 p.S102Y 1.000 pirsf_Histone_H3-K9_MeTrfase,pfscan_Chromo_domain/shadow pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H2 HGNC ENSG00000152455 87 0 0 60 30 33.3333 DCLRE1C 0 genome.wustl.edu 37 10 14951273 14951273 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 14951273 14951273 C T SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1213 p.V405I 0.885 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 69 0 0 43 21 32.8125 NMT2 0 genome.wustl.edu 37 10 15161473 15161473 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15161473 15161473 C A SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.1039 p.D347Y 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 124 0 0 69 28 28.866 FAM171A1 0 genome.wustl.edu 37 10 15255460 15255460 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15255460 15255460 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known silent c.2127 p.F709 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 189 1 0.526316 99 31 23.8462 FAM171A1 0 genome.wustl.edu 37 10 15258059 15258059 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15258059 15258059 C T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.922 p.A308T 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 47 0 0 34 18 34.6154 ITGA8 0 genome.wustl.edu 37 10 15573138 15573138 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15573138 15573138 G T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.2893 p.P965T 0.982 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 101 0 0 73 28 27.7228 ITGA8 0 genome.wustl.edu 37 10 15600166 15600166 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15600166 15600166 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.2673 p.S891 0.624 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 107 0 0 48 23 32.3944 ITGA8 0 genome.wustl.edu 37 10 15628612 15628612 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15628612 15628612 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.2343 p.I781 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 63 0 0 42 14 25 FAM188A 0 genome.wustl.edu 37 10 15821133 15821133 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 15821133 15821133 T C SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.1196 p.Y399C 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 60 0 0 38 21 35.5932 PTER 0 genome.wustl.edu 37 10 16526545 16526545 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 16526545 16526545 G T SNP PTER ENST00000298942 human ensembl 74_37 +1 known missense c.162 p.M54I 1.000 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 101 0 0 50 36 41.8605 PTER 0 genome.wustl.edu 37 10 16553255 16553255 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 16553255 16553255 G A SNP PTER ENST00000298942 human ensembl 74_37 +1 known silent c.1050 p.*350 0.089 NULL pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 120 0 0 75 35 31.8182 CUBN 0 genome.wustl.edu 37 10 16882375 16882375 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 16882375 16882375 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9986 p.S3329L 0.071 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 107 0 0 59 26 30.5882 CUBN 0 genome.wustl.edu 37 10 16911750 16911750 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 16911750 16911750 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.9339 p.C3113 0.993 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 159 0 0 80 45 36 CUBN 0 genome.wustl.edu 37 10 16918924 16918924 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 16918924 16918924 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.9078 p.F3026 0.000 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 122 0 0 65 28 30.1075 CUBN 0 genome.wustl.edu 37 10 17024530 17024530 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17024530 17024530 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.4648 p.L1550 0.987 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 89 0 0 54 29 34.9398 CUBN 0 genome.wustl.edu 37 10 17145179 17145179 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17145179 17145179 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.1475 p.V492A 0.000 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 81 0 0 33 30 47.619 CUBN 0 genome.wustl.edu 37 10 17147483 17147483 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17147483 17147483 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.1203 p.S401 0.467 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 129 0 0 74 29 28.1553 CUBN 0 genome.wustl.edu 37 10 17165587 17165587 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17165587 17165587 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.489 p.K163 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 38 0 0 24 5 17.2414 TRDMT1 0 genome.wustl.edu 37 10 17201203 17201203 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17201203 17201203 C T SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.485 p.R162Q 0.991 pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 86 0 0 75 39 34.2105 VIM 0 genome.wustl.edu 37 10 17277206 17277206 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17277206 17277206 G T SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1047 p.E349D 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 98 0 0 70 24 25.5319 ST8SIA6 0 genome.wustl.edu 37 10 17432535 17432535 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17432535 17432535 C T SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known silent c.285 p.T95 0.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 155 0 0 95 39 29.1045 101928757 0 genome.wustl.edu 37 10 17891665 17891665 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17891665 17891665 A C SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.1146 p.K382N 0.975 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 140 0 0 73 57 43.8462 101928757 0 genome.wustl.edu 37 10 17905582 17905582 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 17905582 17905582 G T SNP 101928757 ENST00000331429 human ensembl 74_37 +1 novel missense c.1673 p.R558M 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 49 0 0 9 22 70.9677 MRC1 0 genome.wustl.edu 37 10 18138590 18138590 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 18138590 18138590 A C SNP MRC1 ENST00000239761 human ensembl 74_37 +1 known missense c.1146 p.K382N 0.995 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 33 0 0 16 5 23.8095 SLC39A12 0 genome.wustl.edu 37 10 18280228 18280228 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 18280228 18280228 A G SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1418 p.D473G 0.003 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 62 0 0 54 22 28.9474 NSUN6 0 genome.wustl.edu 37 10 18875000 18875000 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 18875000 18875000 T G SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.800 p.K267T 1.000 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 51 0 0 32 17 34.6939 PLXDC2 0 genome.wustl.edu 37 10 20465940 20465940 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 20465940 20465940 G T SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.896 p.R299I 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 123 0 0 78 33 29.7297 NEBL 0 genome.wustl.edu 37 10 21098812 21098812 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 21098812 21098812 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2534 p.R845H 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 94 0 0 59 26 30.5882 NEBL 0 genome.wustl.edu 37 10 21177096 21177096 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 21177096 21177096 G T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.299 p.S100Y 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 68 0 0 43 19 30.6452 MLLT10 0 genome.wustl.edu 37 10 21906051 21906051 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 21906051 21906051 A C SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.614 p.K205T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 52 0 0 47 14 22.9508 DNAJC1 0 genome.wustl.edu 37 10 22171227 22171227 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 22171227 22171227 C T SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.962 p.R321Q 0.978 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 39 0 0 46 20 30.303 SPAG6 0 genome.wustl.edu 37 10 22680806 22680806 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 22680806 22680806 C A SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known missense c.1382 p.S461Y 0.002 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 61 0 0 30 13 30.2326 C10orf67 0 genome.wustl.edu 37 10 23611421 23611421 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 23611421 23611421 G T SNP C10orf67 ENST00000323327 human ensembl 74_37 -1 known missense c.376 p.L126I 0.003 NULL NULL - no_errors C10orf67 HGNC ENSG00000179133 67 0 0 42 16 27.5862 KIAA1217 0 genome.wustl.edu 37 10 24832504 24832504 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 24832504 24832504 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.4305 p.V1435 0.669 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 116 0 0 53 33 38.3721 ARHGAP21 0 genome.wustl.edu 37 10 24874037 24874037 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 24874037 24874037 T C SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known silent c.5181 p.A1727 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 198 0 0 112 68 37.7778 THNSL1 0 genome.wustl.edu 37 10 25312156 25312156 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 25312156 25312156 C T SNP THNSL1 ENST00000376356 human ensembl 74_37 +1 known missense c.4 p.L2F 0.999 superfamily_P-loop_NTPase pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 47 0 0 39 13 25 GPR158 0 genome.wustl.edu 37 10 25464659 25464659 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 25464659 25464659 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.310 p.E104K 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 105 0 0 47 21 30.8824 GPR158 0 genome.wustl.edu 37 10 25509998 25509998 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 25509998 25509998 A G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.920 p.D307G 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 76 0 0 45 21 31.8182 GPR158 0 genome.wustl.edu 37 10 25861601 25861601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 25861601 25861601 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1538 p.R513Q 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 114 0 0 84 40 32.2581 MYO3A 0 genome.wustl.edu 37 10 26385323 26385323 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 26385323 26385323 T G SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.1576 p.F526V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 41 0 0 25 17 40.4762 MYO3A 0 genome.wustl.edu 37 10 26490219 26490219 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 26490219 26490219 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.4571 p.R1524I 1.000 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 20 0 0 13 5 27.7778 ZMYND11 0 genome.wustl.edu 37 10 267147 267147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 267147 267147 G A SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.289 p.E97K 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 179 0 0 111 46 29.2994 ABI1 0 genome.wustl.edu 37 10 27066139 27066139 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27066139 27066139 C T SNP ABI1 ENST00000355394 human ensembl 74_37 -1 known missense c.317 p.R106Q 1.000 pfam_Abl-interactor_HHR_dom,pfscan_T_SNARE_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 52 0 0 29 12 29.2683 LINC00202-1 0 genome.wustl.edu 37 10 27223483 27223483 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27223483 27223483 G T SNP LINC00202-1 ENST00000458682 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LINC00202-1 HGNC ENSG00000232224 65 0 0 40 24 37.5 ANKRD26 0 genome.wustl.edu 37 10 27323866 27323866 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27323866 27323866 A C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.3561 p.F1187L 0.085 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 179 0 0 128 56 30.4348 ANKRD26 0 genome.wustl.edu 37 10 27335401 27335401 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27335401 27335401 T C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known silent c.1914 p.K638 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 84 0 0 43 19 30.6452 ANKRD26 0 genome.wustl.edu 37 10 27356125 27356125 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27356125 27356125 A C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.1315 p.L439V 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 85 0 0 55 24 30.3797 ANKRD26 0 genome.wustl.edu 37 10 27368089 27368089 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27368089 27368089 G T SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.889 p.L297I 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 77 0 0 61 33 35.1064 YME1L1 0 genome.wustl.edu 37 10 27411786 27411786 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27411786 27411786 G T SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1390 p.L464I 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 100 0 0 52 27 34.1772 YME1L1 0 genome.wustl.edu 37 10 27411858 27411858 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27411858 27411858 A C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1318 p.L440V 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 105 0 0 91 7 7.14286 MASTL 0 genome.wustl.edu 37 10 27459259 27459259 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27459259 27459259 A C SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.1371 p.K457N 0.979 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 MASTL HGNC ENSG00000120539 60 0 0 52 29 35.8025 PTCHD3 0 genome.wustl.edu 37 10 27687698 27687698 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27687698 27687698 A G SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.1829 p.V610A 0.001 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 107 1 0.925926 51 30 37.037 PTCHD3 0 genome.wustl.edu 37 10 27702138 27702138 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27702138 27702138 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.1042 p.D348N 0.002 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 365 0 0 210 88 29.5302 PTCHD3 0 genome.wustl.edu 37 10 27702944 27702944 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 27702944 27702944 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.236 p.S79L 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 120 0 0 56 24 30 MKX 0 genome.wustl.edu 37 10 28023641 28023641 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 28023641 28023641 C A SNP MKX ENST00000375790 human ensembl 74_37 -1 known missense c.582 p.E194D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 138 0 0 66 30 31.25 ARMC4 0 genome.wustl.edu 37 10 28196681 28196681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 28196681 28196681 G A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.2521 p.R841C 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 90 0 0 51 15 22.7273 ARMC4 0 genome.wustl.edu 37 10 28274087 28274087 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 28274087 28274087 C A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known nonsense c.436 p.E146* 0.981 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 16 0 0 18 9 33.3333 WAC 0 genome.wustl.edu 37 10 28900756 28900756 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 28900756 28900756 A C SNP WAC ENST00000354911 human ensembl 74_37 +1 known silent c.1342 p.R448 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 157 0 0 83 38 31.405 WAC 0 genome.wustl.edu 37 10 28905110 28905110 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 28905110 28905110 G T SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1565 p.R522I 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 133 0 0 92 38 29.2308 ZMYND11 0 genome.wustl.edu 37 10 294869 294869 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 294869 294869 G A SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.1527 p.K509 0.997 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 45 0 0 24 21 46.6667 SVIL 0 genome.wustl.edu 37 10 29813568 29813568 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 29813568 29813568 C A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known nonsense c.2419 p.E807* 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 255 0 0 109 54 33.1288 ZEB1 0 genome.wustl.edu 37 10 31809761 31809761 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 31809761 31809761 A G SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.1501 p.T501A 0.681 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 109 0 0 77 34 30.6306 KIF5B 0 genome.wustl.edu 37 10 32311856 32311856 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 32311856 32311856 C T SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.1834 p.E612K 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 79 0 0 58 38 39.5833 KIF5B 0 genome.wustl.edu 37 10 32327109 32327109 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 32327109 32327109 G T SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.480 p.N160K 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 87 0 0 52 15 22.3881 ENSG00000227253 0 genome.wustl.edu 37 10 32558113 32558113 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 32558113 32558113 G T SNP ENSG00000227253 ENST00000415731 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-166N17.1 Clone_based_vega_gene ENSG00000227253 21 0 0 10 5 33.3333 C10orf68 0 genome.wustl.edu 37 10 33000570 33000570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 33000570 33000570 A C SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.402 p.E134D 0.002 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 69 0 0 36 17 32.0755 C10orf68 0 genome.wustl.edu 37 10 33143334 33143334 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 33143334 33143334 C T SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1949 p.S650L 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 34 0 0 25 14 35.8974 NRP1 0 genome.wustl.edu 37 10 33545355 33545355 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 33545355 33545355 G A SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known nonsense c.703 p.R235* 0.982 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 119 0 0 80 35 30.4348 CREM 0 genome.wustl.edu 37 10 35467886 35467886 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 35467886 35467886 G T SNP CREM ENST00000395895 human ensembl 74_37 +1 known nonsense c.385 p.E129* 1.000 pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID,prints_Leuzip_CREB pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 41 0 0 23 15 39.4737 CCNY 0 genome.wustl.edu 37 10 35842060 35842060 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 35842060 35842060 T C SNP CCNY ENST00000374704 human ensembl 74_37 +1 known silent c.693 p.A231 0.261 pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNY HGNC ENSG00000108100 118 0 0 58 32 35.5556 ANKRD30A 0 genome.wustl.edu 37 10 37422915 37422915 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 37422915 37422915 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.521 p.D174G 0.007 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 255 0 0 159 65 29.0179 ANKRD30A 0 genome.wustl.edu 37 10 37454065 37454065 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 37454065 37454065 A C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1878 p.E626D 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 61 0 0 50 25 33.3333 ANKRD30A 0 genome.wustl.edu 37 10 37490200 37490200 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 37490200 37490200 T C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2648 p.V883A 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 94 0 0 73 32 30.4762 ZNF248 0 genome.wustl.edu 37 10 38121547 38121547 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 38121547 38121547 C T SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.736 p.E246K 0.993 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 ZNF248 HGNC ENSG00000198105 110 1 0.900901 60 37 38.1443 ZNF248 0 genome.wustl.edu 37 10 38121740 38121740 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 38121740 38121740 C A SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.543 p.E181D 0.857 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 69 0 0 48 28 36.8421 SEPT7P9 0 genome.wustl.edu 37 10 38680932 38680932 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 38680932 38680932 A C SNP SEPT7P9 ENST00000475691 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P9 HGNC ENSG00000120555 21 0 0 17 4 19.0476 ZNF37BP 0 genome.wustl.edu 37 10 43014647 43014647 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 43014647 43014647 G T SNP ZNF37BP ENST00000452075 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF37BP HGNC ENSG00000234420 15 0 0 10 4 28.5714 ZNF37BP 0 genome.wustl.edu 37 10 43015615 43015615 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 43015615 43015615 C T SNP ZNF37BP ENST00000452075 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors ZNF37BP HGNC ENSG00000234420 17 0 0 19 4 17.3913 BMS1 0 genome.wustl.edu 37 10 43316063 43316063 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 43316063 43316063 C T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.2877 p.I959 0.623 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 106 0 0 62 24 27.907 RET 0 genome.wustl.edu 37 10 43608350 43608350 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 43608350 43608350 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.1698 p.P566 0.107 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 85 0 0 32 7 17.9487 ZNF239 0 genome.wustl.edu 37 10 44052344 44052344 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 44052344 44052344 C T SNP ZNF239 ENST00000306006 human ensembl 74_37 -1 known missense c.1184 p.R395K 0.981 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF239 HGNC ENSG00000196793 99 0 0 46 31 40.2597 ZNF239 0 genome.wustl.edu 37 10 44053445 44053445 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 44053445 44053445 G A SNP ZNF239 ENST00000306006 human ensembl 74_37 -1 known missense c.83 p.S28F 0.018 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF239 HGNC ENSG00000196793 120 0 0 66 31 31.9588 DIP2C 0 genome.wustl.edu 37 10 460034 460034 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 460034 460034 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known silent c.876 p.P292 0.586 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 117 0 0 52 20 27.7778 ZFAND4 0 genome.wustl.edu 37 10 46121766 46121766 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 46121766 46121766 A G SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.1505 p.L502P 0.001 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 170 0 0 97 53 35.3333 GDF2 0 genome.wustl.edu 37 10 48414100 48414100 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 48414100 48414100 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.768 p.V256 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 98 0 0 37 30 44.7761 FRMPD2 0 genome.wustl.edu 37 10 49444554 49444554 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 49444554 49444554 T C SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.964 p.M322V 0.335 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 97 0 0 62 25 28.7356 SLC18A3 0 genome.wustl.edu 37 10 50819126 50819126 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 50819126 50819126 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.340 p.R114C 0.122 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 124 0 0 73 28 27.7228 CHAT 0 genome.wustl.edu 37 10 50830170 50830170 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 50830170 50830170 A G SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.726 p.V242 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 218 0 0 108 48 30.7692 OGDHL 0 genome.wustl.edu 37 10 50951941 50951941 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 50951941 50951941 C T SNP OGDHL ENST00000496884 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OGDHL HGNC ENSG00000197444 29 0 0 11 7 38.8889 OGDHL 0 genome.wustl.edu 37 10 50953530 50953530 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 50953530 50953530 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1489 p.R497W 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 101 0 0 43 16 27.1186 AGAP7 0 genome.wustl.edu 37 10 51464802 51464802 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 51464802 51464802 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1654 p.L552F 0.998 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 125 0 0 58 18 23.6842 MSMB 0 genome.wustl.edu 37 10 51562273 51562273 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 51562273 51562273 T C SNP MSMB ENST00000358559 human ensembl 74_37 +1 known missense c.218 p.V73A 0.000 pfam_PSP94 pfam_PSP94 - no_errors MSMB HGNC ENSG00000138294 322 0 0 187 95 33.6879 FAM21A 0 genome.wustl.edu 37 10 51829368 51829368 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 51829368 51829368 A C SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.188 p.K63T 1.000 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 164 0 0 110 54 32.9268 SGMS1 0 genome.wustl.edu 37 10 52103662 52103662 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 52103662 52103662 G A SNP SGMS1 ENST00000361781 human ensembl 74_37 -1 known silent c.213 p.H71 0.996 superfamily_SAM/pointed pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 107 0 0 59 25 29.7619 AKR1C4 0 genome.wustl.edu 37 10 5242274 5242274 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 5242274 5242274 G A SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.215 p.G72D 0.993 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 140 0 0 98 42 30 PRKG1 0 genome.wustl.edu 37 10 52912940 52912940 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 52912940 52912940 A C SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.328 p.K110Q 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 150 0 0 102 52 33.7662 CSTF2T 0 genome.wustl.edu 37 10 53458833 53458833 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 53458833 53458833 T G SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known silent c.477 p.R159 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 252 0 0 146 72 33.0275 PCDH15 0 genome.wustl.edu 37 10 55566762 55566762 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 55566762 55566762 G A SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known silent c.4623 p.N1541 0.798 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 83 0 0 74 27 26.7327 PCDH15 0 genome.wustl.edu 37 10 55569095 55569095 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 55569095 55569095 C T SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.4715 p.R1572K 0.407 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 74 0 0 51 32 38.5542 PCDH15 0 genome.wustl.edu 37 10 55569225 55569225 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 55569225 55569225 T G SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.4585 p.K1529Q 0.983 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 171 0 0 140 77 35.4839 PCDH15 0 genome.wustl.edu 37 10 55582450 55582450 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 55582450 55582450 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5036 p.R1679K 0.026 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 124 0 0 90 40 30.7692 PCDH15 0 genome.wustl.edu 37 10 55700682 55700682 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 55700682 55700682 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3176 p.S1059Y 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 75 0 0 48 17 26.1538 FAM208B 0 genome.wustl.edu 37 10 5784301 5784301 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 5784301 5784301 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.2569 p.E857K 0.006 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 174 0 0 107 51 32.2785 FAM208B 0 genome.wustl.edu 37 10 5791054 5791054 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 5791054 5791054 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.5670 p.E1890 0.004 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 60 0 0 40 14 25.9259 ANKRD16 0 genome.wustl.edu 37 10 5922312 5922312 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 5922312 5922312 G T SNP ANKRD16 ENST00000380092 human ensembl 74_37 -1 known missense c.877 p.L293I 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD16 HGNC ENSG00000134461 25 0 0 22 10 31.25 IL15RA 0 genome.wustl.edu 37 10 5994867 5994867 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 5994867 5994867 G T SNP IL15RA ENST00000379972 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IL15RA HGNC ENSG00000134470 8 0 0 3 4 57.1429 BICC1 0 genome.wustl.edu 37 10 60548181 60548181 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 60548181 60548181 C T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.598 p.R200W 1.000 smart_KH_dom pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 40 0 0 38 12 24 PHYHIPL 0 genome.wustl.edu 37 10 61005148 61005148 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61005148 61005148 T G SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.928 p.F310V 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 90 0 0 62 36 36.7347 PHYHIPL 0 genome.wustl.edu 37 10 61005308 61005308 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61005308 61005308 A C SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.1088 p.K363T 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 137 0 0 83 35 29.661 FAM13C 0 genome.wustl.edu 37 10 61011369 61011369 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61011369 61011369 C A SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known nonsense c.1600 p.E534* 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 199 0 0 143 54 27.4112 FAM13C 0 genome.wustl.edu 37 10 61062583 61062583 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61062583 61062583 T G SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.485 p.E162A 0.938 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 118 0 0 73 33 31.1321 CCDC6 0 genome.wustl.edu 37 10 61554295 61554295 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61554295 61554295 C T SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known missense c.1166 p.G389E 1.000 NULL pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 105 0 0 65 33 33.6735 ANK3 0 genome.wustl.edu 37 10 61831943 61831943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61831943 61831943 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8696 p.S2899F 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 75 0 0 57 22 27.8481 ANK3 0 genome.wustl.edu 37 10 61832027 61832027 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61832027 61832027 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8612 p.S2871L 0.997 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 114 0 0 67 44 39.6396 ANK3 0 genome.wustl.edu 37 10 61844546 61844546 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 61844546 61844546 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.3888 p.G1296 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 84 0 0 69 25 26.5957 JMJD1C 0 genome.wustl.edu 37 10 64973807 64973807 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 64973807 64973807 T G SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.2120 p.K707T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 122 0 0 61 43 41.3462 SIRT1 0 genome.wustl.edu 37 10 69648688 69648688 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 69648688 69648688 G A SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.596 p.R199Q 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 107 0 0 78 29 27.1028 HERC4 0 genome.wustl.edu 37 10 69700806 69700806 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 69700806 69700806 A C SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.2418 p.I806M 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 87 0 0 75 33 30.5556 MYPN 0 genome.wustl.edu 37 10 69905258 69905258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 69905258 69905258 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.1105 p.D369N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 63 0 0 64 33 34.0206 MYPN 0 genome.wustl.edu 37 10 69948801 69948801 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 69948801 69948801 A G SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.2843 p.D948G 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 96 0 0 56 24 30 HNRNPH3 0 genome.wustl.edu 37 10 70099299 70099299 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70099299 70099299 A C SNP HNRNPH3 ENST00000265866 human ensembl 74_37 +1 known missense c.626 p.N209T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 49 0 0 34 15 30.6122 DNA2 0 genome.wustl.edu 37 10 70182635 70182635 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70182635 70182635 T G SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.2479 p.T827P 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 43 0 0 21 13 38.2353 TET1 0 genome.wustl.edu 37 10 70446447 70446447 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70446447 70446447 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5387 p.S1796L 0.011 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 88 0 0 41 27 39.7059 TET1 0 genome.wustl.edu 37 10 70451273 70451273 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70451273 70451273 G A SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.6113 p.R2038H 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 102 0 0 64 24 27.2727 CCAR1 0 genome.wustl.edu 37 10 70525798 70525798 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70525798 70525798 G A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.2260 p.D754N 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 80 0 0 53 27 33.75 CCAR1 0 genome.wustl.edu 37 10 70550991 70550991 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70550991 70550991 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.3421 p.Q1141K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 78 0 0 53 37 41.1111 STOX1 0 genome.wustl.edu 37 10 70644481 70644481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70644481 70644481 A C SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.929 p.K310T 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 154 0 0 87 48 35.5556 STOX1 0 genome.wustl.edu 37 10 70645601 70645601 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70645601 70645601 A C SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.2049 p.Q683H 0.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 222 0 0 122 57 31.8436 KIAA1279 0 genome.wustl.edu 37 10 70776080 70776080 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70776080 70776080 G A SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.1774 p.E592K 0.560 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 74 0 0 47 23 32.8571 SRGN 0 genome.wustl.edu 37 10 70864007 70864007 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70864007 70864007 A G SNP SRGN ENST00000462445 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SRGN HGNC ENSG00000122862 32 0 0 25 15 37.5 VPS26A 0 genome.wustl.edu 37 10 70922222 70922222 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 70922222 70922222 A G SNP VPS26A ENST00000263559 human ensembl 74_37 +1 known missense c.612 p.I204M 1.000 pfam_VPS26 pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 25 0 0 23 17 42.5 HK1 0 genome.wustl.edu 37 10 71144127 71144127 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 71144127 71144127 A C SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.1714 p.N572H 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 253 0 0 105 66 38.5965 HK1 0 genome.wustl.edu 37 10 71152041 71152041 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 71152041 71152041 T C SNP HK1 ENST00000448642 human ensembl 74_37 +1 known silent c.2301 p.Y767 0.794 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 100 0 0 53 24 31.1688 COL13A1 0 genome.wustl.edu 37 10 71657243 71657243 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 71657243 71657243 A C SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known missense c.670 p.S224R 0.368 NULL pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 52 0 0 24 11 31.4286 ADAMTS14 0 genome.wustl.edu 37 10 72517751 72517751 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 72517751 72517751 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.2980 p.R994W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 144 0 0 63 46 42.2018 ADAMTS14 0 genome.wustl.edu 37 10 72520350 72520350 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 72520350 72520350 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.3422 p.T1141M 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 130 0 0 69 21 23.3333 SLC29A3 0 genome.wustl.edu 37 10 73122094 73122094 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 73122094 73122094 G A SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known missense c.1157 p.R386Q 1.000 pfam_Eqnu_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 291 0 0 135 54 28.5714 SFMBT2 0 genome.wustl.edu 37 10 7326097 7326097 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7326097 7326097 C A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.541 p.G181C 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 124 0 0 65 41 38.6792 CDH23 0 genome.wustl.edu 37 10 73466770 73466770 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 73466770 73466770 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3085 p.V1029M 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 24 0 0 9 5 35.7143 CHST3 0 genome.wustl.edu 37 10 73767275 73767275 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 73767275 73767275 C T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.486 p.F162 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 37 0 0 18 10 35.7143 SPOCK2 0 genome.wustl.edu 37 10 73830147 73830147 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 73830147 73830147 C A SNP SPOCK2 ENST00000317376 human ensembl 74_37 -1 known missense c.397 p.D133Y 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 62 0 0 35 14 28.5714 PLA2G12B 0 genome.wustl.edu 37 10 74714364 74714364 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 74714364 74714364 G A SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known missense c.80 p.T27M 0.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 225 1 0.442478 121 52 30.0578 P4HA1 0 genome.wustl.edu 37 10 74813221 74813221 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 74813221 74813221 G A SNP P4HA1 ENST00000263556 human ensembl 74_37 -1 known silent c.591 p.G197 0.986 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 175 0 0 89 63 41.4474 NUDT13 0 genome.wustl.edu 37 10 74890738 74890738 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 74890738 74890738 A G SNP NUDT13 ENST00000488223 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors NUDT13 HGNC ENSG00000166321 33 0 0 8 9 52.9412 TTC18 0 genome.wustl.edu 37 10 75035326 75035326 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 75035326 75035326 A C SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known missense c.2761 p.L921V 0.982 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 206 0 0 122 45 26.9461 AGAP5 0 genome.wustl.edu 37 10 75435151 75435151 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 75435151 75435151 A C SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.1267 p.F423V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 382 0 0 177 93 34.4444 ENSG00000242288 0 genome.wustl.edu 37 10 75488238 75488238 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 75488238 75488238 A C SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 0.921 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 47 0 0 45 27 37.5 CHCHD1 0 genome.wustl.edu 37 10 75542236 75542236 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 75542236 75542236 G T SNP CHCHD1 ENST00000372837 human ensembl 74_37 +1 known nonsense c.280 p.E94* 0.000 NULL pfam_CHCH,superfamily_Cys_alpha_HP_mot_SF - no_errors CHCHD1 HGNC ENSG00000172586 77 0 0 42 24 36.3636 NDST2 0 genome.wustl.edu 37 10 75566834 75566834 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 75566834 75566834 G T SNP NDST2 ENST00000463410 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NDST2 HGNC ENSG00000166507 366 1 0.27248 162 74 31.3559 KAT6B 0 genome.wustl.edu 37 10 76784845 76784845 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 76784845 76784845 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.3502 p.P1168S 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 83 0 0 44 25 36.2319 KAT6B 0 genome.wustl.edu 37 10 76788342 76788342 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 76788342 76788342 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.3760 p.R1254C 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 132 0 0 77 36 31.8584 ITIH5 0 genome.wustl.edu 37 10 7682734 7682734 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7682734 7682734 T G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.384 p.K128N 0.959 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 122 0 0 78 37 32.1739 ITIH2 0 genome.wustl.edu 37 10 7769791 7769791 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7769791 7769791 G T SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.1279 p.G427C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 48 0 0 29 14 32.5581 ITIH2 0 genome.wustl.edu 37 10 7785224 7785224 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7785224 7785224 T C SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known splice_site c.2209+2 e17+2 1.000 - - - no_errors ITIH2 HGNC ENSG00000151655 124 0 0 114 50 30.4878 KIN 0 genome.wustl.edu 37 10 7816807 7816807 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7816807 7816807 A T SNP KIN ENST00000379562 human ensembl 74_37 -1 known missense c.655 p.S219T 0.004 NULL pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 142 1 0.699301 68 36 34.6154 ATP5C1 0 genome.wustl.edu 37 10 7838094 7838094 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7838094 7838094 C T SNP ATP5C1 ENST00000356708 human ensembl 74_37 +1 known nonsense c.67 p.R23* 1.000 NULL pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 40 0 0 28 8 22.2222 ATP5C1 0 genome.wustl.edu 37 10 7844253 7844253 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7844253 7844253 G A SNP ATP5C1 ENST00000356708 human ensembl 74_37 +1 known missense c.658 p.D220N 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 81 0 0 45 25 35.7143 ATP5C1 0 genome.wustl.edu 37 10 7844768 7844768 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7844768 7844768 G A SNP ATP5C1 ENST00000356708 human ensembl 74_37 +1 known missense c.841 p.A281T 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 123 0 0 74 44 37.2881 KCNMA1 0 genome.wustl.edu 37 10 78651404 78651404 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 78651404 78651404 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.3233 p.A1078V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 80 0 0 37 31 45.5882 TAF3 0 genome.wustl.edu 37 10 7866365 7866365 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 7866365 7866365 T C SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.251 p.I84T 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 186 0 0 100 64 39.0244 KCNMA1 0 genome.wustl.edu 37 10 79397114 79397114 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 79397114 79397114 A G SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.287 p.V96A 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 40 0 0 28 8 22.2222 POLR3A 0 genome.wustl.edu 37 10 79779000 79779000 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 79779000 79779000 G T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1209 p.F403L 0.998 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 98 0 0 43 21 32.8125 GATA3 0 genome.wustl.edu 37 10 8115837 8115837 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 8115837 8115837 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.1186 p.A396T 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 151 0 0 94 36 27.6923 SFTPD 0 genome.wustl.edu 37 10 81706344 81706344 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 81706344 81706344 C A SNP SFTPD ENST00000372292 human ensembl 74_37 -1 known missense c.72 p.K24N 0.047 NULL pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 56 0 0 20 22 52.381 TSPAN14 0 genome.wustl.edu 37 10 82275789 82275789 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 82275789 82275789 G A SNP TSPAN14 ENST00000265450 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN14 HGNC ENSG00000108219 21 0 0 3 5 62.5 NRG3 0 genome.wustl.edu 37 10 84118498 84118498 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 84118498 84118498 C T SNP NRG3 ENST00000555784 human ensembl 74_37 +1 known nonsense c.139 p.R47* 0.998 NULL NULL - no_errors NRG3 HGNC ENSG00000185737 124 0 0 53 28 34.5679 NRG3 0 genome.wustl.edu 37 10 84745345 84745345 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 84745345 84745345 C A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.2147 p.S716Y 0.987 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 144 0 0 87 31 26.2712 GHITM 0 genome.wustl.edu 37 10 85902490 85902490 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 85902490 85902490 C T SNP GHITM ENST00000372134 human ensembl 74_37 +1 known missense c.209 p.S70L 0.996 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 51 0 0 32 17 34.6939 RGR 0 genome.wustl.edu 37 10 86012656 86012656 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 86012656 86012656 C T SNP RGR ENST00000359452 human ensembl 74_37 +1 known silent c.414 p.F138 0.857 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn - no_errors RGR HGNC ENSG00000148604 175 0 0 86 24 21.8182 LARP4B 0 genome.wustl.edu 37 10 871710 871710 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 871710 871710 C T SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1226 p.R409Q 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 29 0 0 14 8 36.3636 LARP4B 0 genome.wustl.edu 37 10 875374 875374 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 875374 875374 A G SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1076 p.I359T 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 69 0 0 41 20 32.7869 ENSG00000271880 0 genome.wustl.edu 37 10 88769752 88769752 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 88769752 88769752 T C SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.695 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 43 0 0 25 9 26.4706 PTEN 0 genome.wustl.edu 37 10 89693129 89693129 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 89693129 89693129 T C SNP PTEN ENST00000498703 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTEN HGNC ENSG00000171862 9 0 0 13 7 35 LIPJ 0 genome.wustl.edu 37 10 90353788 90353788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 90353788 90353788 C T SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known silent c.216 p.G72 1.000 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 109 1 0.909091 104 7 6.30631 LIPJ 0 genome.wustl.edu 37 10 90356076 90356076 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 90356076 90356076 G T SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known missense c.479 p.R160I 0.081 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 29 0 0 23 13 36.1111 LIPF 0 genome.wustl.edu 37 10 90427119 90427119 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 90427119 90427119 G A SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.95 p.G32E 0.194 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 94 0 0 47 24 33.8028 ANKRD22 0 genome.wustl.edu 37 10 90582738 90582738 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 90582738 90582738 T G SNP ANKRD22 ENST00000371930 human ensembl 74_37 -1 known missense c.536 p.K179T 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 150 0 0 119 59 33.1461 LARP4B 0 genome.wustl.edu 37 10 910209 910209 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 910209 910209 A G SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.143 p.V48A 0.998 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 84 0 0 47 24 33.8028 IFIT2 0 genome.wustl.edu 37 10 91066464 91066464 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 91066464 91066464 C T SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.751 p.R251C 0.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 140 0 0 71 34 32.381 IFIT3 0 genome.wustl.edu 37 10 91099660 91099660 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 91099660 91099660 T G SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.1248 p.N416K 0.129 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 103 0 0 59 21 26.25 KIF20B 0 genome.wustl.edu 37 10 91484801 91484801 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 91484801 91484801 G A SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known silent c.1887 p.E629 0.071 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 96 0 0 58 31 34.8315 KIF20B 0 genome.wustl.edu 37 10 91498280 91498280 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 91498280 91498280 G T SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known nonsense c.3772 p.E1258* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 57 0 0 59 24 28.9157 KIF20B 0 genome.wustl.edu 37 10 91528597 91528597 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 91528597 91528597 A C SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.5284 p.K1762Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 65 0 0 57 30 34.4828 ANKRD1 0 genome.wustl.edu 37 10 92675935 92675935 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 92675935 92675935 C T SNP ANKRD1 ENST00000371697 human ensembl 74_37 -1 known missense c.644 p.R215Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD1 HGNC ENSG00000148677 57 0 0 39 16 29.0909 BTAF1 0 genome.wustl.edu 37 10 93786976 93786976 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 93786976 93786976 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.5325 p.A1775 0.995 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 136 0 0 103 58 36.0248 IDE 0 genome.wustl.edu 37 10 94215362 94215362 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 94215362 94215362 T G SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.2935 p.N979H 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 77 0 0 59 25 29.7619 CYP26C1 0 genome.wustl.edu 37 10 94824234 94824234 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 94824234 94824234 G A SNP CYP26C1 ENST00000285949 human ensembl 74_37 +1 known missense c.802 p.D268N 0.134 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC ENSG00000187553 107 0 0 57 17 22.973 CYP26A1 0 genome.wustl.edu 37 10 94836943 94836943 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 94836943 94836943 T C SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.1376 p.L459P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 64 0 0 51 24 32 MYOF 0 genome.wustl.edu 37 10 95161176 95161176 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95161176 95161176 C A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.1116 p.Q372H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 140 0 0 83 34 29.0598 FFAR4 0 genome.wustl.edu 37 10 95335855 95335855 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95335855 95335855 C T SNP FFAR4 ENST00000371483 human ensembl 74_37 +1 known missense c.575 p.S192L 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 192 0 0 105 44 29.5302 FRA10AC1 0 genome.wustl.edu 37 10 95445100 95445100 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95445100 95445100 T C SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known silent c.528 p.G176 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 116 0 0 89 47 34.5588 FRA10AC1 0 genome.wustl.edu 37 10 95447191 95447191 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95447191 95447191 G A SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known nonsense c.481 p.R161* 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 17 0 0 11 8 42.1053 LGI1 0 genome.wustl.edu 37 10 95556817 95556817 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95556817 95556817 C T SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known nonsense c.931 p.R311* 0.997 pfam_EPTP,superfamily_WD40_repeat_dom pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 117 0 0 68 31 31.3131 PIPSL 0 genome.wustl.edu 37 10 95720561 95720561 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95720561 95720561 G A SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors PIPSL HGNC ENSG00000180764 98 0 0 57 30 34.4828 PLCE1 0 genome.wustl.edu 37 10 95791016 95791016 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 95791016 95791016 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.213 p.K71 0.002 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 116 0 0 98 6 5.76923 NOC3L 0 genome.wustl.edu 37 10 96097537 96097537 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 96097537 96097537 C T SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known missense c.2186 p.R729Q 1.000 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 99 0 0 65 31 32.2917 NOC3L 0 genome.wustl.edu 37 10 96099593 96099593 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 96099593 96099593 C T SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known missense c.1865 p.R622Q 1.000 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 90 0 0 59 15 20.2703 CYP2C8 0 genome.wustl.edu 37 10 96796963 96796963 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 96796963 96796963 C A SNP CYP2C8 ENST00000371270 human ensembl 74_37 -1 known missense c.1395 p.K465N 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C8 HGNC ENSG00000138115 51 0 0 27 14 34.1463 CYP2C8 0 genome.wustl.edu 37 10 96829106 96829106 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 96829106 96829106 T G SNP CYP2C8 ENST00000371270 human ensembl 74_37 -1 known silent c.54 p.S18 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C8 HGNC ENSG00000138115 82 0 0 53 33 38.3721 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779216 97779216 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 97779216 97779216 C T SNP ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 26 0 0 36 12 25 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779620 97779620 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 97779620 97779620 A G SNP ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 105 0 0 64 36 36 ZNF518A 0 genome.wustl.edu 37 10 97916956 97916956 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 97916956 97916956 G T SNP ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 26 0 0 17 9 34.6154 ZNF518A 0 genome.wustl.edu 37 10 97918860 97918860 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 97918860 97918860 A C SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors ZNF518A HGNC ENSG00000177853 58 0 0 56 22 28.2051 TM9SF3 0 genome.wustl.edu 37 10 98321841 98321841 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 98321841 98321841 T G SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.476 p.K159T 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 26 0 0 24 15 38.4615 PIK3AP1 0 genome.wustl.edu 37 10 98376434 98376434 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 98376434 98376434 C T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known missense c.1976 p.R659Q 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 159 0 0 83 36 30.2521 PIK3AP1 0 genome.wustl.edu 37 10 98408569 98408569 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 98408569 98408569 C T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known silent c.1032 p.A344 0.001 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 56 0 0 31 8 20.5128 C10orf12 0 genome.wustl.edu 37 10 98743206 98743206 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 98743206 98743206 G A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.2059 p.E687K 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 135 0 0 69 31 31 C10orf12 0 genome.wustl.edu 37 10 98744567 98744567 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 98744567 98744567 G A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known silent c.3420 p.T1140 0.002 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 66 0 0 52 26 33.3333 SLIT1 0 genome.wustl.edu 37 10 98764578 98764578 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 98764578 98764578 G T SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.3582 p.V1194 0.926 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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 SLIT1 HGNC ENSG00000187122 65 0 0 34 16 32 MMS19 0 genome.wustl.edu 37 10 99223673 99223673 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 99223673 99223673 A C SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known nonsense c.1854 p.Y618* 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 30 0 0 10 5 33.3333 MMS19 0 genome.wustl.edu 37 10 99225597 99225597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 99225597 99225597 G A SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.1721 p.P574L 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 151 0 0 97 36 27.0677 CRTAC1 0 genome.wustl.edu 37 10 99655723 99655723 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 99655723 99655723 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.1236 p.F412 0.999 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 92 0 0 46 18 28.125 R3HCC1L 0 genome.wustl.edu 37 10 99991421 99991421 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 10 99991421 99991421 T C SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known silent c.1938 p.L646 0.967 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 122 0 0 69 43 38.3929 PGR 0 genome.wustl.edu 37 11 100922293 100922293 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 100922293 100922293 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2219 p.R740Q 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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 78 0 0 61 28 31.4607 MUC6 0 genome.wustl.edu 37 11 1016585 1016585 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1016585 1016585 G T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6216 p.S2072R 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 653 1 0.152905 286 82 22.2826 KIAA1377 0 genome.wustl.edu 37 11 101832555 101832555 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 101832555 101832555 A C SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.789 p.E263D 0.913 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 62 0 0 47 15 24.1935 KIAA1377 0 genome.wustl.edu 37 11 101863564 101863564 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 101863564 101863564 A G SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.3300 p.I1100M 0.995 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 14 0 0 25 12 32.4324 MMP8 0 genome.wustl.edu 37 11 102592161 102592161 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 102592161 102592161 G A SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.593 p.A198V 0.956 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 78 0 0 56 11 16.4179 MUC6 0 genome.wustl.edu 37 11 1026380 1026380 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1026380 1026380 G T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2493 p.F831L 0.603 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 35 0 0 20 6 23.0769 MMP10 0 genome.wustl.edu 37 11 102650413 102650413 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 102650413 102650413 T C SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.169 p.N57D 0.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 47 0 0 43 19 30.6452 MUC6 0 genome.wustl.edu 37 11 1027310 1027310 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1027310 1027310 A G SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2189 p.F730S 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 327 0 0 84 72 46.1538 MMP12 0 genome.wustl.edu 37 11 102736644 102736644 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 102736644 102736644 G T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC ENSG00000110347 34 0 0 35 3 7.89474 MUC6 0 genome.wustl.edu 37 11 1027763 1027763 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1027763 1027763 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.1903 p.A635T 0.937 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 26 0 0 18 5 21.7391 DYNC2H1 0 genome.wustl.edu 37 11 102986023 102986023 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 102986023 102986023 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.620 p.R207I 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 8 0 0 3 5 62.5 DYNC2H1 0 genome.wustl.edu 37 11 103070011 103070011 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 103070011 103070011 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.7894 p.E2632K 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 38 0 0 16 13 44.8276 DYNC2H1 0 genome.wustl.edu 37 11 103086472 103086472 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 103086472 103086472 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.8717 p.E2906A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 19 0 0 11 10 47.619 CARD18 0 genome.wustl.edu 37 11 105009778 105009778 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 105009778 105009778 A C SNP CARD18 ENST00000530950 human ensembl 74_37 -1 known missense c.35 p.I12S 0.003 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD18 HGNC ENSG00000255501 107 0 0 61 20 24.6914 GRIA4 0 genome.wustl.edu 37 11 105732782 105732782 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 105732782 105732782 G A SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.520 p.A174T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 84 0 0 60 31 34.0659 GUCY1A2 0 genome.wustl.edu 37 11 106810861 106810861 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 106810861 106810861 G T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.531 p.F177L 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 84 0 0 74 30 28.8462 GUCY1A2 0 genome.wustl.edu 37 11 106888540 106888540 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 106888540 106888540 C T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.242 p.R81H 1.000 NULL pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 10 0 0 7 5 41.6667 CTR9 0 genome.wustl.edu 37 11 10789639 10789639 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 10789639 10789639 C T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1891 p.R631C 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 123 0 0 58 25 30.1205 CUL5 0 genome.wustl.edu 37 11 107969212 107969212 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 107969212 107969212 G T SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known nonsense c.2104 p.E702* 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 69 0 0 59 37 38.5417 ATM 0 genome.wustl.edu 37 11 108114687 108114687 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 108114687 108114687 C A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.504 p.F168L 0.325 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 15 0 0 8 3 27.2727 ATM 0 genome.wustl.edu 37 11 108138042 108138042 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 108138042 108138042 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.2611 p.E871K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 76 0 0 37 22 37.2881 ATM 0 genome.wustl.edu 37 11 108203492 108203492 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 108203492 108203492 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.7792 p.R2598* 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 38 0 0 26 9 25.7143 ATM 0 genome.wustl.edu 37 11 108213967 108213967 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 108213967 108213967 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.8287 p.R2763* 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 183 0 0 148 41 21.6931 ATM 0 genome.wustl.edu 37 11 108216486 108216486 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 108216486 108216486 C A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.8435 p.S2812Y 0.979 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 140 0 0 88 57 39.3103 DDX10 0 genome.wustl.edu 37 11 108593962 108593962 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 108593962 108593962 G T SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known nonsense c.1738 p.E580* 0.354 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 49 0 0 34 16 32 ZC3H12C 0 genome.wustl.edu 37 11 110007958 110007958 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 110007958 110007958 G T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known nonsense c.592 p.E198* 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 45 0 0 38 12 24 ZC3H12C 0 genome.wustl.edu 37 11 110035304 110035304 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 110035304 110035304 A C SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1494 p.Q498H 0.890 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 109 0 0 57 32 35.9551 FDX1 0 genome.wustl.edu 37 11 110333089 110333089 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 110333089 110333089 G A SNP FDX1 ENST00000260270 human ensembl 74_37 +1 known missense c.452 p.G151D 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1 HGNC ENSG00000137714 89 0 0 29 19 39.5833 ARHGAP20 0 genome.wustl.edu 37 11 110451042 110451042 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 110451042 110451042 A C SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known silent c.2628 p.G876 0.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 178 0 0 107 59 35.5422 C11orf88 0 genome.wustl.edu 37 11 111404477 111404477 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 111404477 111404477 A G SNP C11orf88 ENST00000529167 human ensembl 74_37 +1 known missense c.427 p.T143A 0.875 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 63 0 0 55 23 29.4872 PPP2R1B 0 genome.wustl.edu 37 11 111624289 111624289 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 111624289 111624289 C T SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.1042 p.D348N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 41 0 0 24 13 35.1351 FDXACB1 0 genome.wustl.edu 37 11 111746444 111746444 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 111746444 111746444 G A SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known silent c.1077 p.I359 0.973 NULL pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 222 0 0 95 63 39.8734 BCO2 0 genome.wustl.edu 37 11 112064319 112064319 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 112064319 112064319 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.416 p.R139Q 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 56 0 0 34 17 33.3333 TTC12 0 genome.wustl.edu 37 11 113233147 113233147 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 113233147 113233147 A G SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known missense c.1639 p.T547A 0.916 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 102 0 0 72 26 26.5306 ZW10 0 genome.wustl.edu 37 11 113614686 113614686 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 113614686 113614686 A C SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.1349 p.V450G 0.010 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 118 1 0.840336 63 29 31.5217 CLDN25 0 genome.wustl.edu 37 11 113650908 113650908 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 113650908 113650908 G A SNP CLDN25 ENST00000453129 human ensembl 74_37 +1 known missense c.391 p.A131T 0.909 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 126 0 0 55 41 42.7083 ATF4P4 0 genome.wustl.edu 37 11 113661046 113661046 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 113661046 113661046 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.887 - - - no_errors ATF4P4 HGNC ENSG00000256167 119 0 0 60 30 33.3333 USP28 0 genome.wustl.edu 37 11 113670038 113670038 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 113670038 113670038 G T SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.3158 p.S1053Y 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 146 0 0 73 38 34.2342 CSNK2A3 0 genome.wustl.edu 37 11 11374429 11374429 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 11374429 11374429 G A SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.238 p.R80C 0.996 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 190 0 0 93 41 30.597 HTR3A 0 genome.wustl.edu 37 11 113846067 113846067 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 113846067 113846067 A C SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.38 p.Q13P 0.000 tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 46 0 0 24 8 25 REXO2 0 genome.wustl.edu 37 11 114320615 114320615 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 114320615 114320615 G A SNP REXO2 ENST00000265881 human ensembl 74_37 +1 known missense c.632 p.R211Q 1.000 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO2 HGNC ENSG00000076043 97 0 0 72 49 40.4959 CADM1 0 genome.wustl.edu 37 11 115061632 115061632 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 115061632 115061632 C A SNP CADM1 ENST00000331581 human ensembl 74_37 -1 novel nonsense c.1141 p.E381* 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 26 0 0 11 8 42.1053 CADM1 0 genome.wustl.edu 37 11 115085387 115085387 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 115085387 115085387 C T SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.935 p.R312H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 121 0 0 69 37 34.9057 APOA5 0 genome.wustl.edu 37 11 116661297 116661297 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 116661297 116661297 G A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known silent c.648 p.H216 0.042 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 38 0 0 20 8 28.5714 APOA4 0 genome.wustl.edu 37 11 116692535 116692535 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 116692535 116692535 A C SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.239 p.L80R 0.998 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 198 0 0 73 35 32.4074 SIDT2 0 genome.wustl.edu 37 11 117066741 117066741 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117066741 117066741 G A SNP SIDT2 ENST00000324225 human ensembl 74_37 +1 known missense c.2458 p.D820N 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 183 0 0 97 34 25.9542 CEP164 0 genome.wustl.edu 37 11 117278689 117278689 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117278689 117278689 A C SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.3550 p.N1184H 0.053 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 22 0 0 13 7 35 DSCAML1 0 genome.wustl.edu 37 11 117307845 117307845 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117307845 117307845 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.4893 p.Y1631 0.997 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 118 0 0 51 17 25 DSCAML1 0 genome.wustl.edu 37 11 117375680 117375680 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117375680 117375680 T C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.2321 p.D774G 0.995 pfam_Ig_I-set,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 117 0 0 53 15 22.0588 DSCAML1 0 genome.wustl.edu 37 11 117387316 117387316 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117387316 117387316 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1829 p.R610H 1.000 pfam_Ig_I-set,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 65 0 0 32 9 21.9512 ENSG00000254844 0 genome.wustl.edu 37 11 117691317 117691317 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117691317 117691317 C T SNP ENSG00000254844 ENST00000531850 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-728F11.3 Clone_based_vega_gene ENSG00000254844 50 0 0 31 6 16.2162 TMPRSS13 0 genome.wustl.edu 37 11 117779398 117779398 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 117779398 117779398 C T SNP TMPRSS13 ENST00000445164 human ensembl 74_37 -1 known missense c.1211 p.S404N 0.297 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1 - no_errors TMPRSS13 HGNC ENSG00000137747 9 0 0 9 6 40 SCN2B 0 genome.wustl.edu 37 11 118039303 118039303 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118039303 118039303 C A SNP SCN2B ENST00000278947 human ensembl 74_37 -1 known missense c.234 p.E78D 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 198 0 0 92 36 28.125 AMICA1 0 genome.wustl.edu 37 11 118074145 118074145 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118074145 118074145 C T SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known missense c.770 p.R257Q 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 373 0 0 181 76 29.572 KMT2A 0 genome.wustl.edu 37 11 118352757 118352757 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118352757 118352757 A C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.3962 p.K1321T 0.998 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 79 0 0 35 27 43.5484 ARCN1 0 genome.wustl.edu 37 11 118452034 118452034 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118452034 118452034 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.77 p.R26Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 192 0 0 111 50 31.0559 PHLDB1 0 genome.wustl.edu 37 11 118498939 118498939 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118498939 118498939 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.1400 p.R467Q 0.976 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 188 0 0 92 32 25.8065 TREH 0 genome.wustl.edu 37 11 118529423 118529423 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118529423 118529423 C T SNP TREH ENST00000264029 human ensembl 74_37 -1 known missense c.1565 p.G522E 1.000 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 - no_errors TREH HGNC ENSG00000118094 27 0 0 8 3 27.2727 BCL9L 0 genome.wustl.edu 37 11 118771988 118771988 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118771988 118771988 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.2464 p.A822T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 129 0 0 36 17 32.0755 SLC37A4 0 genome.wustl.edu 37 11 118895938 118895938 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118895938 118895938 A G SNP SLC37A4 ENST00000357590 human ensembl 74_37 -1 known silent c.1152 p.C384 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar_P_transporter pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar_P_transporter - no_errors SLC37A4 HGNC ENSG00000137700 43 0 0 27 11 28.9474 DPAGT1 0 genome.wustl.edu 37 11 118967732 118967732 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 118967732 118967732 G A SNP DPAGT1 ENST00000354202 human ensembl 74_37 -1 known silent c.1203 p.L401 0.998 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 84 0 0 26 18 40.9091 MFRP 0 genome.wustl.edu 37 11 119216216 119216216 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 119216216 119216216 C A SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.555 p.K185N 0.943 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 108 0 0 43 15 25.8621 USP47 0 genome.wustl.edu 37 11 11971915 11971915 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 11971915 11971915 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.3529 p.R1177C 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 59 0 0 34 17 33.3333 USP47 0 genome.wustl.edu 37 11 11971986 11971986 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 11971986 11971986 T G SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.3600 p.I1200M 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 94 0 0 64 36 36 ARHGEF12 0 genome.wustl.edu 37 11 120292551 120292551 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 120292551 120292551 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.281 p.R94Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 95 0 0 68 31 31.3131 ARHGEF12 0 genome.wustl.edu 37 11 120350997 120350997 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 120350997 120350997 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.4038 p.M1346I 0.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 144 1 0.689655 82 44 34.9206 TECTA 0 genome.wustl.edu 37 11 121000423 121000423 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 121000423 121000423 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2444 p.T815M 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 204 0 0 97 62 38.9937 SC5D 0 genome.wustl.edu 37 11 121174120 121174120 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 121174120 121174120 T G SNP SC5D ENST00000264027 human ensembl 74_37 +1 known missense c.36 p.F12L 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors SC5D HGNC ENSG00000109929 86 0 0 88 36 29.0323 SORL1 0 genome.wustl.edu 37 11 121429396 121429396 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 121429396 121429396 G T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.2760 p.V920 0.999 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 196 0 0 125 37 22.8395 SORL1 0 genome.wustl.edu 37 11 121478832 121478832 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 121478832 121478832 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5186 p.R1729H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 80 0 0 42 19 31.1475 SORL1 0 genome.wustl.edu 37 11 121491794 121491794 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 121491794 121491794 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5911 p.D1971N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 75 0 0 40 16 28.5714 MICAL2 0 genome.wustl.edu 37 11 12231140 12231140 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 12231140 12231140 T C SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.686 p.L229P 1.000 prints_Rng_hydrolase-like pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 122 0 0 61 19 23.75 CLMP 0 genome.wustl.edu 37 11 122944366 122944366 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 122944366 122944366 C T SNP CLMP ENST00000448775 human ensembl 74_37 -1 known missense c.938 p.R313H 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CLMP HGNC ENSG00000166250 222 1 0.44843 98 51 34.2282 MICALCL 0 genome.wustl.edu 37 11 12315174 12315174 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 12315174 12315174 C T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.196 p.R66W 0.000 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 261 0 0 176 55 23.8095 GRAMD1B 0 genome.wustl.edu 37 11 123477453 123477453 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 123477453 123477453 A G SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.1031 p.D344G 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 38 0 0 21 8 27.5862 OR8D4 0 genome.wustl.edu 37 11 123778058 123778058 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 123778058 123778058 G T SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known missense c.920 p.R307I 0.299 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 42 0 0 37 16 30.1887 PANX3 0 genome.wustl.edu 37 11 124489454 124489454 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 124489454 124489454 A G SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known missense c.802 p.I268V 0.005 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 106 0 0 53 23 30.2632 HEPACAM 0 genome.wustl.edu 37 11 124793897 124793897 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 124793897 124793897 G A SNP HEPACAM ENST00000298251 human ensembl 74_37 -1 known missense c.437 p.S146L 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM HGNC ENSG00000165478 22 0 0 20 3 13.0435 CCDC15 0 genome.wustl.edu 37 11 124858023 124858023 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 124858023 124858023 A C SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.1901 p.K634T 0.001 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 92 0 0 66 32 32.6531 CCDC15 0 genome.wustl.edu 37 11 124863121 124863121 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 124863121 124863121 T C SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known silent c.2196 p.N732 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 13 0 0 17 4 19.0476 CCDC15 0 genome.wustl.edu 37 11 124908850 124908850 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 124908850 124908850 G T SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.2619 p.E873D 1.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 118 0 0 104 40 27.7778 PKNOX2 0 genome.wustl.edu 37 11 125301169 125301169 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125301169 125301169 G T SNP PKNOX2 ENST00000298282 human ensembl 74_37 +1 known nonsense c.1300 p.E434* 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX2 HGNC ENSG00000165495 62 0 0 22 9 29.0323 FEZ1 0 genome.wustl.edu 37 11 125315903 125315903 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125315903 125315903 C T SNP FEZ1 ENST00000526507 human ensembl 74_37 -1 known rna NULL NULL 0.964 - - - no_errors FEZ1 HGNC ENSG00000149557 148 0 0 71 43 37.7193 PARVA 0 genome.wustl.edu 37 11 12535563 12535563 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 12535563 12535563 A G SNP PARVA ENST00000334956 human ensembl 74_37 +1 known missense c.938 p.N313S 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVA HGNC ENSG00000197702 47 0 0 27 15 35.7143 EI24 0 genome.wustl.edu 37 11 125451124 125451124 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125451124 125451124 C T SNP EI24 ENST00000278903 human ensembl 74_37 +1 known missense c.691 p.R231W 1.000 NULL NULL - no_errors EI24 HGNC ENSG00000149547 41 0 0 21 13 38.2353 STT3A 0 genome.wustl.edu 37 11 125488282 125488282 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125488282 125488282 C A SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.1789 p.L597I 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 62 0 0 32 16 33.3333 CHEK1 0 genome.wustl.edu 37 11 125497713 125497713 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125497713 125497713 T G SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known missense c.277 p.F93V 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 CHEK1 HGNC ENSG00000149554 102 0 0 64 20 23.8095 CHEK1 0 genome.wustl.edu 37 11 125505412 125505412 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125505412 125505412 C T SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known silent c.702 p.I234 0.266 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 CHEK1 HGNC ENSG00000149554 152 0 0 143 54 27.4112 PATE1 0 genome.wustl.edu 37 11 125617607 125617607 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125617607 125617607 T G SNP PATE1 ENST00000305738 human ensembl 74_37 +1 known missense c.137 p.V46G 0.340 NULL NULL - no_errors PATE1 HGNC ENSG00000171053 153 0 0 60 31 34.0659 PUS3 0 genome.wustl.edu 37 11 125763722 125763722 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125763722 125763722 C T SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known silent c.1404 p.T468 0.002 NULL pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 179 0 0 105 59 35.9756 PUS3 0 genome.wustl.edu 37 11 125763900 125763900 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125763900 125763900 C T SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.1226 p.R409H 1.000 NULL pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 230 0 0 123 58 32.0442 HYLS1 0 genome.wustl.edu 37 11 125769653 125769653 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125769653 125769653 C A SNP HYLS1 ENST00000356438 human ensembl 74_37 +1 known missense c.390 p.D130E 1.000 NULL NULL - no_errors HYLS1 HGNC ENSG00000198331 111 1 0.892857 58 41 41.4141 DDX25 0 genome.wustl.edu 37 11 125792754 125792754 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 125792754 125792754 A C SNP DDX25 ENST00000263576 human ensembl 74_37 +1 known missense c.1430 p.E477A 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX25 HGNC ENSG00000109832 13 0 0 10 4 28.5714 RPUSD4 0 genome.wustl.edu 37 11 126074205 126074205 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 126074205 126074205 C T SNP RPUSD4 ENST00000298317 human ensembl 74_37 -1 known missense c.815 p.R272Q 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 99 0 0 50 24 32.4324 FAM118B 0 genome.wustl.edu 37 11 126104933 126104933 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 126104933 126104933 G A SNP FAM118B ENST00000533050 human ensembl 74_37 +1 known missense c.37 p.E13K 0.699 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 49 0 0 27 11 28.9474 MUC5B 0 genome.wustl.edu 37 11 1268507 1268507 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1268507 1268507 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.10406 p.T3469M 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 128 0 0 61 29 32.2222 MUC5B 0 genome.wustl.edu 37 11 1271226 1271226 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1271226 1271226 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.13125 p.T4375 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 238 0 0 101 56 35.6688 ARHGAP32 0 genome.wustl.edu 37 11 128844756 128844756 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 128844756 128844756 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.2294 p.G765E 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 71 0 0 44 27 38.0282 ARHGAP32 0 genome.wustl.edu 37 11 128936648 128936648 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 128936648 128936648 T C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.605 p.D202G 0.998 pfam_Phox,superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 50 0 0 27 10 27.027 ADAMTS8 0 genome.wustl.edu 37 11 130284622 130284622 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 130284622 130284622 C A SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.1370 p.G457V 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 104 0 0 60 24 28.5714 ADAMTS15 0 genome.wustl.edu 37 11 130319043 130319043 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 130319043 130319043 G T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.175 p.A59S 0.384 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 127 1 0.78125 65 36 35.6436 TOLLIP 0 genome.wustl.edu 37 11 1311585 1311585 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1311585 1311585 G A SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known missense c.238 p.R80C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 77 0 0 30 13 30.2326 ARNTL 0 genome.wustl.edu 37 11 13380010 13380010 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 13380010 13380010 G A SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 222 0 0 136 57 29.5337 NCAPD3 0 genome.wustl.edu 37 11 134079276 134079276 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 134079276 134079276 C A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.663 p.K221N 0.998 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 72 0 0 37 20 35.0877 VPS26B 0 genome.wustl.edu 37 11 134095105 134095105 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 134095105 134095105 A G SNP VPS26B ENST00000281187 human ensembl 74_37 +1 known missense c.89 p.E30G 1.000 pfam_VPS26,superfamily_Ig_E-set pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 71 0 0 23 18 43.9024 RRAS2 0 genome.wustl.edu 37 11 14300968 14300968 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 14300968 14300968 T G SNP RRAS2 ENST00000545643 human ensembl 74_37 -1 known missense c.548 p.K183T 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS2 HGNC ENSG00000133818 107 0 0 68 33 32.6733 COPB1 0 genome.wustl.edu 37 11 14490365 14490365 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 14490365 14490365 G A SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.2007 p.D669 1.000 pfam_Coatomer_bsu_C,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 246 0 0 149 70 31.9635 PDE3B 0 genome.wustl.edu 37 11 14880774 14880774 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 14880774 14880774 C T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known silent c.2706 p.L902 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 74 0 0 38 18 32.1429 PDE3B 0 genome.wustl.edu 37 11 14891108 14891108 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 14891108 14891108 A C SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.3241 p.K1081Q 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 112 0 0 81 20 19.802 CYP2R1 0 genome.wustl.edu 37 11 14901790 14901790 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 14901790 14901790 C A SNP CYP2R1 ENST00000334636 human ensembl 74_37 -1 known nonsense c.892 p.E298* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2R1 HGNC ENSG00000186104 78 0 0 62 23 27.0588 CYP2R1 0 genome.wustl.edu 37 11 14907379 14907379 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 14907379 14907379 C T SNP CYP2R1 ENST00000334636 human ensembl 74_37 -1 known missense c.310 p.E104K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2R1 HGNC ENSG00000186104 77 0 0 57 29 33.7209 DUSP8 0 genome.wustl.edu 37 11 1578801 1578801 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 1578801 1578801 G A SNP DUSP8 ENST00000331588 human ensembl 74_37 -1 known silent c.825 p.F275 0.988 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 18 0 0 9 4 30.7692 SOX6 0 genome.wustl.edu 37 11 16119153 16119153 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 16119153 16119153 A G SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known splice_site c.978+2 e7+2 1.000 - - - no_errors SOX6 HGNC ENSG00000110693 56 0 0 29 13 30.9524 SOX6 0 genome.wustl.edu 37 11 16208354 16208354 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 16208354 16208354 T C SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.683 p.D228G 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 239 0 0 125 47 27.3256 PLEKHA7 0 genome.wustl.edu 37 11 16824525 16824525 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 16824525 16824525 C A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.2151 p.E717D 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 141 0 0 69 39 36.1111 PLEKHA7 0 genome.wustl.edu 37 11 16863173 16863173 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 16863173 16863173 C T SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.793 p.D265N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 130 0 0 72 32 30.7692 PLEKHA7 0 genome.wustl.edu 37 11 16892681 16892681 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 16892681 16892681 A G SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known silent c.270 p.F90 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 66 0 0 34 15 30.6122 OR7E14P 0 genome.wustl.edu 37 11 17073756 17073756 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 17073756 17073756 A G SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.814 - - - no_errors OR7E14P HGNC ENSG00000184669 54 0 0 33 18 35.2941 PIK3C2A 0 genome.wustl.edu 37 11 17139172 17139172 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 17139172 17139172 C T SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.3082 p.E1028K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 100 0 0 59 35 37.234 PIK3C2A 0 genome.wustl.edu 37 11 17177086 17177086 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 17177086 17177086 G A SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known nonsense c.1156 p.R386* 0.963 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 82 0 0 52 21 28.7671 PIK3C2A 0 genome.wustl.edu 37 11 17190351 17190351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 17190351 17190351 G A SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.938 p.S313L 0.603 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 150 0 0 109 28 20.438 USH1C 0 genome.wustl.edu 37 11 17537820 17537820 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 17537820 17537820 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1228 p.R410C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 31 0 0 17 3 15 TPH1 0 genome.wustl.edu 37 11 18042653 18042653 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18042653 18042653 C T SNP TPH1 ENST00000341556 human ensembl 74_37 -1 known missense c.1220 p.S407N 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 205 0 0 60 63 51.2195 TPH1 0 genome.wustl.edu 37 11 18057677 18057677 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18057677 18057677 T C SNP TPH1 ENST00000341556 human ensembl 74_37 -1 known missense c.130 p.N44D 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 42 0 0 34 10 22.7273 MRGPRX3 0 genome.wustl.edu 37 11 18159568 18159568 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18159568 18159568 C A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.819 p.F273L 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 112 0 0 63 31 32.9787 SAA2 0 genome.wustl.edu 37 11 18267004 18267004 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18267004 18267004 C T SNP SAA2 ENST00000256733 human ensembl 74_37 -1 known missense c.289 p.D97N 0.987 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA2 HGNC ENSG00000134339 103 0 0 48 26 35.1351 HPS5 0 genome.wustl.edu 37 11 18309169 18309169 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18309169 18309169 G A SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.2630 p.S877L 0.402 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 96 0 0 60 25 29.4118 LDHA 0 genome.wustl.edu 37 11 18421014 18421014 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18421014 18421014 G A SNP LDHA ENST00000540430 human ensembl 74_37 +1 known missense c.250 p.E84K 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 131 0 0 80 41 33.8843 TSG101 0 genome.wustl.edu 37 11 18536371 18536371 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18536371 18536371 G A SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known missense c.211 p.P71S 1.000 pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 223 0 0 143 50 25.9067 SPTY2D1-AS1 0 genome.wustl.edu 37 11 18631601 18631601 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18631601 18631601 C T SNP SPTY2D1-AS1 ENST00000501599 human ensembl 74_37 +1 known rna NULL NULL 0.579 - - - no_errors SPTY2D1-AS1 HGNC ENSG00000247595 25 0 0 14 8 36.3636 TMEM86A 0 genome.wustl.edu 37 11 18723139 18723139 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 18723139 18723139 G A SNP TMEM86A ENST00000280734 human ensembl 74_37 +1 known silent c.306 p.V102 1.000 pfam_YhhN pfam_YhhN - no_errors TMEM86A HGNC ENSG00000151117 180 0 0 81 37 31.3559 SCGB1C1 0 genome.wustl.edu 37 11 193746 193746 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 193746 193746 C A SNP SCGB1C1 ENST00000342878 human ensembl 74_37 +1 known missense c.90 p.F30L 1.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1C1 HGNC ENSG00000188076 107 0 0 77 7 8.33333 H19 0 genome.wustl.edu 37 11 2016731 2016731 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 2016731 2016731 A G SNP H19 ENST00000411754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors H19 HGNC ENSG00000130600 41 0 0 11 7 38.8889 SLC6A5 0 genome.wustl.edu 37 11 20668389 20668389 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 20668389 20668389 G T SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.1979 p.R660I 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 69 0 0 41 7 14.5833 SLC6A5 0 genome.wustl.edu 37 11 20673936 20673936 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 20673936 20673936 T C SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known silent c.2172 p.C724 0.978 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 203 0 0 97 50 34.0136 NELL1 0 genome.wustl.edu 37 11 21135211 21135211 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 21135211 21135211 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.1377 p.R459 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 123 0 0 68 46 40.3509 NELL1 0 genome.wustl.edu 37 11 21135236 21135236 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 21135236 21135236 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.1402 p.R468C 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 132 0 0 67 49 42.2414 NELL1 0 genome.wustl.edu 37 11 21596583 21596583 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 21596583 21596583 A G SNP NELL1 ENST00000529218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NELL1 HGNC ENSG00000165973 45 0 0 31 21 40.3846 ANO5 0 genome.wustl.edu 37 11 22291982 22291982 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 22291982 22291982 G T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known nonsense c.2023 p.E675* 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 169 0 0 106 43 28.8591 SLC17A6 0 genome.wustl.edu 37 11 22396342 22396342 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 22396342 22396342 T G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1083 p.I361M 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 229 0 0 154 79 33.9056 KCNQ1 0 genome.wustl.edu 37 11 2609948 2609948 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 2609948 2609948 G T SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known missense c.1257 p.K419N 0.978 prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 41 0 0 18 5 21.7391 ANO3 0 genome.wustl.edu 37 11 26584609 26584609 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 26584609 26584609 C T SNP ANO3 ENST00000529242 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANO3 HGNC ENSG00000134343 53 0 0 28 17 37.7778 SLC5A12 0 genome.wustl.edu 37 11 26700347 26700347 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 26700347 26700347 A G SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known silent c.1491 p.D497 0.094 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 119 0 0 53 27 33.75 FIBIN 0 genome.wustl.edu 37 11 27016106 27016106 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 27016106 27016106 C T SNP FIBIN ENST00000318627 human ensembl 74_37 +1 known silent c.33 p.F11 0.374 NULL NULL - no_errors FIBIN HGNC ENSG00000176971 117 0 0 66 17 20.4819 BDNF 0 genome.wustl.edu 37 11 27679427 27679427 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 27679427 27679427 G A SNP BDNF ENST00000438929 human ensembl 74_37 -1 known nonsense c.931 p.R311* 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 155 0 0 110 47 29.9363 KCNA4 0 genome.wustl.edu 37 11 30032364 30032364 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 30032364 30032364 G T SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.1862 p.S621Y 1.000 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 143 0 0 78 34 30.3571 CARS 0 genome.wustl.edu 37 11 3039178 3039178 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 3039178 3039178 A G SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.1636 p.F546L 1.000 tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 64 0 0 28 14 33.3333 MPPED2 0 genome.wustl.edu 37 11 30439133 30439133 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 30439133 30439133 G T SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.584 p.S195Y 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 58 0 0 41 12 22.6415 CARS 0 genome.wustl.edu 37 11 3050134 3050134 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 3050134 3050134 C T SNP CARS ENST00000465240 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors CARS HGNC ENSG00000110619 45 0 0 24 8 25 ELP4 0 genome.wustl.edu 37 11 31625328 31625328 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 31625328 31625328 C A SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known nonsense c.527 p.S176* 0.962 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 100 0 0 84 42 33.3333 ELP4 0 genome.wustl.edu 37 11 31648659 31648659 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 31648659 31648659 C T SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known missense c.656 p.S219F 0.496 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 78 0 0 55 20 26.6667 WT1 0 genome.wustl.edu 37 11 32439194 32439194 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32439194 32439194 A C SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.879 p.N293K 0.994 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 68 0 0 33 26 44.0678 WT1 0 genome.wustl.edu 37 11 32449551 32449551 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32449551 32449551 C T SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.823 p.D275N 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 51 0 0 16 8 33.3333 CCDC73 0 genome.wustl.edu 37 11 32635173 32635173 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32635173 32635173 T G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.2691 p.K897N 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 184 0 0 122 61 33.3333 CCDC73 0 genome.wustl.edu 37 11 32636375 32636375 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32636375 32636375 T G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.1489 p.I497L 0.005 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 82 0 0 57 22 27.8481 CCDC73 0 genome.wustl.edu 37 11 32637444 32637444 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32637444 32637444 C A SNP CCDC73 ENST00000534415 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors CCDC73 HGNC ENSG00000186714 16 0 0 19 10 34.4828 CCDC73 0 genome.wustl.edu 37 11 32657256 32657256 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32657256 32657256 C G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.1171 p.D391H 0.984 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 34 0 0 20 10 33.3333 CCDC73 0 genome.wustl.edu 37 11 32676471 32676471 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32676471 32676471 A G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known silent c.693 p.C231 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 38 0 0 23 16 41.0256 QSER1 0 genome.wustl.edu 37 11 32954327 32954327 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32954327 32954327 C A SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.1136 p.S379Y 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 165 0 0 97 47 32.6389 QSER1 0 genome.wustl.edu 37 11 32976960 32976960 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 32976960 32976960 T C SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known splice_site c.4230+2 e4+2 1.000 - - - no_errors QSER1 HGNC ENSG00000060749 37 0 0 31 10 24.3902 TCP11L1 0 genome.wustl.edu 37 11 33094125 33094125 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 33094125 33094125 A G SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known missense c.1433 p.E478G 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 188 0 0 120 45 27.2727 HIPK3 0 genome.wustl.edu 37 11 33308184 33308184 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 33308184 33308184 A G SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.224 p.N75S 0.265 NULL 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 - no_errors HIPK3 HGNC ENSG00000110422 154 0 0 84 39 31.7073 HIPK3 0 genome.wustl.edu 37 11 33308552 33308552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 33308552 33308552 G A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.592 p.E198K 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 107 1 0.925926 46 31 40.2597 HIPK3 0 genome.wustl.edu 37 11 33375100 33375100 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 33375100 33375100 T C SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.3634 p.Y1212H 1.000 NULL 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 - no_errors HIPK3 HGNC ENSG00000110422 117 0 0 84 6 6.66667 CAPRIN1 0 genome.wustl.edu 37 11 34098105 34098105 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 34098105 34098105 A C SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known splice_site c.606-2 e5-2 1.000 - - - no_errors CAPRIN1 HGNC ENSG00000135387 112 0 0 80 42 34.4262 NAT10 0 genome.wustl.edu 37 11 34163346 34163346 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 34163346 34163346 G A SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known silent c.2793 p.K931 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 72 0 0 37 16 30.1887 ABTB2 0 genome.wustl.edu 37 11 34184328 34184328 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 34184328 34184328 C T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known silent c.2013 p.T671 0.973 smart_Ankyrin_rpt pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 65 0 0 25 10 28.5714 EHF 0 genome.wustl.edu 37 11 34670605 34670605 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 34670605 34670605 T C SNP EHF ENST00000257831 human ensembl 74_37 +1 known missense c.383 p.V128A 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 271 0 0 123 60 32.7869 EHF 0 genome.wustl.edu 37 11 34680177 34680177 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 34680177 34680177 C T SNP EHF ENST00000257831 human ensembl 74_37 +1 known silent c.705 p.G235 0.998 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 113 0 0 75 43 36.4407 FJX1 0 genome.wustl.edu 37 11 35641111 35641111 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 35641111 35641111 C A SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known silent c.927 p.L309 0.997 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 81 0 0 28 11 28.2051 FJX1 0 genome.wustl.edu 37 11 35641181 35641181 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 35641181 35641181 G A SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known missense c.997 p.A333T 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 58 0 0 25 13 34.2105 PRR5L 0 genome.wustl.edu 37 11 36467895 36467895 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 36467895 36467895 G T SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.490 p.D164Y 1.000 pfam_HbrB pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 85 0 0 41 29 41.4286 NUP98 0 genome.wustl.edu 37 11 3716702 3716702 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 3716702 3716702 A G SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.4144 p.F1382L 1.000 pfam_Nup96 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 299 0 0 183 77 29.6154 B4GALNT4 0 genome.wustl.edu 37 11 380147 380147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 380147 380147 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.2660 p.R887Q 0.990 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 43 0 0 19 8 29.6296 HNRNPKP3 0 genome.wustl.edu 37 11 43284436 43284436 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 43284436 43284436 T G SNP HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 24 0 0 16 10 38.4615 ACCSL 0 genome.wustl.edu 37 11 44070029 44070029 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 44070029 44070029 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.443 p.S148L 0.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 137 0 0 81 30 27.027 SYT13 0 genome.wustl.edu 37 11 45267974 45267974 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 45267974 45267974 C T SNP SYT13 ENST00000020926 human ensembl 74_37 -1 known silent c.936 p.K312 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 - no_errors SYT13 HGNC ENSG00000019505 89 0 0 44 20 31.25 CHST1 0 genome.wustl.edu 37 11 45671749 45671749 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 45671749 45671749 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.725 p.S242L 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 140 0 0 53 38 41.7582 OR52M1 0 genome.wustl.edu 37 11 4567211 4567211 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4567211 4567211 T C SNP OR52M1 ENST00000360213 human ensembl 74_37 +1 known missense c.791 p.I264T 0.780 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52M1 HGNC ENSG00000197790 145 0 0 72 36 33.3333 C11orf40 0 genome.wustl.edu 37 11 4593454 4593454 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4593454 4593454 C T SNP C11orf40 ENST00000307616 human ensembl 74_37 -1 known missense c.379 p.A127T 0.207 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 87 0 0 58 17 22.6667 OR52I2 0 genome.wustl.edu 37 11 4608256 4608256 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4608256 4608256 A G SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known missense c.214 p.N72D 0.999 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 OR52I2 HGNC ENSG00000226288 353 0 0 186 74 28.4615 TRIM68 0 genome.wustl.edu 37 11 4621672 4621672 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4621672 4621672 G A SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.1292 p.A431V 0.987 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY 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_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 106 0 0 66 22 25 ATG13 0 genome.wustl.edu 37 11 46665897 46665897 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 46665897 46665897 T G SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known missense c.56 p.F19C 1.000 pfam_Autophagy-rel_p13 pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 107 0 0 59 31 34.4444 CKAP5 0 genome.wustl.edu 37 11 46776615 46776615 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 46776615 46776615 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.4692 p.I1564 0.101 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 78 0 0 31 13 29.5455 CKAP5 0 genome.wustl.edu 37 11 46804892 46804892 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 46804892 46804892 C A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.2181 p.K727N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 55 0 0 30 19 38.7755 C11orf49 0 genome.wustl.edu 37 11 47179525 47179525 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 47179525 47179525 G A SNP C11orf49 ENST00000525953 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C11orf49 HGNC ENSG00000149179 86 0 0 43 17 28.3333 MADD 0 genome.wustl.edu 37 11 47348331 47348331 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 47348331 47348331 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known nonsense c.4765 p.R1589* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 111 0 0 53 28 34.5679 SPI1 0 genome.wustl.edu 37 11 47397271 47397271 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 47397271 47397271 C A SNP SPI1 ENST00000227163 human ensembl 74_37 -1 known missense c.58 p.D20Y 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPI1 HGNC ENSG00000066336 123 0 0 71 12 14.4578 MTCH2 0 genome.wustl.edu 37 11 47640313 47640313 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 47640313 47640313 G T SNP MTCH2 ENST00000534074 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MTCH2 HGNC ENSG00000109919 101 0 0 54 36 40 OR51F1 0 genome.wustl.edu 37 11 4790838 4790838 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4790838 4790838 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.331 p.F111L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 73 0 0 39 27 40.9091 OR51S1 0 genome.wustl.edu 37 11 4870013 4870013 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4870013 4870013 C T SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known silent c.426 p.A142 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 193 0 0 97 49 33.5616 OR51T1 0 genome.wustl.edu 37 11 4904076 4904076 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 4904076 4904076 G A SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known missense c.1028 p.G343D 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 95 0 0 44 22 33.3333 TRIM49B 0 genome.wustl.edu 37 11 49059322 49059322 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 49059322 49059322 G A SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known silent c.1152 p.K384 0.053 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,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 TRIM49B HGNC ENSG00000182053 159 0 0 68 52 43.3333 LOC440040 0 genome.wustl.edu 37 11 49831387 49831387 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 49831387 49831387 C T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.087 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 47 0 0 28 17 37.7778 OR4C12 0 genome.wustl.edu 37 11 50003388 50003388 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 50003388 50003388 A G SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.650 p.V217A 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 105 0 0 79 24 23.301 OR52A5 0 genome.wustl.edu 37 11 5153774 5153774 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5153774 5153774 G T SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.99 p.F33L 0.505 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 107 0 0 68 25 26.8817 OR52A1 0 genome.wustl.edu 37 11 5173501 5173501 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5173501 5173501 G A SNP OR52A1 ENST00000328942 human ensembl 74_37 -1 known silent c.99 p.F33 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 78 0 0 41 23 35.9375 HBD 0 genome.wustl.edu 37 11 5253984 5253984 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5253984 5253984 A G SNP HBD ENST00000292901 human ensembl 74_37 -1 putative silent c.360 p.C120 0.000 NULL pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b - no_errors HBD HGNC ENSG00000223609 27 0 0 14 7 33.3333 HBG2 0 genome.wustl.edu 37 11 5275593 5275593 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5275593 5275593 G T SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known missense c.244 p.L82I 0.118 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 352 0 0 198 12 5.71429 OR51B4 0 genome.wustl.edu 37 11 5322320 5322320 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5322320 5322320 G T SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known missense c.857 p.P286H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 88 0 0 50 25 33.3333 OR51B5 0 genome.wustl.edu 37 11 5364321 5364321 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5364321 5364321 C T SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known missense c.434 p.G145E 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 OR51B5 HGNC ENSG00000242180 106 0 0 67 29 30.2083 OR51B6 0 genome.wustl.edu 37 11 5373216 5373216 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5373216 5373216 G A SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.479 p.R160H 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 - no_errors OR51B6 HGNC ENSG00000176239 138 0 0 72 36 33.3333 OR51B6 0 genome.wustl.edu 37 11 5373534 5373534 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5373534 5373534 T C SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.797 p.V266A 0.009 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 212 0 0 99 60 37.7358 OR51M1 0 genome.wustl.edu 37 11 5410951 5410951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5410951 5410951 C T SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.323 p.A108V 0.211 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 303 0 0 109 67 38.0682 OR51M1 0 genome.wustl.edu 37 11 5411514 5411514 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5411514 5411514 C T SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.886 p.P296S 1.000 pfam_GPCR_Rhodpsn,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 OR51M1 HGNC ENSG00000184698 52 0 0 29 9 23.6842 OR4A16 0 genome.wustl.edu 37 11 55111601 55111601 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55111601 55111601 A C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.925 p.K309Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 36 0 0 23 11 32.3529 UBQLN3 0 genome.wustl.edu 37 11 5529786 5529786 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5529786 5529786 T G SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.1003 p.N335H 0.009 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 138 0 0 54 16 22.8571 OR4C15 0 genome.wustl.edu 37 11 55321977 55321977 + Silent SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55321977 55321977 C G SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.195 p.V65 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 191 0 0 119 46 27.8788 LRRC56 0 genome.wustl.edu 37 11 554059 554059 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 554059 554059 A G SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.1412 p.D471G 0.004 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 179 0 0 79 30 27.5229 OR4S2 0 genome.wustl.edu 37 11 55418468 55418468 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55418468 55418468 C A SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.89 p.S30Y 0.272 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 160 0 0 81 39 32.5 OR4C6 0 genome.wustl.edu 37 11 55433046 55433046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55433046 55433046 G A SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.404 p.S135N 0.001 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 OR4C6 HGNC ENSG00000181903 139 0 0 99 34 25.5639 OR5D13 0 genome.wustl.edu 37 11 55541018 55541018 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55541018 55541018 C T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known silent c.105 p.F35 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 182 0 0 115 50 30.303 OR5D13 0 genome.wustl.edu 37 11 55541337 55541337 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55541337 55541337 C T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.424 p.L142F 0.001 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 OR5D13 HGNC ENSG00000198877 303 0 0 173 71 29.0984 OR5D14 0 genome.wustl.edu 37 11 55563579 55563579 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55563579 55563579 A G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.548 p.Y183C 0.001 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 OR5D14 HGNC ENSG00000186113 293 0 0 178 68 27.6423 OR5L2 0 genome.wustl.edu 37 11 55595592 55595592 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55595592 55595592 G A SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.898 p.A300T 0.046 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 43 0 0 41 16 28.0702 OR5D16 0 genome.wustl.edu 37 11 55606387 55606387 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55606387 55606387 A C SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.160 p.N54H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 227 0 0 151 62 29.108 OR5D16 0 genome.wustl.edu 37 11 55606573 55606573 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55606573 55606573 C A SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.346 p.L116I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 202 0 0 117 66 36.0656 TRIM51 0 genome.wustl.edu 37 11 55658701 55658701 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55658701 55658701 G T SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.952 p.D318Y 0.956 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 180 0 0 102 49 32.4503 OR5W2 0 genome.wustl.edu 37 11 55681666 55681666 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55681666 55681666 G A SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known silent c.393 p.L131 0.796 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 OR5W2 HGNC ENSG00000187612 104 0 0 61 30 32.967 OR10AG1 0 genome.wustl.edu 37 11 55735572 55735572 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55735572 55735572 T C SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.368 p.Y123C 0.972 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 OR10AG1 HGNC ENSG00000174970 86 0 0 60 31 34.0659 OR10AG1 0 genome.wustl.edu 37 11 55735927 55735927 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55735927 55735927 G T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.13 p.L5I 0.777 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 63 0 0 44 22 33.3333 OR5AS1 0 genome.wustl.edu 37 11 55798656 55798656 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55798656 55798656 G A SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known silent c.762 p.A254 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 160 0 0 78 32 29.0909 OR8H2 0 genome.wustl.edu 37 11 55873182 55873182 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55873182 55873182 C A SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.664 p.L222I 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 162 0 0 114 47 29.1925 OR8J3 0 genome.wustl.edu 37 11 55904703 55904703 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55904703 55904703 G T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.492 p.F164L 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 93 0 0 55 27 32.9268 OR8K5 0 genome.wustl.edu 37 11 55927518 55927518 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55927518 55927518 A C SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known missense c.276 p.I92M 0.924 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 OR8K5 HGNC ENSG00000181752 144 0 0 86 47 35.3383 OR5T3 0 genome.wustl.edu 37 11 56020510 56020510 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56020510 56020510 A G SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.835 p.T279A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 189 0 0 115 48 29.4479 OR5T1 0 genome.wustl.edu 37 11 56043234 56043234 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56043234 56043234 T G SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.120 p.F40L 0.183 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 103 0 0 80 27 25.2336 OR8K1 0 genome.wustl.edu 37 11 56114034 56114034 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56114034 56114034 T G SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.520 p.F174V 0.859 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 161 0 0 109 65 37.3563 OR5R1 0 genome.wustl.edu 37 11 56185686 56185686 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56185686 56185686 T C SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.23 p.Y8C 0.026 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 143 0 0 88 32 26.6667 OR5R1 0 genome.wustl.edu 37 11 56185699 56185699 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56185699 56185699 C A SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.10 p.V4F 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 125 1 0.793651 85 30 26.087 OR5M9 0 genome.wustl.edu 37 11 56230298 56230298 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56230298 56230298 C A SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known nonsense c.580 p.E194* 0.096 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 62 0 0 41 11 21.1538 OR5M8 0 genome.wustl.edu 37 11 56258583 56258583 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56258583 56258583 C A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.264 p.K88N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 153 0 0 73 43 37.069 OR5M11 0 genome.wustl.edu 37 11 56310494 56310494 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56310494 56310494 C A SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known missense c.240 p.Q80H 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 123 0 0 66 19 22.3529 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5631384 5631384 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5631384 5631384 C A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.867 p.F289L 0.999 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 75 0 0 43 30 41.0959 TRIM6 0 genome.wustl.edu 37 11 5632597 5632597 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5632597 5632597 C T SNP TRIM6 ENST00000481603 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM6 HGNC ENSG00000121236 124 0 0 72 40 35.7143 OR5AR1 0 genome.wustl.edu 37 11 56432021 56432021 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 56432021 56432021 C T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.860 p.P287L 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 60 0 0 26 12 31.5789 APLNR 0 genome.wustl.edu 37 11 57003635 57003635 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 57003635 57003635 C T SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.844 p.D282N 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 53 0 0 35 12 25.5319 TRIM5 0 genome.wustl.edu 37 11 5701382 5701382 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5701382 5701382 A G SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known missense c.26 p.V9A 0.449 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 101 0 0 62 21 25.3012 SSRP1 0 genome.wustl.edu 37 11 57099296 57099296 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 57099296 57099296 G A SNP SSRP1 ENST00000278412 human ensembl 74_37 -1 known missense c.1069 p.R357W 1.000 pfam_SSRP1_dom,pfam_DUF1747,prints_SSrcognition pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 64 0 0 30 6 16.6667 TRIM22 0 genome.wustl.edu 37 11 5730393 5730393 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5730393 5730393 G T SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known missense c.1012 p.D338Y 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin 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 TRIM22 HGNC ENSG00000132274 149 0 0 96 31 24.4094 ZDHHC5 0 genome.wustl.edu 37 11 57456029 57456029 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 57456029 57456029 A C SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.276 p.K92N 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 103 0 0 40 28 41.1765 CTNND1 0 genome.wustl.edu 37 11 57576003 57576003 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 57576003 57576003 G T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known nonsense c.2233 p.E745* 0.993 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 81 0 0 45 24 34.7826 OR9I1 0 genome.wustl.edu 37 11 57886886 57886886 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 57886886 57886886 C T SNP OR9I1 ENST00000302610 human ensembl 74_37 -1 known missense c.31 p.E11K 0.124 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR9I1 HGNC ENSG00000172377 78 0 0 49 26 34.6667 OR9Q1 0 genome.wustl.edu 37 11 57947716 57947716 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 57947716 57947716 C T SNP OR9Q1 ENST00000335397 human ensembl 74_37 +1 known missense c.800 p.S267L 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC ENSG00000186509 169 1 0.588235 81 53 39.5522 OR10W1 0 genome.wustl.edu 37 11 58035240 58035240 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58035240 58035240 T C SNP OR10W1 ENST00000395079 human ensembl 74_37 -1 known missense c.91 p.T31A 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 82 0 0 61 29 32.2222 OR52N1 0 genome.wustl.edu 37 11 5809177 5809177 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5809177 5809177 C A SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.870 p.M290I 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 87 0 0 26 57 68.6747 OR5B12 0 genome.wustl.edu 37 11 58207072 58207072 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58207072 58207072 G T SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.553 p.L185I 0.956 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 81 0 0 47 21 30.8824 OR5B12 0 genome.wustl.edu 37 11 58207297 58207297 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58207297 58207297 T A SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.328 p.S110C 0.202 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 120 0 0 65 38 36.8932 ZFP91 0 genome.wustl.edu 37 11 58377501 58377501 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58377501 58377501 A G SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known missense c.569 p.Q190R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 72 0 0 63 5 7.35294 GLYAT 0 genome.wustl.edu 37 11 58477342 58477342 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58477342 58477342 G A SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known missense c.788 p.S263F 0.772 pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 115 0 0 73 24 24.7423 GLYATL2 0 genome.wustl.edu 37 11 58604789 58604789 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58604789 58604789 A G SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known missense c.268 p.S90P 0.000 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 153 0 0 86 51 37.2263 OR52E8 0 genome.wustl.edu 37 11 5878752 5878752 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5878752 5878752 G A SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.181 p.L61F 1.000 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 OR52E8 HGNC ENSG00000183269 219 0 0 129 37 22.2892 FAM111A 0 genome.wustl.edu 37 11 58920482 58920482 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58920482 58920482 A C SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known missense c.1341 p.E447D 0.008 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 130 0 0 75 41 35.3448 FAM111A 0 genome.wustl.edu 37 11 58920784 58920784 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58920784 58920784 C A SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known nonsense c.1643 p.S548* 0.609 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 209 0 0 134 48 26.3736 MPEG1 0 genome.wustl.edu 37 11 58979109 58979109 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58979109 58979109 G T SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1230 p.F410L 0.994 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 100 0 0 80 8 9.09091 MPEG1 0 genome.wustl.edu 37 11 58979454 58979454 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 58979454 58979454 A G SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known silent c.885 p.G295 0.761 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 35 0 0 12 9 42.8571 OR52E4 0 genome.wustl.edu 37 11 5905807 5905807 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5905807 5905807 C A SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.285 p.S95R 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 169 0 0 89 42 32.0611 OR52E4 0 genome.wustl.edu 37 11 5906275 5906275 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 5906275 5906275 C A SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known nonsense c.753 p.C251* 0.793 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 187 0 0 92 36 28.125 OR4D11 0 genome.wustl.edu 37 11 59271687 59271687 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 59271687 59271687 C T SNP OR4D11 ENST00000313253 human ensembl 74_37 +1 known silent c.639 p.F213 0.786 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 257 0 0 128 64 33.3333 OR4D9 0 genome.wustl.edu 37 11 59282741 59282741 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 59282741 59282741 C T SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known missense c.356 p.A119V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 126 0 0 65 46 41.4414 OR4D9 0 genome.wustl.edu 37 11 59282896 59282896 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 59282896 59282896 C T SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known missense c.511 p.P171S 0.359 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 242 0 0 114 48 29.6296 MRPL16 0 genome.wustl.edu 37 11 59575228 59575228 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 59575228 59575228 T C SNP MRPL16 ENST00000300151 human ensembl 74_37 -1 known missense c.216 p.I72M 0.995 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 333 0 0 183 113 38.1757 GIF 0 genome.wustl.edu 37 11 59603299 59603299 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 59603299 59603299 C T SNP GIF ENST00000257248 human ensembl 74_37 -1 known missense c.1055 p.R352H 0.998 NULL pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 216 1 0.460829 87 71 44.9367 MS4A7 0 genome.wustl.edu 37 11 60156897 60156897 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60156897 60156897 C A SNP MS4A7 ENST00000300184 human ensembl 74_37 +1 known missense c.374 p.S125Y 0.002 pfam_CD20-like pfam_CD20-like - no_errors MS4A7 HGNC ENSG00000166927 82 0 0 43 9 17.3077 MS4A7 0 genome.wustl.edu 37 11 60157046 60157046 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60157046 60157046 C T SNP MS4A7 ENST00000300184 human ensembl 74_37 +1 known missense c.523 p.L175F 0.287 pfam_CD20-like pfam_CD20-like - no_errors MS4A7 HGNC ENSG00000166927 125 0 0 61 21 25.6098 MS4A13 0 genome.wustl.edu 37 11 60296873 60296873 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60296873 60296873 C A SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known missense c.342 p.F114L 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 71 0 0 49 19 27.9412 MS4A13 0 genome.wustl.edu 37 11 60309995 60309995 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60309995 60309995 C T SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known nonsense c.406 p.R136* 0.000 NULL pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 37 0 0 17 9 34.6154 OR56A1 0 genome.wustl.edu 37 11 6048000 6048000 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6048000 6048000 T G SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.935 p.K312T 0.058 pfam_7TM_GPCR_olfarory/Srsx pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 88 0 0 33 27 45 MS4A10 0 genome.wustl.edu 37 11 60559761 60559761 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60559761 60559761 G A SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known silent c.327 p.A109 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 195 0 0 102 37 26.6187 PRPF19 0 genome.wustl.edu 37 11 60665619 60665619 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60665619 60665619 C T SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known missense c.1265 p.R422H 1.000 superfamily_WD40_repeat_dom,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 108 0 0 57 32 35.9551 SLC15A3 0 genome.wustl.edu 37 11 60708685 60708685 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 60708685 60708685 G C SNP SLC15A3 ENST00000227880 human ensembl 74_37 -1 known missense c.1185 p.D395E 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC ENSG00000110446 50 0 0 14 10 41.6667 VWCE 0 genome.wustl.edu 37 11 61032439 61032439 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 61032439 61032439 A G SNP VWCE ENST00000335613 human ensembl 74_37 -1 known missense c.2128 p.C710R 0.892 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 160 0 0 55 28 33.7349 CYB561A3 0 genome.wustl.edu 37 11 61118518 61118518 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 61118518 61118518 A G SNP CYB561A3 ENST00000426130 human ensembl 74_37 -1 known missense c.701 p.I234T 0.868 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561A3 HGNC ENSG00000162144 57 0 0 28 13 31.7073 PPP1R32 0 genome.wustl.edu 37 11 61253289 61253289 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 61253289 61253289 C T SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known missense c.593 p.S198L 0.043 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 138 0 0 64 26 28.8889 TMEM258 0 genome.wustl.edu 37 11 61558069 61558069 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 61558069 61558069 G A SNP TMEM258 ENST00000257262 human ensembl 74_37 -1 known silent c.9 p.L3 0.944 pfam_UPF0197 pfam_UPF0197 - no_errors TMEM258 HGNC ENSG00000134825 38 0 0 19 11 36.6667 FADS3 0 genome.wustl.edu 37 11 61645986 61645986 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 61645986 61645986 C T SNP FADS3 ENST00000278829 human ensembl 74_37 -1 known missense c.745 p.E249K 0.999 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 174 0 0 86 24 21.8182 INCENP 0 genome.wustl.edu 37 11 61919280 61919280 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 61919280 61919280 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.2589 p.P863 0.009 pfam_Inner_centromere_prot_ARK-bd pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 147 0 0 72 30 29.4118 MTA2 0 genome.wustl.edu 37 11 62362466 62362466 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 62362466 62362466 G A SNP MTA2 ENST00000278823 human ensembl 74_37 -1 known silent c.1560 p.I520 0.991 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 336 0 0 156 70 30.9735 GANAB 0 genome.wustl.edu 37 11 62402472 62402472 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 62402472 62402472 C T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known silent c.381 p.R127 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 128 0 0 47 38 44.7059 METTL12 0 genome.wustl.edu 37 11 62433962 62433962 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 62433962 62433962 C A SNP METTL12 ENST00000532971 human ensembl 74_37 +1 known missense c.162 p.F54L 1.000 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 165 0 0 77 34 30.6306 HNRNPUL2 0 genome.wustl.edu 37 11 62484514 62484514 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 62484514 62484514 C T SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known missense c.1928 p.R643Q 0.981 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 117 0 0 51 27 34.6154 STX5 0 genome.wustl.edu 37 11 62594857 62594857 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 62594857 62594857 C A SNP STX5 ENST00000294179 human ensembl 74_37 -1 known missense c.310 p.D104Y 1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX5 HGNC ENSG00000162236 256 0 0 136 48 26.087 CNGA4 0 genome.wustl.edu 37 11 6261346 6261346 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6261346 6261346 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.322 p.R108C 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 237 0 0 113 58 33.9181 CCKBR 0 genome.wustl.edu 37 11 6290930 6290930 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6290930 6290930 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.183 p.Y61 0.738 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 155 1 0.641026 76 35 31.5315 CCKBR 0 genome.wustl.edu 37 11 6291065 6291065 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6291065 6291065 T G SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.318 p.A106 1.000 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_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 163 0 0 84 29 25.6637 SLC22A9 0 genome.wustl.edu 37 11 63137605 63137605 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 63137605 63137605 T G SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.77 p.I26S 0.001 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 219 0 0 124 47 27.4854 RARRES3 0 genome.wustl.edu 37 11 63312441 63312441 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 63312441 63312441 A C SNP RARRES3 ENST00000439013 human ensembl 74_37 +1 putative missense c.467 p.E156A 0.000 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 93 0 0 65 22 25.2874 RARRES3 0 genome.wustl.edu 37 11 63313629 63313629 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 63313629 63313629 G A SNP RARRES3 ENST00000255688 human ensembl 74_37 +1 known silent c.396 p.K132 0.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 327 0 0 142 90 38.7931 RTN3 0 genome.wustl.edu 37 11 63487738 63487738 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 63487738 63487738 G A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known silent c.1764 p.T588 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 178 0 0 98 46 31.9444 MARK2 0 genome.wustl.edu 37 11 63667549 63667549 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 63667549 63667549 C T SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known silent c.735 p.S245 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 322 2 0.617284 136 79 36.7442 STIP1 0 genome.wustl.edu 37 11 63961954 63961954 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 63961954 63961954 G T SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known missense c.365 p.R122I 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 138 0 0 60 21 25.9259 PLCB3 0 genome.wustl.edu 37 11 64029069 64029069 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 64029069 64029069 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known silent c.1845 p.F615 0.846 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 151 0 0 54 35 39.3258 SMPD1 0 genome.wustl.edu 37 11 6412632 6412632 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6412632 6412632 C T SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known missense c.337 p.R113C 0.312 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 93 0 0 40 13 24.5283 SMPD1 0 genome.wustl.edu 37 11 6414487 6414487 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6414487 6414487 G A SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known missense c.1133 p.R378H 1.000 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 61 0 0 21 14 40 NRXN2 0 genome.wustl.edu 37 11 64398002 64398002 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 64398002 64398002 T C SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3629 p.D1210G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 90 0 0 41 24 36.9231 SF1 0 genome.wustl.edu 37 11 64536783 64536783 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 64536783 64536783 C T SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.691 p.E231K 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 157 0 0 72 40 35.7143 NAALADL1 0 genome.wustl.edu 37 11 64820878 64820878 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 64820878 64820878 G T SNP NAALADL1 ENST00000340252 human ensembl 74_37 -1 putative missense c.1163 p.P388Q 0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 44 0 0 14 15 51.7241 ZNHIT2 0 genome.wustl.edu 37 11 64883942 64883942 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 64883942 64883942 C A SNP ZNHIT2 ENST00000310597 human ensembl 74_37 -1 known missense c.1184 p.R395I 0.416 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT2 HGNC ENSG00000174276 231 0 0 86 57 39.8601 ENSG00000255200 0 genome.wustl.edu 37 11 64942656 64942656 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 64942656 64942656 G T SNP ENSG00000255200 ENST00000534819 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AP003068.18 Clone_based_vega_gene ENSG00000255200 222 0 0 132 38 22.3529 ARFIP2 0 genome.wustl.edu 37 11 6500092 6500092 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6500092 6500092 C T SNP ARFIP2 ENST00000254584 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfscan_AH_dom - no_errors ARFIP2 HGNC ENSG00000132254 72 0 0 33 12 26.6667 POLA2 0 genome.wustl.edu 37 11 65046230 65046230 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65046230 65046230 G A SNP POLA2 ENST00000265465 human ensembl 74_37 +1 known missense c.491 p.R164Q 0.683 pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 234 0 0 127 53 29.4444 DPF2 0 genome.wustl.edu 37 11 65109022 65109022 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65109022 65109022 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known nonsense c.454 p.R152* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 83 0 0 60 15 20 MALAT1 0 genome.wustl.edu 37 11 65269454 65269454 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65269454 65269454 G A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors MALAT1 HGNC ENSG00000251562 39 0 0 23 19 45.2381 MALAT1 0 genome.wustl.edu 37 11 65273714 65273714 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65273714 65273714 C A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 64 0 0 29 17 36.9565 EHBP1L1 0 genome.wustl.edu 37 11 65350612 65350612 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65350612 65350612 G T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2469 p.E823D 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 63 0 0 34 20 37.037 MAP3K11 0 genome.wustl.edu 37 11 65380788 65380788 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65380788 65380788 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.440 p.R147H 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 122 0 0 48 33 40.7407 DNHD1 0 genome.wustl.edu 37 11 6540971 6540971 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6540971 6540971 G A SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.1534 p.A512T 0.404 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 103 0 0 53 20 27.3973 SART1 0 genome.wustl.edu 37 11 65745317 65745317 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65745317 65745317 G A SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.2119 p.D707N 0.944 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 49 0 0 18 11 37.931 SF3B2 0 genome.wustl.edu 37 11 65826323 65826323 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 65826323 65826323 G A SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.989 p.R330Q 0.993 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 77 0 0 51 18 26.087 DNHD1 0 genome.wustl.edu 37 11 6588290 6588290 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6588290 6588290 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known nonsense c.11551 p.R3851* 0.535 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 121 0 0 63 35 35.7143 DNHD1 0 genome.wustl.edu 37 11 6591310 6591310 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6591310 6591310 C G SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.12935 p.A4312G 0.001 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 118 0 0 69 18 20.6897 SLC29A2 0 genome.wustl.edu 37 11 66136541 66136541 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 66136541 66136541 G A SNP SLC29A2 ENST00000541567 human ensembl 74_37 -1 known missense c.337 p.L113F 1.000 NULL NULL - no_errors SLC29A2 HGNC ENSG00000174669 20 0 0 6 3 33.3333 NPAS4 0 genome.wustl.edu 37 11 66192494 66192494 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 66192494 66192494 A C SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.2133 p.E711D 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 219 0 0 128 22 14.6667 CTSF 0 genome.wustl.edu 37 11 66334775 66334775 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 66334775 66334775 C T SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.549 p.M183I 0.204 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 185 0 0 101 39 27.8571 SPTBN2 0 genome.wustl.edu 37 11 66482842 66482842 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 66482842 66482842 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.334 p.R112W 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 83 0 0 25 19 43.1818 SYT12 0 genome.wustl.edu 37 11 66807670 66807670 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 66807670 66807670 C A SNP SYT12 ENST00000393946 human ensembl 74_37 +1 known missense c.617 p.S206Y 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT12 HGNC ENSG00000173227 81 0 0 37 21 36.2069 CARNS1 0 genome.wustl.edu 37 11 67187257 67187257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 67187257 67187257 G A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.1061 p.R354Q 0.986 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 19 0 0 13 8 38.0952 NDUFV1 0 genome.wustl.edu 37 11 67378679 67378679 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 67378679 67378679 G A SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known splice_site c.913+1 e6+1 1.000 - - - no_errors NDUFV1 HGNC ENSG00000167792 94 0 0 30 18 37.5 OR2AG2 0 genome.wustl.edu 37 11 6789862 6789862 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6789862 6789862 G A SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known silent c.327 p.S109 0.001 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 117 0 0 68 27 28.4211 SUV420H1 0 genome.wustl.edu 37 11 67926444 67926444 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 67926444 67926444 G T SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1369 p.H457N 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 100 0 0 62 37 37.3737 OR6A2 0 genome.wustl.edu 37 11 6816380 6816380 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6816380 6816380 G T SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known missense c.560 p.S187Y 0.009 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 OR6A2 HGNC ENSG00000184933 154 0 0 89 55 38.1944 MTL5 0 genome.wustl.edu 37 11 68478501 68478501 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 68478501 68478501 G A SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.1175 p.S392F 1.000 pfam_CRC pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 70 0 0 38 14 26.9231 MTL5 0 genome.wustl.edu 37 11 68512569 68512569 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 68512569 68512569 T C SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.641 p.Q214R 1.000 superfamily_Thionin pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 66 0 0 56 22 28.2051 CPT1A 0 genome.wustl.edu 37 11 68579981 68579981 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 68579981 68579981 C T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.205 p.V69M 0.989 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 99 0 0 62 24 27.907 MRPL21 0 genome.wustl.edu 37 11 68663994 68663994 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 68663994 68663994 G A SNP MRPL21 ENST00000362034 human ensembl 74_37 -1 known nonsense c.385 p.R129* 1.000 tigrfam_Ribosomal_L21 tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 240 0 0 108 42 28 OR10A5 0 genome.wustl.edu 37 11 6867289 6867289 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6867289 6867289 G A SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known missense c.388 p.A130T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 265 0 0 118 59 33.3333 IGHMBP2 0 genome.wustl.edu 37 11 68676003 68676003 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 68676003 68676003 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.451 p.A151T 0.958 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 98 0 0 38 24 38.7097 MRGPRD 0 genome.wustl.edu 37 11 68747543 68747543 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 68747543 68747543 C T SNP MRGPRD ENST00000309106 human ensembl 74_37 -1 known missense c.913 p.E305K 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 128 0 0 74 33 30.8411 MYEOV 0 genome.wustl.edu 37 11 69063584 69063584 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 69063584 69063584 G T SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known nonsense c.667 p.E223* 0.001 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 140 0 0 44 32 42.1053 ZNF215 0 genome.wustl.edu 37 11 6977697 6977697 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 6977697 6977697 A G SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.1489 p.K497E 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 104 0 0 67 26 27.957 ANO1 0 genome.wustl.edu 37 11 70031744 70031744 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 70031744 70031744 C A SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known silent c.2637 p.I879 0.995 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 113 0 0 47 25 34.7222 ANO1 0 genome.wustl.edu 37 11 70031792 70031792 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 70031792 70031792 C T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known silent c.2685 p.I895 0.210 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 95 0 0 34 20 37.037 ZNF214 0 genome.wustl.edu 37 11 7021924 7021924 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 7021924 7021924 G T SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.990 p.F330L 0.946 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 ZNF214 HGNC ENSG00000149050 133 0 0 71 32 31.068 PPFIA1 0 genome.wustl.edu 37 11 70221149 70221149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 70221149 70221149 G A SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.3265 p.D1089N 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 66 0 0 39 11 22 SHANK2 0 genome.wustl.edu 37 11 70507809 70507809 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 70507809 70507809 G A SNP SHANK2 ENST00000449833 human ensembl 74_37 -1 known missense c.64 p.R22C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK2 HGNC ENSG00000162105 247 0 0 132 53 28.6486 NLRP14 0 genome.wustl.edu 37 11 7063729 7063729 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 7063729 7063729 G T SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.472 p.D158Y 0.000 superfamily_P-loop_NTPase 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 NLRP14 HGNC ENSG00000158077 114 0 0 66 26 28.2609 DHCR7 0 genome.wustl.edu 37 11 71150111 71150111 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71150111 71150111 G T SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.645 p.F215L 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 50 0 0 30 11 26.8293 KRTAP5-8 0 genome.wustl.edu 37 11 71249203 71249203 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71249203 71249203 C T SNP KRTAP5-8 ENST00000398534 human ensembl 74_37 +1 known silent c.102 p.C34 1.000 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 391 0 0 200 76 27.5362 NUMA1 0 genome.wustl.edu 37 11 71720125 71720125 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71720125 71720125 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.4946 p.R1649Q 0.990 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 83 0 0 31 16 34.0426 NUMA1 0 genome.wustl.edu 37 11 71726580 71726580 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71726580 71726580 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.1969 p.A657T 0.424 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 148 0 0 58 27 31.7647 FOLR3 0 genome.wustl.edu 37 11 71847003 71847003 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71847003 71847003 A G SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.5 p.D2G 0.006 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 258 0 0 141 60 29.8507 ENSG00000256518 0 genome.wustl.edu 37 11 71870559 71870559 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71870559 71870559 A G SNP ENSG00000256518 ENST00000542477 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors RP11-807H22.5 Clone_based_vega_gene ENSG00000256518 37 0 0 10 8 44.4444 FOLR2 0 genome.wustl.edu 37 11 71929627 71929627 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 71929627 71929627 A G SNP FOLR2 ENST00000449475 human ensembl 74_37 +1 putative missense c.50 p.D17G 0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 34 0 0 11 5 31.25 PDE2A 0 genome.wustl.edu 37 11 72290417 72290417 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 72290417 72290417 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.2267 p.R756H 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 80 0 0 31 12 27.907 PAAF1 0 genome.wustl.edu 37 11 73602177 73602177 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 73602177 73602177 T C SNP PAAF1 ENST00000310571 human ensembl 74_37 +1 known silent c.213 p.C71 1.000 NULL 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 PAAF1 HGNC ENSG00000175575 35 0 0 31 8 20.5128 C2CD3 0 genome.wustl.edu 37 11 73814566 73814566 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 73814566 73814566 A T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.2190 p.N730K 0.003 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 106 0 0 72 26 26.5306 SYT9 0 genome.wustl.edu 37 11 7439350 7439350 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 7439350 7439350 A G SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.1328 p.D443G 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 107 0 0 57 36 38.7097 RNF169 0 genome.wustl.edu 37 11 74521240 74521240 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 74521240 74521240 A C SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known missense c.588 p.E196D 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 71 0 0 60 21 25.9259 XRRA1 0 genome.wustl.edu 37 11 74563045 74563045 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 74563045 74563045 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1229 p.A410V 0.983 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 124 0 0 46 31 40.2597 XRRA1 0 genome.wustl.edu 37 11 74641361 74641361 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 74641361 74641361 T G SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.384 p.E128D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 9 0 0 8 3 27.2727 SLCO2B1 0 genome.wustl.edu 37 11 74913973 74913973 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 74913973 74913973 G A SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known silent c.1791 p.L597 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 216 0 0 92 50 35.2113 MOGAT2 0 genome.wustl.edu 37 11 75439872 75439872 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 75439872 75439872 G T SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known missense c.688 p.D230Y 0.998 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 176 0 0 59 33 35.8696 ACER3 0 genome.wustl.edu 37 11 76726121 76726121 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 76726121 76726121 T G SNP ACER3 ENST00000532485 human ensembl 74_37 +1 known missense c.559 p.L187V 0.998 pfam_Ceramidase pfam_Ceramidase - no_errors ACER3 HGNC ENSG00000078124 37 0 0 38 15 28.3019 MYO7A 0 genome.wustl.edu 37 11 76900472 76900472 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 76900472 76900472 C A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3587 p.S1196Y 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 121 0 0 45 25 35.7143 PAK1 0 genome.wustl.edu 37 11 77090406 77090406 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77090406 77090406 G A SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known missense c.319 p.L107F 1.000 pfam_CRIB_dom,superfamily_WASP_C,smart_CRIB_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 123 0 0 65 25 27.7778 RSF1 0 genome.wustl.edu 37 11 77412131 77412131 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77412131 77412131 C A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known nonsense c.2143 p.E715* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 113 0 0 73 43 37.069 RSF1 0 genome.wustl.edu 37 11 77412799 77412799 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77412799 77412799 G T SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.1475 p.S492Y 0.389 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 173 0 0 112 54 32.5301 RSF1 0 genome.wustl.edu 37 11 77524560 77524560 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77524560 77524560 G A SNP RSF1 ENST00000530604 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors RSF1 HGNC ENSG00000048649 71 0 0 47 25 34.7222 KCTD14 0 genome.wustl.edu 37 11 77727688 77727688 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77727688 77727688 C A SNP KCTD14 ENST00000353172 human ensembl 74_37 -1 known missense c.719 p.R240I 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 85 0 0 47 27 36.4865 USP35 0 genome.wustl.edu 37 11 77911746 77911746 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77911746 77911746 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.1089 p.S363 0.992 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 63 0 0 31 25 44.6429 USP35 0 genome.wustl.edu 37 11 77920554 77920554 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 77920554 77920554 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.1653 p.S551 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 48 0 0 42 21 33.3333 NARS2 0 genome.wustl.edu 37 11 78176991 78176991 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 78176991 78176991 G A SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known silent c.1095 p.F365 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 70 0 0 52 23 30.6667 TENM4 0 genome.wustl.edu 37 11 78369748 78369748 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 78369748 78369748 C A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.7665 p.K2555N 0.959 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 89 0 0 31 22 41.5094 TENM4 0 genome.wustl.edu 37 11 78412982 78412982 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 78412982 78412982 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4676 p.R1559Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 111 0 0 54 14 20.5882 TENM4 0 genome.wustl.edu 37 11 78413045 78413045 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 78413045 78413045 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4613 p.T1538I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 64 0 0 26 17 39.5349 TENM4 0 genome.wustl.edu 37 11 78440647 78440647 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 78440647 78440647 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.3180 p.R1060 0.985 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 133 0 0 54 27 33.3333 OR10A6 0 genome.wustl.edu 37 11 7949332 7949332 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 7949332 7949332 C T SNP OR10A6 ENST00000309838 human ensembl 74_37 -1 known missense c.878 p.R293Q 0.007 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 152 0 0 71 38 34.8624 OR10A6 0 genome.wustl.edu 37 11 7949936 7949936 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 7949936 7949936 T G SNP OR10A6 ENST00000309838 human ensembl 74_37 -1 known missense c.274 p.I92L 0.956 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 187 0 0 125 68 35.2332 PCF11 0 genome.wustl.edu 37 11 82877043 82877043 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 82877043 82877043 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known silent c.1104 p.S368 0.968 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 37 0 0 14 6 30 PCF11 0 genome.wustl.edu 37 11 82878277 82878277 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 82878277 82878277 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.1928 p.R643Q 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 135 0 0 67 40 37.3832 ENSG00000254551 0 genome.wustl.edu 37 11 82920708 82920708 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 82920708 82920708 G A SNP ENSG00000254551 ENST00000531869 human ensembl 74_37 -1 known rna NULL NULL 0.640 - - - no_errors RP11-727A23.7 Clone_based_vega_gene ENSG00000254551 20 0 0 9 5 35.7143 ANKRD42 0 genome.wustl.edu 37 11 82936079 82936079 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 82936079 82936079 G T SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.685 p.D229Y 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 97 0 0 53 18 25.3521 STK33 0 genome.wustl.edu 37 11 8413955 8413955 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 8413955 8413955 C T SNP STK33 ENST00000473980 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors STK33 HGNC ENSG00000130413 79 0 0 31 21 40.3846 STK33 0 genome.wustl.edu 37 11 8496386 8496386 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 8496386 8496386 C A SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.67 p.D23Y 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK33 HGNC ENSG00000130413 148 0 0 118 52 30.5882 DLG2 0 genome.wustl.edu 37 11 84996399 84996399 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 84996399 84996399 T G SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.51 p.E17D 1.000 pfam_L27_1,pfscan_L27 pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 83 0 0 67 19 22.093 TMEM126A 0 genome.wustl.edu 37 11 85365183 85365183 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 85365183 85365183 C T SNP TMEM126A ENST00000304511 human ensembl 74_37 +1 known nonsense c.163 p.R55* 1.000 pfam_DUF1370_TMEM126 pfam_DUF1370_TMEM126 - no_errors TMEM126A HGNC ENSG00000171202 197 1 0.505051 137 60 30.4569 SYTL2 0 genome.wustl.edu 37 11 85436442 85436442 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 85436442 85436442 G T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.2630 p.S877Y 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 129 0 0 77 39 33.6207 TMEM135 0 genome.wustl.edu 37 11 86947710 86947710 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 86947710 86947710 T C SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known missense c.493 p.Y165H 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 51 0 0 43 19 30.6452 ST5 0 genome.wustl.edu 37 11 8715670 8715670 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 8715670 8715670 T G SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.3387 p.K1129N 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 97 0 0 62 20 24.3902 ST5 0 genome.wustl.edu 37 11 8724176 8724176 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 8724176 8724176 C T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.2663 p.R888Q 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 111 0 0 60 33 35.4839 ST5 0 genome.wustl.edu 37 11 8739286 8739286 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 8739286 8739286 A G SNP ST5 ENST00000313726 human ensembl 74_37 -1 known splice_site c.1629+2 e4+2 1.000 - - - no_errors ST5 HGNC ENSG00000166444 81 0 0 34 14 29.1667 GRM5 0 genome.wustl.edu 37 11 88300351 88300351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 88300351 88300351 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2500 p.R834C 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 134 0 0 48 40 45.4545 TYR 0 genome.wustl.edu 37 11 88911375 88911375 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 88911375 88911375 A G SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.254 p.Y85C 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 76 0 0 34 17 33.3333 FOLH1B 0 genome.wustl.edu 37 11 89405123 89405123 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 89405123 89405123 G T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 117 0 0 65 33 33.6735 TRIM49 0 genome.wustl.edu 37 11 89537423 89537423 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 89537423 89537423 T C SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.215 p.K72R 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 94 0 0 65 17 20.7317 NRIP3 0 genome.wustl.edu 37 11 9007350 9007350 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 9007350 9007350 G T SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.470 p.S157Y 1.000 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 173 0 0 80 44 35.4839 SCUBE2 0 genome.wustl.edu 37 11 9051490 9051490 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 9051490 9051490 G T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.2444 p.S815Y 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_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 SCUBE2 HGNC ENSG00000175356 187 0 0 122 48 28.2353 DENND5A 0 genome.wustl.edu 37 11 9166618 9166618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 9166618 9166618 C A SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.3046 p.D1016Y 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 193 1 0.515464 104 34 24.6377 FAT3 0 genome.wustl.edu 37 11 92086173 92086173 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 92086173 92086173 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.895 p.E299K 0.996 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 91 0 0 39 27 40.9091 FAT3 0 genome.wustl.edu 37 11 92086393 92086393 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 92086393 92086393 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1115 p.V372A 0.743 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 45 0 0 18 17 48.5714 FAT3 0 genome.wustl.edu 37 11 92087946 92087946 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 92087946 92087946 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2668 p.D890N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 140 1 0.70922 84 40 32.2581 FAT3 0 genome.wustl.edu 37 11 92507255 92507255 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 92507255 92507255 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4244 p.I1415T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 67 0 0 27 23 46 FAT3 0 genome.wustl.edu 37 11 92532760 92532760 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 92532760 92532760 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6581 p.S2194Y 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 43 0 0 30 12 28.5714 FAT3 0 genome.wustl.edu 37 11 92577811 92577811 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 92577811 92577811 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11278 p.D3760N 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 26 0 0 10 8 44.4444 HEPHL1 0 genome.wustl.edu 37 11 93800819 93800819 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 93800819 93800819 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known silent c.966 p.V322 0.029 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 216 0 0 124 41 24.8485 AMOTL1 0 genome.wustl.edu 37 11 94554964 94554964 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 94554964 94554964 G A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.1390 p.D464N 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 142 0 0 74 28 27.451 ZNF143 0 genome.wustl.edu 37 11 9522663 9522663 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 9522663 9522663 C T SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known silent c.993 p.F331 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 155 0 0 82 30 26.7857 FAM76B 0 genome.wustl.edu 37 11 95512015 95512015 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 95512015 95512015 C T SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known missense c.799 p.D267N 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 68 0 0 41 17 29.3103 FAM76B 0 genome.wustl.edu 37 11 95512122 95512122 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 95512122 95512122 C T SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known splice_site c.693-1 e8-1 1.000 - - - no_errors FAM76B HGNC ENSG00000077458 42 0 0 27 18 40 FAM76B 0 genome.wustl.edu 37 11 95516362 95516362 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 95516362 95516362 C A SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known nonsense c.430 p.E144* 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 51 0 0 32 15 31.9149 SCYL2 0 genome.wustl.edu 37 12 100732689 100732689 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 100732689 100732689 C A SNP SCYL2 ENST00000360820 human ensembl 74_37 +1 known silent c.2529 p.L843 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SCYL2 HGNC ENSG00000136021 363 0 0 201 111 35.5769 SLC17A8 0 genome.wustl.edu 37 12 100806591 100806591 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 100806591 100806591 G A SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known silent c.1230 p.S410 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 198 0 0 105 41 28.0822 GAS2L3 0 genome.wustl.edu 37 12 101017768 101017768 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 101017768 101017768 G A SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known silent c.1185 p.P395 0.001 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 180 1 0.552486 101 50 33.1126 CLEC12A 0 genome.wustl.edu 37 12 10131996 10131996 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10131996 10131996 G A SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known silent c.282 p.E94 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 37 0 0 29 9 23.6842 ANO4 0 genome.wustl.edu 37 12 101381342 101381342 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 101381342 101381342 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.628 p.R210W 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 526 0 0 259 122 32.021 CLEC1B 0 genome.wustl.edu 37 12 10145803 10145803 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10145803 10145803 T C SNP CLEC1B ENST00000298527 human ensembl 74_37 -1 known missense c.629 p.N210S 0.012 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1B HGNC ENSG00000165682 259 0 0 142 79 35.7466 CLEC1B 0 genome.wustl.edu 37 12 10145850 10145850 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10145850 10145850 A C SNP CLEC1B ENST00000298527 human ensembl 74_37 -1 known missense c.582 p.N194K 0.990 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1B HGNC ENSG00000165682 173 0 0 86 37 30.0813 ENSG00000256803 0 genome.wustl.edu 37 12 10168146 10168146 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10168146 10168146 T G SNP ENSG00000256803 ENST00000544225 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-133L14.5 Clone_based_vega_gene ENSG00000256803 80 0 0 54 26 32.5 MYBPC1 0 genome.wustl.edu 37 12 102036355 102036355 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 102036355 102036355 A C SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.824 p.K275T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 24 0 0 18 4 18.1818 MYBPC1 0 genome.wustl.edu 37 12 102055019 102055019 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 102055019 102055019 G A SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.2011 p.D671N 1.000 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_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 37 0 0 19 16 45.7143 DRAM1 0 genome.wustl.edu 37 12 102313940 102313940 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 102313940 102313940 T C SNP DRAM1 ENST00000258534 human ensembl 74_37 +1 known silent c.633 p.G211 0.998 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 107 0 0 50 31 38.2716 CLEC1A 0 genome.wustl.edu 37 12 10233922 10233922 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10233922 10233922 G T SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known missense c.305 p.S102Y 0.995 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 115 0 0 77 35 31.25 CLEC7A 0 genome.wustl.edu 37 12 10282621 10282621 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10282621 10282621 C T SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.61 p.D21N 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 45 0 0 35 8 18.6047 PAH 0 genome.wustl.edu 37 12 103240677 103240677 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 103240677 103240677 G A SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.965 p.A322V 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 96 0 0 48 24 33.3333 TMEM52B 0 genome.wustl.edu 37 12 10339104 10339104 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10339104 10339104 A C SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.223 p.N75H 0.001 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 109 0 0 60 34 36.1702 GABARAPL1 0 genome.wustl.edu 37 12 10374410 10374410 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10374410 10374410 C A SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known missense c.313 p.L105M 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL1 HGNC ENSG00000139112 64 0 0 43 20 31.746 STAB2 0 genome.wustl.edu 37 12 103984697 103984697 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 103984697 103984697 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.104 p.S35Y 0.282 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 119 0 0 73 39 34.8214 STAB2 0 genome.wustl.edu 37 12 104049338 104049338 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 104049338 104049338 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.1713 p.L571 0.013 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 93 0 0 42 24 36.3636 STAB2 0 genome.wustl.edu 37 12 104089398 104089398 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 104089398 104089398 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3446 p.D1149G 0.939 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 132 0 0 81 30 27.027 STAB2 0 genome.wustl.edu 37 12 104098388 104098388 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 104098388 104098388 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3896 p.S1299Y 0.503 superfamily_Growth_fac_rcpt_N_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 49 0 0 30 11 26.8293 STAB2 0 genome.wustl.edu 37 12 104136216 104136216 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 104136216 104136216 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5915 p.N1972S 1.000 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 213 0 0 106 45 29.8013 HSP90B1 0 genome.wustl.edu 37 12 104326616 104326616 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 104326616 104326616 G T SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known nonsense c.307 p.E103* 1.000 pirsf_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 134 0 0 107 50 31.8471 EID3 0 genome.wustl.edu 37 12 104697977 104697977 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 104697977 104697977 G A SNP EID3 ENST00000527879 human ensembl 74_37 +1 known missense c.265 p.D89N 0.427 pfam_Nse4_C pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 155 0 0 88 49 35.7664 ALDH1L2 0 genome.wustl.edu 37 12 105462629 105462629 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 105462629 105462629 A C SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.462 p.F154L 0.994 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 73 0 0 61 26 29.8851 KIAA1033 0 genome.wustl.edu 37 12 105543428 105543428 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 105543428 105543428 C A SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.2550 p.F850L 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 62 0 0 54 20 27.027 NUAK1 0 genome.wustl.edu 37 12 106460770 106460770 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 106460770 106460770 C T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1796 p.R599H 1.000 NULL 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 - no_errors NUAK1 HGNC ENSG00000074590 77 0 0 40 21 34.4262 NUAK1 0 genome.wustl.edu 37 12 106461428 106461428 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 106461428 106461428 A C SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1138 p.S380A 0.996 NULL 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 - no_errors NUAK1 HGNC ENSG00000074590 149 0 0 79 27 25.4717 MTERFD3 0 genome.wustl.edu 37 12 107372416 107372416 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 107372416 107372416 T C SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known missense c.77 p.Y26C 0.001 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 85 0 0 60 26 30.2326 CRY1 0 genome.wustl.edu 37 12 107395696 107395696 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 107395696 107395696 A G SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known silent c.441 p.P147 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 129 0 0 81 36 30.7692 PRDM4 0 genome.wustl.edu 37 12 108128239 108128239 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 108128239 108128239 C T SNP PRDM4 ENST00000228437 human ensembl 74_37 -1 known silent c.2154 p.K718 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 246 0 0 144 68 32.0755 WSCD2 0 genome.wustl.edu 37 12 108626627 108626627 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 108626627 108626627 T G SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.1099 p.F367V 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 83 0 0 39 21 35 DAO 0 genome.wustl.edu 37 12 109283296 109283296 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 109283296 109283296 G T SNP DAO ENST00000228476 human ensembl 74_37 +1 known nonsense c.361 p.E121* 0.999 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 118 0 0 54 28 34.1463 TAS2R8 0 genome.wustl.edu 37 12 10958754 10958754 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10958754 10958754 G T SNP TAS2R8 ENST00000240615 human ensembl 74_37 -1 known missense c.826 p.L276I 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 56 0 0 46 21 31.3433 ACACB 0 genome.wustl.edu 37 12 109613808 109613808 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 109613808 109613808 A G SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.1289 p.D430G 0.000 pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 155 0 0 86 27 23.8938 ACACB 0 genome.wustl.edu 37 12 109613968 109613968 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 109613968 109613968 G T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.1337 p.R446I 0.900 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 443 0 0 285 126 30.6569 ACACB 0 genome.wustl.edu 37 12 109684234 109684234 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 109684234 109684234 A G SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5552 p.D1851G 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 92 0 0 63 29 31.5217 FOXN4 0 genome.wustl.edu 37 12 109719237 109719237 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 109719237 109719237 C T SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known silent c.1269 p.P423 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 139 0 0 66 25 27.4725 PRR4 0 genome.wustl.edu 37 12 10999769 10999769 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 10999769 10999769 G A SNP PRR4 ENST00000228811 human ensembl 74_37 -1 known missense c.298 p.R100C 0.000 NULL NULL - no_errors PRR4 HGNC ENSG00000111215 290 0 0 145 72 33.1797 TRPV4 0 genome.wustl.edu 37 12 110252352 110252352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 110252352 110252352 C T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.250 p.D84N 1.000 prints_TRPV4_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 75 0 0 35 11 23.913 ATP2A2 0 genome.wustl.edu 37 12 110780120 110780120 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 110780120 110780120 G A SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.2185 p.A729T 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 158 0 0 74 33 30.8411 MYL2 0 genome.wustl.edu 37 12 111352028 111352028 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 111352028 111352028 A C SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known missense c.236 p.F79C 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL2 HGNC ENSG00000111245 100 0 0 48 34 41.4634 MYL2 0 genome.wustl.edu 37 12 111356915 111356915 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 111356915 111356915 A C SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known missense c.86 p.F29C 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL2 HGNC ENSG00000111245 48 0 0 24 28 53.8462 CUX2 0 genome.wustl.edu 37 12 111749952 111749952 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 111749952 111749952 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.1949 p.A650V 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 41 0 0 16 7 30.4348 HECTD4 0 genome.wustl.edu 37 12 112667668 112667668 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 112667668 112667668 A C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5837 p.L1946R 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 52 0 0 36 13 26.5306 HECTD4 0 genome.wustl.edu 37 12 112721041 112721041 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 112721041 112721041 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.969 p.G323 0.003 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 52 0 0 28 17 37.7778 PTPN11 0 genome.wustl.edu 37 12 112939971 112939971 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 112939971 112939971 A C SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1623 p.E541D 1.000 pirsf_Tyr_Pase_non-rcpt_typ-6/11 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 115 0 0 77 38 33.0435 OAS1 0 genome.wustl.edu 37 12 113346601 113346601 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 113346601 113346601 C T SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known silent c.441 p.F147 0.473 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 158 0 0 85 36 29.7521 OAS3 0 genome.wustl.edu 37 12 113384669 113384669 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 113384669 113384669 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.758 p.R253Q 0.735 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 48 0 0 28 17 37.7778 OAS2 0 genome.wustl.edu 37 12 113416560 113416560 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 113416560 113416560 A G SNP OAS2 ENST00000342315 human ensembl 74_37 +1 known silent c.147 p.E49 0.000 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 74 0 0 40 10 20 PLBD2 0 genome.wustl.edu 37 12 113812324 113812324 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 113812324 113812324 G A SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known missense c.589 p.E197K 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 20 0 0 7 6 46.1538 PLBD2 0 genome.wustl.edu 37 12 113822728 113822728 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 113822728 113822728 G A SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known silent c.1191 p.V397 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 53 0 0 19 2 9.52381 ENSG00000257359 0 genome.wustl.edu 37 12 114374664 114374664 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 114374664 114374664 A C SNP ENSG00000257359 ENST00000550206 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-780K2.1 Clone_based_vega_gene ENSG00000257359 42 0 0 26 12 31.5789 TBX5 0 genome.wustl.edu 37 12 114832669 114832669 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 114832669 114832669 C T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known silent c.540 p.Q180 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 295 0 0 173 67 27.9167 PRB2 0 genome.wustl.edu 37 12 11546911 11546911 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 11546911 11546911 C T SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.101 p.G34E 0.000 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 251 0 0 103 54 34.3949 MED13L 0 genome.wustl.edu 37 12 116425055 116425055 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 116425055 116425055 G A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.3973 p.R1325C 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 64 0 0 31 24 43.6364 LINC00173 0 genome.wustl.edu 37 12 116972465 116972465 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 116972465 116972465 G A SNP LINC00173 ENST00000480237 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00173 HGNC ENSG00000196668 93 0 0 42 17 28.8136 C12orf49 0 genome.wustl.edu 37 12 117158242 117158242 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 117158242 117158242 G A SNP C12orf49 ENST00000547630 human ensembl 74_37 -1 known missense c.122 p.A41V 1.000 NULL NULL - no_errors C12orf49 HGNC ENSG00000111412 197 0 0 117 56 32.3699 NOS1 0 genome.wustl.edu 37 12 117685282 117685282 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 117685282 117685282 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.2694 p.C898 0.923 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 125 0 0 42 17 28.8136 NOS1 0 genome.wustl.edu 37 12 117691546 117691546 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 117691546 117691546 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known nonsense c.2545 p.R849* 1.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 113 0 0 67 34 33.6634 NOS1 0 genome.wustl.edu 37 12 117723132 117723132 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 117723132 117723132 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1296 p.F432 0.993 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 45 0 0 18 8 30.7692 RFC5 0 genome.wustl.edu 37 12 118467596 118467596 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 118467596 118467596 C T SNP RFC5 ENST00000454402 human ensembl 74_37 +1 known nonsense c.892 p.R298* 1.000 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 138 0 0 109 45 29.2208 SUDS3 0 genome.wustl.edu 37 12 118828948 118828948 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 118828948 118828948 A C SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known silent c.381 p.R127 1.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 105 0 0 90 9 9.09091 CCDC60 0 genome.wustl.edu 37 12 119943093 119943093 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 119943093 119943093 G T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known nonsense c.868 p.E290* 0.866 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 204 0 0 110 55 33.3333 PRKAB1 0 genome.wustl.edu 37 12 120118142 120118142 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 120118142 120118142 C T SNP PRKAB1 ENST00000537057 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRKAB1 HGNC ENSG00000111725 41 0 0 16 8 33.3333 CIT 0 genome.wustl.edu 37 12 120128041 120128041 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 120128041 120128041 C T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5975 p.R1992Q 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 45 0 0 21 7 25 CIT 0 genome.wustl.edu 37 12 120204980 120204980 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 120204980 120204980 C T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.2089 p.E697K 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 194 0 0 102 45 30.6122 MSI1 0 genome.wustl.edu 37 12 120795629 120795629 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 120795629 120795629 T C SNP MSI1 ENST00000257552 human ensembl 74_37 -1 known missense c.524 p.N175S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 49 0 0 26 13 33.3333 ACADS 0 genome.wustl.edu 37 12 121175984 121175984 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 121175984 121175984 T C SNP ACADS ENST00000411593 human ensembl 74_37 +1 novel missense c.605 p.L202P 0.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom - no_errors ACADS HGNC ENSG00000122971 25 0 0 15 3 16.6667 OASL 0 genome.wustl.edu 37 12 121458569 121458569 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 121458569 121458569 G A SNP OASL ENST00000257570 human ensembl 74_37 -1 known missense c.1340 p.A447V 0.287 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 156 0 0 77 38 33.0435 ENSG00000201945 0 genome.wustl.edu 37 12 121544906 121544906 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 121544906 121544906 A C SNP ENSG00000201945 ENST00000365075 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors SNORA70 RFAM ENSG00000201945 72 0 0 43 12 21.8182 P2RX4 0 genome.wustl.edu 37 12 121666569 121666569 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 121666569 121666569 C T SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.647 p.S216L 0.008 pfam_P2X_purnocptor,prints_P2X4_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 173 0 0 84 45 34.8837 P2RX4 0 genome.wustl.edu 37 12 121666584 121666584 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 121666584 121666584 C T SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.662 p.A221V 0.104 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 172 0 0 79 39 33.0508 ENSG00000256742 0 genome.wustl.edu 37 12 122018824 122018824 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 122018824 122018824 A G SNP ENSG00000256742 ENST00000541574 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-941N14.1 Clone_based_vega_gene ENSG00000256742 177 0 0 71 26 26.8041 MORN3 0 genome.wustl.edu 37 12 122097145 122097145 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 122097145 122097145 T C SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known silent c.255 p.G85 0.113 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 144 0 0 64 32 33.3333 LRRC43 0 genome.wustl.edu 37 12 122685454 122685454 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 122685454 122685454 G A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.1782 p.L594 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 94 0 0 54 26 32.5 VPS33A 0 genome.wustl.edu 37 12 122748207 122748207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 122748207 122748207 G A SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known missense c.208 p.R70C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 61 0 0 45 21 31.8182 CLIP1 0 genome.wustl.edu 37 12 122757586 122757586 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 122757586 122757586 A C SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.4153 p.F1385V 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 88 0 0 55 16 22.5352 RSRC2 0 genome.wustl.edu 37 12 123001843 123001843 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123001843 123001843 G A SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known missense c.533 p.S178F 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 153 0 0 86 49 36.2963 KNTC1 0 genome.wustl.edu 37 12 123075984 123075984 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123075984 123075984 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.4229 p.R1410H 0.859 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 196 0 0 125 64 33.8624 KNTC1 0 genome.wustl.edu 37 12 123097759 123097759 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123097759 123097759 A C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.5723 p.K1908T 0.998 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 129 0 0 62 38 38 HCAR2 0 genome.wustl.edu 37 12 123186857 123186857 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123186857 123186857 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.974 p.R325H 0.952 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 217 0 0 155 19 10.9195 HCAR3 0 genome.wustl.edu 37 12 123200148 123200148 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123200148 123200148 C A SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known missense c.1137 p.E379D 0.001 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 214 0 0 127 57 30.9783 HCAR3 0 genome.wustl.edu 37 12 123200311 123200311 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123200311 123200311 C T SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known missense c.974 p.R325H 0.974 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 55 0 0 30 11 26.8293 HCAR1 0 genome.wustl.edu 37 12 123214130 123214130 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123214130 123214130 C T SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known missense c.757 p.D253N 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 144 0 0 67 26 27.957 HIP1R 0 genome.wustl.edu 37 12 123333139 123333139 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123333139 123333139 G A SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known missense c.284 p.R95Q 1.000 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 106 0 0 42 28 40 ARL6IP4 0 genome.wustl.edu 37 12 123467128 123467128 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123467128 123467128 T G SNP ARL6IP4 ENST00000392435 human ensembl 74_37 +1 known missense c.1012 p.L338V 0.002 NULL pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 130 0 0 67 4 5.6338 MPHOSPH9 0 genome.wustl.edu 37 12 123649915 123649915 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123649915 123649915 C A SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known nonsense c.2245 p.E749* 0.996 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 132 0 0 85 46 35.1145 RILPL1 0 genome.wustl.edu 37 12 123984017 123984017 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 123984017 123984017 T G SNP RILPL1 ENST00000376874 human ensembl 74_37 -1 known missense c.527 p.E176A 1.000 pfam_JNK/Rab-associated_protein-1_N pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 109 0 0 44 31 41.3333 TMED2 0 genome.wustl.edu 37 12 124074954 124074954 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124074954 124074954 G A SNP TMED2 ENST00000262225 human ensembl 74_37 +1 known missense c.439 p.E147K 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 43 0 0 26 14 35 DNAH10 0 genome.wustl.edu 37 12 124257443 124257443 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124257443 124257443 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.276 p.E92D 0.948 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 167 0 0 85 56 39.7163 DNAH10 0 genome.wustl.edu 37 12 124323173 124323173 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124323173 124323173 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.4719 p.D1573 0.886 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 160 0 0 90 43 32.3308 DNAH10 0 genome.wustl.edu 37 12 124330340 124330340 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124330340 124330340 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.5200 p.D1734N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 158 0 0 86 30 25.8621 DNAH10 0 genome.wustl.edu 37 12 124333363 124333363 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124333363 124333363 C A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5682 p.L1894 0.336 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 36 0 0 27 11 28.9474 DNAH10 0 genome.wustl.edu 37 12 124345647 124345647 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124345647 124345647 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6484 p.D2162Y 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 62 0 0 41 6 12.766 DNAH10 0 genome.wustl.edu 37 12 124377783 124377783 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124377783 124377783 T G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.8645 p.I2882S 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 45 0 0 18 16 47.0588 DNAH10 0 genome.wustl.edu 37 12 124377848 124377848 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124377848 124377848 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.8710 p.L2904 0.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 87 0 0 41 28 40.5797 NCOR2 0 genome.wustl.edu 37 12 124870323 124870323 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 124870323 124870323 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1987 p.D663N 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 227 0 0 87 52 37.4101 AACS 0 genome.wustl.edu 37 12 125561052 125561052 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 125561052 125561052 A G SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.253 p.K85E 0.997 tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 209 0 0 128 8 5.88235 AACS 0 genome.wustl.edu 37 12 125613907 125613907 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 125613907 125613907 G A SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1450 p.E484K 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 270 0 0 136 71 34.2995 AACS 0 genome.wustl.edu 37 12 125626770 125626770 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 125626770 125626770 T G SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.2014 p.F672V 1.000 NULL pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 90 0 0 54 23 29.8701 DUSP16 0 genome.wustl.edu 37 12 12630251 12630251 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 12630251 12630251 C T SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known missense c.1514 p.R505Q 0.494 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 126 0 0 75 29 27.8846 FZD10 0 genome.wustl.edu 37 12 130648529 130648529 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 130648529 130648529 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.1042 p.E348K 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 88 0 0 35 26 42.623 MIR614 0 genome.wustl.edu 37 12 13068773 13068773 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 13068773 13068773 G A SNP MIR614 ENST00000385082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR614 HGNC ENSG00000207817 73 0 0 32 26 44.8276 STX2 0 genome.wustl.edu 37 12 131297517 131297517 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 131297517 131297517 G A SNP STX2 ENST00000392373 human ensembl 74_37 -1 known nonsense c.265 p.R89* 0.442 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 77 0 0 59 31 34.4444 RAN 0 genome.wustl.edu 37 12 131359262 131359262 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 131359262 131359262 G A SNP RAN ENST00000392369 human ensembl 74_37 +1 known missense c.419 p.R140Q 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,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,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 128 0 0 61 24 28.2353 GSG1 0 genome.wustl.edu 37 12 13237933 13237933 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 13237933 13237933 C T SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.991 p.D331N 0.927 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 13 0 0 1 2 66.6667 PUS1 0 genome.wustl.edu 37 12 132416843 132416843 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 132416843 132416843 G A SNP PUS1 ENST00000376649 human ensembl 74_37 +1 known missense c.427 p.A143T 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 48 0 0 34 22 39.2857 EP400 0 genome.wustl.edu 37 12 132464278 132464278 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 132464278 132464278 A C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.1483 p.S495R 0.002 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 52 0 0 25 7 21.875 EP400 0 genome.wustl.edu 37 12 132510285 132510285 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 132510285 132510285 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.5058 p.V1686 0.949 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 42 0 0 17 8 32 POLE 0 genome.wustl.edu 37 12 133209378 133209378 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 133209378 133209378 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.6008 p.Y2003C 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 99 0 0 48 21 30.4348 POLE 0 genome.wustl.edu 37 12 133250289 133250289 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 133250289 133250289 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.1231 p.V411L 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 293 0 0 148 70 32.1101 ANKLE2 0 genome.wustl.edu 37 12 133311027 133311027 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 133311027 133311027 G T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.1835 p.A612D 0.922 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 188 1 0.529101 89 35 28.2258 ZNF268 0 genome.wustl.edu 37 12 133764590 133764590 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 133764590 133764590 C T SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.166 p.R56C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ENSG00000090612 14 0 0 11 3 21.4286 ATF7IP 0 genome.wustl.edu 37 12 14577784 14577784 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 14577784 14577784 A C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.935 p.K312T 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 98 0 0 59 39 39.7959 C12orf60 0 genome.wustl.edu 37 12 14976593 14976593 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 14976593 14976593 G T SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known missense c.724 p.A242S 0.000 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 56 0 0 40 8 16.6667 ART4 0 genome.wustl.edu 37 12 14995923 14995923 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 14995923 14995923 C T SNP ART4 ENST00000228936 human ensembl 74_37 -1 known missense c.125 p.R42K 0.217 NULL pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 33 0 0 14 11 44 ERP27 0 genome.wustl.edu 37 12 15073929 15073929 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 15073929 15073929 G A SNP ERP27 ENST00000266397 human ensembl 74_37 -1 known silent c.387 p.A129 0.003 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 123 0 0 64 33 34.0206 ERP27 0 genome.wustl.edu 37 12 15087795 15087795 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 15087795 15087795 G A SNP ERP27 ENST00000266397 human ensembl 74_37 -1 known missense c.328 p.R110C 0.457 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 109 0 0 67 32 32.3232 ARHGDIB 0 genome.wustl.edu 37 12 15103555 15103555 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 15103555 15103555 G A SNP ARHGDIB ENST00000228945 human ensembl 74_37 -1 known missense c.92 p.S31F 1.000 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIB HGNC ENSG00000111348 159 0 0 89 38 29.9213 EPS8 0 genome.wustl.edu 37 12 15793747 15793747 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 15793747 15793747 G A SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known nonsense c.1711 p.R571* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 116 0 0 73 43 37.069 PIK3C2G 0 genome.wustl.edu 37 12 18552625 18552625 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 18552625 18552625 T G SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.2159 p.F720C 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 55 0 0 57 27 32.1429 LRTM2 0 genome.wustl.edu 37 12 1943890 1943890 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 1943890 1943890 G A SNP LRTM2 ENST00000543730 human ensembl 74_37 +1 putative rna NULL NULL 0.033 - - - no_errors LRTM2 HGNC ENSG00000166159 48 0 0 29 15 34.0909 PLEKHA5 0 genome.wustl.edu 37 12 19459655 19459655 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 19459655 19459655 G A SNP PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors PLEKHA5 HGNC ENSG00000052126 69 0 0 49 22 30.9859 DCP1B 0 genome.wustl.edu 37 12 2058449 2058449 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 2058449 2058449 A G SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.1576 p.S526P 0.995 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 87 0 0 37 15 28.8462 SLCO1B3 0 genome.wustl.edu 37 12 21033812 21033812 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 21033812 21033812 T C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1355 p.V452A 0.037 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 112 0 0 82 40 32.7869 SLCO1B1 0 genome.wustl.edu 37 12 21355460 21355460 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 21355460 21355460 T C SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1171 p.F391L 0.070 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 SLCO1B1 HGNC ENSG00000134538 30 0 0 33 16 32.6531 SLCO1B1 0 genome.wustl.edu 37 12 21392082 21392082 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 21392082 21392082 T G SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.2035 p.F679V 0.001 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 89 0 0 83 41 33.0645 PYROXD1 0 genome.wustl.edu 37 12 21602535 21602535 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 21602535 21602535 G A SNP PYROXD1 ENST00000240651 human ensembl 74_37 +1 known silent c.324 p.K108 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 36 0 0 18 15 45.4545 LDHB 0 genome.wustl.edu 37 12 21807557 21807557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 21807557 21807557 C T SNP LDHB ENST00000350669 human ensembl 74_37 -1 known missense c.49 p.A17T 0.900 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHB HGNC ENSG00000111716 150 0 0 99 37 27.2059 CMAS 0 genome.wustl.edu 37 12 22214262 22214262 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 22214262 22214262 T A SNP CMAS ENST00000229329 human ensembl 74_37 +1 known missense c.836 p.V279D 1.000 superfamily_HAD-like_dom pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 115 0 0 83 37 30.8333 CACNA1C 0 genome.wustl.edu 37 12 2224703 2224703 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 2224703 2224703 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.363 p.V121 0.001 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 59 0 0 44 23 34.3284 C2CD5 0 genome.wustl.edu 37 12 22623827 22623827 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 22623827 22623827 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known missense c.2377 p.A793T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 50 0 0 45 14 23.7288 C2CD5 0 genome.wustl.edu 37 12 22676481 22676481 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 22676481 22676481 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known missense c.679 p.D227N 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 91 0 0 66 43 39.4495 SOX5 0 genome.wustl.edu 37 12 24048769 24048769 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 24048769 24048769 C T SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.228 p.E76 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 350 0 0 208 86 29.2517 BCAT1 0 genome.wustl.edu 37 12 24995140 24995140 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 24995140 24995140 A C SNP BCAT1 ENST00000261192 human ensembl 74_37 -1 known silent c.693 p.L231 0.944 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 45 0 0 40 16 28.5714 C12orf77 0 genome.wustl.edu 37 12 25148944 25148944 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 25148944 25148944 G A SNP C12orf77 ENST00000549828 human ensembl 74_37 -1 known silent c.204 p.N68 0.000 NULL NULL - no_errors C12orf77 HGNC ENSG00000226397 61 0 0 33 15 31.25 CASC1 0 genome.wustl.edu 37 12 25264706 25264706 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 25264706 25264706 C A SNP CASC1 ENST00000395987 human ensembl 74_37 -1 known missense c.1779 p.K593N 0.989 NULL pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 58 0 0 32 15 31.9149 CASC1 0 genome.wustl.edu 37 12 25297436 25297436 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 25297436 25297436 C A SNP CASC1 ENST00000395987 human ensembl 74_37 -1 known missense c.865 p.D289Y 0.000 pfam_Casc1_domain pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 186 0 0 108 55 33.7423 KRAS 0 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 25378562 25378562 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.436 p.A146T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 96 0 0 71 29 29 CACNA1C 0 genome.wustl.edu 37 12 2602492 2602492 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 2602492 2602492 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.1053 p.F351 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 306 0 0 134 86 39.0909 BHLHE41 0 genome.wustl.edu 37 12 26276620 26276620 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 26276620 26276620 T G SNP BHLHE41 ENST00000242728 human ensembl 74_37 -1 known missense c.289 p.K97Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE41 HGNC ENSG00000123095 168 0 0 94 51 35.1724 ITPR2 0 genome.wustl.edu 37 12 26596550 26596550 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 26596550 26596550 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.6376 p.L2126F 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 75 0 0 40 21 34.4262 ITPR2 0 genome.wustl.edu 37 12 26752221 26752221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 26752221 26752221 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.3859 p.E1287K 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 221 0 0 139 59 29.798 ITPR2 0 genome.wustl.edu 37 12 26775334 26775334 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 26775334 26775334 C A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known nonsense c.3127 p.E1043* 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 34 0 0 26 9 25.7143 ITPR2 0 genome.wustl.edu 37 12 26811002 26811002 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 26811002 26811002 C A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known nonsense c.1948 p.E650* 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 64 0 0 47 20 29.8507 ASUN 0 genome.wustl.edu 37 12 27064188 27064188 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 27064188 27064188 G A SNP ASUN ENST00000261191 human ensembl 74_37 -1 known missense c.1868 p.S623L 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 110 0 0 86 40 31.746 ARNTL2 0 genome.wustl.edu 37 12 27533205 27533205 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 27533205 27533205 C T SNP ARNTL2 ENST00000266503 human ensembl 74_37 +1 known missense c.352 p.R118W 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL2 HGNC ENSG00000029153 97 0 0 58 27 31.7647 PPFIBP1 0 genome.wustl.edu 37 12 27813821 27813821 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 27813821 27813821 C T SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known silent c.909 p.I303 0.984 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 48 0 0 35 20 36.3636 PTHLH 0 genome.wustl.edu 37 12 28116612 28116612 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 28116612 28116612 C T SNP PTHLH ENST00000354417 human ensembl 74_37 -1 known missense c.193 p.A65T 0.991 pfam_PTH/PTH-rel,smart_PTH/PTH-rel pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 235 0 0 145 60 29.2683 LOC100506606 0 genome.wustl.edu 37 12 29446462 29446462 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 29446462 29446462 T G SNP LOC100506606 ENST00000553105 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-996F15.2 Clone_based_vega_gene ENSG00000257176 86 0 0 57 35 38.0435 FOXM1 0 genome.wustl.edu 37 12 2968582 2968582 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 2968582 2968582 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.1628 p.S543L 0.018 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 223 0 0 84 61 42.069 IPO8 0 genome.wustl.edu 37 12 30837302 30837302 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 30837302 30837302 C T SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.256 p.E86K 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 179 0 0 107 55 33.9506 CAPRIN2 0 genome.wustl.edu 37 12 30869579 30869579 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 30869579 30869579 C T SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.2327 p.R776Q 0.987 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 261 0 0 142 64 31.068 TEAD4 0 genome.wustl.edu 37 12 3149557 3149557 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 3149557 3149557 G A SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known silent c.1218 p.E406 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 92 0 0 41 20 32.7869 AMN1 0 genome.wustl.edu 37 12 31850304 31850304 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 31850304 31850304 C A SNP AMN1 ENST00000281471 human ensembl 74_37 -1 known missense c.582 p.K194N 1.000 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors AMN1 HGNC ENSG00000151743 84 0 0 55 26 32.0988 FGD4 0 genome.wustl.edu 37 12 32735043 32735043 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 32735043 32735043 A C SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.242 p.K81T 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 156 0 0 67 55 45.082 SLC6A13 0 genome.wustl.edu 37 12 331772 331772 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 331772 331772 C T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.1441 p.E481K 0.996 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 27 0 0 15 9 37.5 SYT10 0 genome.wustl.edu 37 12 33559799 33559799 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 33559799 33559799 A C SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1002 p.I334M 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 95 0 0 70 34 32.6923 SLC6A13 0 genome.wustl.edu 37 12 335650 335650 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 335650 335650 G A SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known silent c.966 p.S322 0.927 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 56 0 0 35 17 32.6923 CPNE8 0 genome.wustl.edu 37 12 39161514 39161514 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 39161514 39161514 C T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known silent c.498 p.A166 0.868 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 95 0 0 79 36 31.3043 KIF21A 0 genome.wustl.edu 37 12 39703566 39703566 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 39703566 39703566 G A SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.4102 p.R1368C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 39 0 0 21 12 36.3636 ABCD2 0 genome.wustl.edu 37 12 39998622 39998622 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 39998622 39998622 G A SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known silent c.1347 p.S449 0.000 superfamily_ABC1_TM_dom pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 91 0 0 91 35 27.7778 C12orf40 0 genome.wustl.edu 37 12 40076662 40076662 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 40076662 40076662 G A SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known silent c.936 p.E312 0.086 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 84 0 0 68 29 29.8969 LRRK2 0 genome.wustl.edu 37 12 40645114 40645114 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 40645114 40645114 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.1039 p.L347 0.047 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 40 0 0 21 16 43.2432 LRRK2 0 genome.wustl.edu 37 12 40681202 40681202 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 40681202 40681202 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.2550 p.S850 0.014 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 66 0 0 33 33 50 LRRK2 0 genome.wustl.edu 37 12 40715849 40715849 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 40715849 40715849 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5183 p.R1728H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 44 0 0 37 22 37.2881 CNTN1 0 genome.wustl.edu 37 12 41316077 41316077 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 41316077 41316077 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.247 p.D83N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 87 0 0 57 27 32.1429 CNTN1 0 genome.wustl.edu 37 12 41327516 41327516 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 41327516 41327516 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.821 p.R274Q 0.985 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 111 1 0.892857 85 35 29.1667 PDZRN4 0 genome.wustl.edu 37 12 41582289 41582289 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 41582289 41582289 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.32 p.A11V 0.318 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 18 0 0 9 10 52.6316 PDZRN4 0 genome.wustl.edu 37 12 41967456 41967456 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 41967456 41967456 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.2875 p.R959C 0.998 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 82 0 0 54 22 28.9474 GXYLT1 0 genome.wustl.edu 37 12 42512847 42512847 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 42512847 42512847 G A SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known silent c.441 p.F147 1.000 NULL pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 89 0 0 63 19 23.1707 PPHLN1 0 genome.wustl.edu 37 12 42836453 42836453 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 42836453 42836453 A G SNP PPHLN1 ENST00000395568 human ensembl 74_37 +1 known silent c.1035 p.G345 0.466 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 318 0 0 178 72 28.8 PRICKLE1 0 genome.wustl.edu 37 12 42854435 42854435 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 42854435 42854435 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1672 p.P558S 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 129 0 0 96 7 6.79612 KDM5A 0 genome.wustl.edu 37 12 430229 430229 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 430229 430229 C A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known nonsense c.2473 p.E825* 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 183 0 0 113 50 30.6748 KDM5A 0 genome.wustl.edu 37 12 432777 432777 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 432777 432777 C A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.2139 p.K713N 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 119 0 0 92 36 28.125 ADAMTS20 0 genome.wustl.edu 37 12 43771280 43771280 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 43771280 43771280 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4883 p.R1628Q 0.088 superfamily_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 47 0 0 33 9 21.4286 ADAMTS20 0 genome.wustl.edu 37 12 43777440 43777440 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 43777440 43777440 G T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4718 p.S1573Y 0.999 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 55 0 0 25 15 37.5 ADAMTS20 0 genome.wustl.edu 37 12 43840416 43840416 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 43840416 43840416 A C SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2179 p.F727V 1.000 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 55 0 0 28 15 34.8837 ADAMTS20 0 genome.wustl.edu 37 12 43847773 43847773 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 43847773 43847773 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.1697 p.S566N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 28 0 0 26 6 18.75 NELL2 0 genome.wustl.edu 37 12 44913847 44913847 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 44913847 44913847 G A SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.2491 p.R831C 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 99 0 0 51 25 32.8947 NELL2 0 genome.wustl.edu 37 12 44915858 44915858 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 44915858 44915858 G A SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known silent c.2250 p.C750 1.000 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 86 0 0 55 24 30.3797 NELL2 0 genome.wustl.edu 37 12 45173782 45173782 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 45173782 45173782 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.509 p.G170D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 155 0 0 91 38 29.4574 ANO6 0 genome.wustl.edu 37 12 45740823 45740823 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 45740823 45740823 G A SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.298 p.E100K 0.998 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 85 0 0 37 19 33.9286 SCAF11 0 genome.wustl.edu 37 12 46320292 46320292 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 46320292 46320292 A G SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known silent c.3192 p.G1064 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 109 0 0 68 33 32.6733 SCAF11 0 genome.wustl.edu 37 12 46320408 46320408 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 46320408 46320408 C A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known nonsense c.3076 p.E1026* 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 191 0 0 171 70 29.0456 SCAF11 0 genome.wustl.edu 37 12 46326965 46326965 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 46326965 46326965 C A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.683 p.R228I 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 88 0 0 57 21 26.9231 DYRK4 0 genome.wustl.edu 37 12 4716511 4716511 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 4716511 4716511 G A SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.973 p.A325T 0.000 pfam_Prot_kinase_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 DYRK4 HGNC ENSG00000010219 110 1 0.900901 52 25 32.4675 SLC38A4 0 genome.wustl.edu 37 12 47178396 47178396 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 47178396 47178396 A G SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.422 p.L141S 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 78 0 0 55 33 37.5 PCED1B 0 genome.wustl.edu 37 12 47629778 47629778 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 47629778 47629778 C T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.932 p.P311L 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 115 0 0 53 27 33.75 RPAP3 0 genome.wustl.edu 37 12 48096524 48096524 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 48096524 48096524 C A SNP RPAP3 ENST00000005386 human ensembl 74_37 -1 known missense c.100 p.D34Y 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 31 0 0 35 17 32.6923 COL2A1 0 genome.wustl.edu 37 12 48380929 48380929 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 48380929 48380929 A C SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.1297 p.F433V 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 151 0 0 42 30 41.6667 GALNT8 0 genome.wustl.edu 37 12 4855352 4855352 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 4855352 4855352 C A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.1101 p.F367L 0.994 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 131 0 0 84 24 22.2222 C12orf54 0 genome.wustl.edu 37 12 48881840 48881840 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 48881840 48881840 G T SNP C12orf54 ENST00000548913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C12orf54 HGNC ENSG00000177627 40 0 0 25 6 19.3548 OR8S1 0 genome.wustl.edu 37 12 48919915 48919915 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 48919915 48919915 C A SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known silent c.501 p.V167 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 152 0 0 90 27 23.0769 CCNT1 0 genome.wustl.edu 37 12 49087086 49087086 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 49087086 49087086 C T SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known silent c.1911 p.S637 0.985 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 103 0 0 55 27 32.9268 CCNT1 0 genome.wustl.edu 37 12 49099624 49099624 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 49099624 49099624 T G SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known missense c.299 p.K100T 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 94 0 0 48 31 39.2405 CCDC65 0 genome.wustl.edu 37 12 49298822 49298822 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 49298822 49298822 G T SNP CCDC65 ENST00000266984 human ensembl 74_37 +1 known nonsense c.226 p.E76* 1.000 NULL NULL - no_errors CCDC65 HGNC ENSG00000139537 103 0 0 76 36 32.1429 TUBA1B 0 genome.wustl.edu 37 12 49522457 49522457 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 49522457 49522457 G A SNP TUBA1B ENST00000336023 human ensembl 74_37 -1 known missense c.640 p.R214C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Beta_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 89 0 0 56 11 16.4179 MCRS1 0 genome.wustl.edu 37 12 49959911 49959911 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 49959911 49959911 C T SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.137 p.R46Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 183 0 0 71 44 38.2609 PRPF40B 0 genome.wustl.edu 37 12 50028234 50028234 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 50028234 50028234 A G SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.932 p.D311G 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 144 0 0 58 39 40.2062 NCKAP5L 0 genome.wustl.edu 37 12 50196943 50196943 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 50196943 50196943 C A SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.129 p.E43D 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 112 0 0 47 17 26.5625 KCNA1 0 genome.wustl.edu 37 12 5021705 5021705 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 5021705 5021705 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.1161 p.I387 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 539 0 0 279 128 31.4496 AQP5 0 genome.wustl.edu 37 12 50357924 50357924 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 50357924 50357924 C T SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.578 p.A193V 0.979 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_5,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 100 0 0 51 23 31.0811 LARP4 0 genome.wustl.edu 37 12 50860866 50860866 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 50860866 50860866 G T SNP LARP4 ENST00000429001 human ensembl 74_37 +1 known missense c.1526 p.R509M 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 70 0 0 50 32 39.0244 DIP2B 0 genome.wustl.edu 37 12 51069154 51069154 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 51069154 51069154 T G SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.839 p.L280R 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 75 0 0 57 31 35.2273 DIP2B 0 genome.wustl.edu 37 12 51133264 51133264 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 51133264 51133264 C A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4249 p.H1417N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 107 1 0.925926 83 21 20.1923 KCNA5 0 genome.wustl.edu 37 12 5154543 5154543 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 5154543 5154543 C A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.1230 p.I410 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 58 0 0 37 15 28.8462 DAZAP2 0 genome.wustl.edu 37 12 51636389 51636389 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 51636389 51636389 T C SNP DAZAP2 ENST00000549555 human ensembl 74_37 +1 known missense c.577 p.F193L 1.000 NULL pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 32 0 0 10 6 37.5 ANKRD33 0 genome.wustl.edu 37 12 52284396 52284396 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 52284396 52284396 T C SNP ANKRD33 ENST00000340970 human ensembl 74_37 +1 known silent c.291 p.V97 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 35 0 0 19 18 48.6486 KRT82 0 genome.wustl.edu 37 12 52799669 52799669 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 52799669 52799669 G A SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known silent c.393 p.F131 0.953 pfam_IF pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 499 0 0 276 139 33.494 KRT6B 0 genome.wustl.edu 37 12 52843820 52843820 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 52843820 52843820 C A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.792 p.E264D 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 209 0 0 159 14 8.09249 KRT6C 0 genome.wustl.edu 37 12 52862857 52862857 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 52862857 52862857 A G SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.1684 p.Y562H 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 122 0 0 64 33 34.0206 KRT6C 0 genome.wustl.edu 37 12 52865480 52865480 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 52865480 52865480 C A SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.792 p.E264D 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 157 0 0 119 33 21.7105 KRT1 0 genome.wustl.edu 37 12 53074020 53074020 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53074020 53074020 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.113 p.R38H 0.918 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 76 0 0 37 26 41.2698 KRT76 0 genome.wustl.edu 37 12 53170559 53170559 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53170559 53170559 C T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known missense c.517 p.D173N 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 96 0 0 49 24 32.8767 KRT4 0 genome.wustl.edu 37 12 53202570 53202570 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53202570 53202570 C T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.1121 p.R374H 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 145 0 0 71 40 36.036 CSAD 0 genome.wustl.edu 37 12 53564258 53564258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53564258 53564258 G A SNP CSAD ENST00000267085 human ensembl 74_37 -1 known missense c.677 p.A226V 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 104 0 0 62 26 29.5455 ESPL1 0 genome.wustl.edu 37 12 53680078 53680078 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53680078 53680078 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.3558 p.V1186 0.003 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 163 0 0 83 35 29.661 ESPL1 0 genome.wustl.edu 37 12 53687096 53687096 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53687096 53687096 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.6201 p.R2067 0.882 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 83 0 0 63 4 5.97015 MAP3K12 0 genome.wustl.edu 37 12 53880773 53880773 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 53880773 53880773 T C SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.304 p.I102V 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 105 0 0 58 28 32.5581 HOXC12 0 genome.wustl.edu 37 12 54350167 54350167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 54350167 54350167 G A SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known silent c.666 p.S222 0.997 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 231 0 0 111 64 36.5714 HOXC6 0 genome.wustl.edu 37 12 54423519 54423519 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 54423519 54423519 C A SNP HOXC6 ENST00000243108 human ensembl 74_37 +1 known missense c.481 p.H161N 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC6 HGNC ENSG00000197757 231 0 0 114 43 27.3885 HOXC5 0 genome.wustl.edu 37 12 54428171 54428171 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 54428171 54428171 C T SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known silent c.564 p.I188 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 140 0 0 72 45 38.4615 SMUG1 0 genome.wustl.edu 37 12 54575840 54575840 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 54575840 54575840 C T SNP SMUG1 ENST00000505662 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SMUG1 HGNC ENSG00000123415 131 0 0 56 25 30.8642 OR6C3 0 genome.wustl.edu 37 12 55725556 55725556 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 55725556 55725556 T G SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known missense c.72 p.I24M 0.968 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C3 HGNC ENSG00000205329 129 0 0 97 46 32.1678 OR6C70 0 genome.wustl.edu 37 12 55863404 55863404 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 55863404 55863404 A G SNP OR6C70 ENST00000327335 human ensembl 74_37 -1 known silent c.519 p.D173 0.994 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 OR6C70 HGNC ENSG00000184954 113 0 0 96 45 31.9149 OR6C68 0 genome.wustl.edu 37 12 55886733 55886733 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 55886733 55886733 C A SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known nonsense c.587 p.S196* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 70 0 0 39 20 33.8983 MMP19 0 genome.wustl.edu 37 12 56231717 56231717 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56231717 56231717 A G SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known missense c.970 p.F324L 0.318 superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 132 0 0 62 28 31.1111 MMP19 0 genome.wustl.edu 37 12 56235154 56235154 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56235154 56235154 C T SNP MMP19 ENST00000547487 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MMP19 HGNC ENSG00000123342 17 0 0 11 5 31.25 PMEL 0 genome.wustl.edu 37 12 56349139 56349139 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56349139 56349139 T G SNP PMEL ENST00000360714 human ensembl 74_37 -1 known missense c.1790 p.E597A 0.911 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 214 0 0 126 72 36.3636 PMEL 0 genome.wustl.edu 37 12 56349922 56349922 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56349922 56349922 C T SNP PMEL ENST00000360714 human ensembl 74_37 -1 known missense c.1436 p.R479Q 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 132 0 0 70 28 28.5714 ESYT1 0 genome.wustl.edu 37 12 56526515 56526515 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56526515 56526515 G A SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.1174 p.E392K 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 92 0 0 43 19 30.6452 SMARCC2 0 genome.wustl.edu 37 12 56559121 56559121 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56559121 56559121 A G SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.3120 p.V1040 0.995 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 123 1 0.806452 50 30 37.5 SLC39A5 0 genome.wustl.edu 37 12 56631136 56631136 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56631136 56631136 C T SNP SLC39A5 ENST00000419232 human ensembl 74_37 +1 known rna NULL NULL 0.807 - - - no_errors SLC39A5 HGNC ENSG00000139540 73 0 0 42 13 23.6364 ANKRD52 0 genome.wustl.edu 37 12 56648032 56648032 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56648032 56648032 G A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.725 p.A242V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 302 0 0 170 69 28.8703 STAT2 0 genome.wustl.edu 37 12 56740662 56740662 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56740662 56740662 C T SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.1802 p.R601H 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 136 0 0 68 33 32.6733 APOF 0 genome.wustl.edu 37 12 56755504 56755504 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56755504 56755504 G A SNP APOF ENST00000398189 human ensembl 74_37 -1 known silent c.486 p.V162 0.000 NULL NULL - no_errors APOF HGNC ENSG00000175336 27 0 0 25 4 13.7931 HSD17B6 0 genome.wustl.edu 37 12 57167906 57167906 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 57167906 57167906 C T SNP HSD17B6 ENST00000322165 human ensembl 74_37 +1 known silent c.270 p.I90 0.135 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 100 0 0 63 23 26.7442 HSD17B6 0 genome.wustl.edu 37 12 57180939 57180939 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 57180939 57180939 A C SNP HSD17B6 ENST00000322165 human ensembl 74_37 +1 known missense c.767 p.N256T 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 113 0 0 61 35 36.4583 MYO1A 0 genome.wustl.edu 37 12 57441820 57441820 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 57441820 57441820 G T SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.183 p.F61L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 87 0 0 44 20 31.25 PIP4K2C 0 genome.wustl.edu 37 12 57993209 57993209 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 57993209 57993209 C T SNP PIP4K2C ENST00000354947 human ensembl 74_37 +1 known silent c.687 p.S229 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC ENSG00000166908 77 0 0 43 20 31.746 ARHGEF25 0 genome.wustl.edu 37 12 58005727 58005727 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 58005727 58005727 G A SNP ARHGEF25 ENST00000286494 human ensembl 74_37 +1 known missense c.50 p.R17Q 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 25 0 0 21 5 19.2308 ARHGEF25 0 genome.wustl.edu 37 12 58010244 58010244 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 58010244 58010244 A G SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.1715 p.E572G 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 73 0 0 38 13 25.4902 SLC26A10 0 genome.wustl.edu 37 12 58015518 58015518 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 58015518 58015518 G A SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.601 p.E201K 0.997 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 26 0 0 13 7 35 B4GALNT1 0 genome.wustl.edu 37 12 58024083 58024083 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 58024083 58024083 G A SNP B4GALNT1 ENST00000552798 human ensembl 74_37 -1 known missense c.523 p.R175C 0.980 NULL NULL - no_errors B4GALNT1 HGNC ENSG00000135454 70 0 0 34 10 22.7273 CYP27B1 0 genome.wustl.edu 37 12 58159172 58159172 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 58159172 58159172 A G SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.497 p.V166A 0.704 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 31 0 0 7 5 41.6667 SLC16A7 0 genome.wustl.edu 37 12 60169004 60169004 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 60169004 60169004 C T SNP SLC16A7 ENST00000261187 human ensembl 74_37 +1 known nonsense c.928 p.R310* 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 154 0 0 96 52 35.1351 VWF 0 genome.wustl.edu 37 12 6058967 6058967 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6058967 6058967 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.8238 p.D2746 1.000 pirsf_VWF,smart_Cys_knot_C,pfscan_Cys_knot_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 150 0 0 76 33 30.2752 VWF 0 genome.wustl.edu 37 12 6132884 6132884 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6132884 6132884 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.3292 p.A1098T 0.137 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 34 0 0 31 12 27.907 VWF 0 genome.wustl.edu 37 12 6181527 6181527 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6181527 6181527 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.1079 p.G360D 0.946 pirsf_VWF,smart_VWC_out,smart_VWF_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 83 0 0 36 22 37.931 VWF 0 genome.wustl.edu 37 12 6232023 6232023 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6232023 6232023 C A SNP VWF ENST00000572068 human ensembl 74_37 -1 known missense c.34 p.D12Y 0.001 NULL pfam_VWF_type-D,smart_VWF_type-D - no_errors VWF HGNC ENSG00000110799 149 0 0 66 31 31.9588 MON2 0 genome.wustl.edu 37 12 62902072 62902072 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 62902072 62902072 G T SNP MON2 ENST00000393630 human ensembl 74_37 +1 known nonsense c.796 p.E266* 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 82 0 0 69 42 37.8378 PPM1H 0 genome.wustl.edu 37 12 63042363 63042363 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 63042363 63042363 T C SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.1451 p.D484G 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 88 0 0 48 26 35.1351 CD9 0 genome.wustl.edu 37 12 6334636 6334636 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6334636 6334636 C T SNP CD9 ENST00000009180 human ensembl 74_37 +1 known silent c.111 p.F37 0.976 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 111 1 0.892857 67 26 27.957 MSRB3 0 genome.wustl.edu 37 12 65720710 65720710 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 65720710 65720710 G A SNP MSRB3 ENST00000355192 human ensembl 74_37 +1 known missense c.202 p.E68K 1.000 pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 36 0 0 18 12 40 MSRB3 0 genome.wustl.edu 37 12 65857005 65857005 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 65857005 65857005 C T SNP MSRB3 ENST00000355192 human ensembl 74_37 +1 known missense c.482 p.S161L 0.997 pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 148 0 0 63 34 35.0515 B4GALNT3 0 genome.wustl.edu 37 12 665919 665919 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 665919 665919 A G SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.2267 p.D756G 0.194 pfam_Chond_GalNAc pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 58 0 0 27 11 28.9474 HELB 0 genome.wustl.edu 37 12 66712497 66712497 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 66712497 66712497 G T SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.2080 p.D694Y 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 89 0 0 77 36 31.8584 GRIP1 0 genome.wustl.edu 37 12 66742845 66742845 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 66742845 66742845 C A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.3341 p.S1114I 0.261 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 280 0 0 166 74 30.8333 CHD4 0 genome.wustl.edu 37 12 6692411 6692411 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6692411 6692411 C A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4013 p.R1338I 1.000 pfam_DUF1087 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 298 1 0.334448 150 83 35.6223 ACRBP 0 genome.wustl.edu 37 12 6749577 6749577 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6749577 6749577 C T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.1189 p.D397N 0.005 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 63 0 0 30 12 28.5714 DYRK2 0 genome.wustl.edu 37 12 68050891 68050891 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 68050891 68050891 C T SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known silent c.204 p.G68 0.878 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK2 HGNC ENSG00000127334 65 0 0 29 19 39.5833 IL26 0 genome.wustl.edu 37 12 68619407 68619407 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 68619407 68619407 C T SNP IL26 ENST00000229134 human ensembl 74_37 -1 known missense c.130 p.A44T 0.001 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core - no_errors IL26 HGNC ENSG00000111536 346 1 0.288184 178 79 30.7393 MDM1 0 genome.wustl.edu 37 12 68696398 68696398 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 68696398 68696398 A G SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known splice_site c.1972+2 e12+2 1.000 - - - no_errors MDM1 HGNC ENSG00000111554 52 0 0 33 23 41.0714 NUP107 0 genome.wustl.edu 37 12 69128606 69128606 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 69128606 69128606 A C SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.2381 p.K794T 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 43 0 0 31 15 32.6087 CD4 0 genome.wustl.edu 37 12 6925323 6925323 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 6925323 6925323 G A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known missense c.709 p.E237K 0.601 pfam_CD4-extracel,smart_Ig_sub,prints_Ag_CD4 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 233 0 0 86 53 38.1295 C12orf57 0 genome.wustl.edu 37 12 7053657 7053657 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 7053657 7053657 T C SNP C12orf57 ENST00000229281 human ensembl 74_37 +1 known missense c.71 p.I24T 1.000 NULL NULL - no_errors C12orf57 HGNC ENSG00000111678 35 0 0 17 5 22.7273 CNOT2 0 genome.wustl.edu 37 12 70723256 70723256 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 70723256 70723256 C T SNP CNOT2 ENST00000229195 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 88 0 0 67 24 26.3736 PTPRB 0 genome.wustl.edu 37 12 70925842 70925842 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 70925842 70925842 A G SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.6477 p.L2159 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 71 0 0 35 26 42.623 PTPRB 0 genome.wustl.edu 37 12 70986133 70986133 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 70986133 70986133 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.1709 p.R570Q 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 107 0 0 68 26 27.6596 PTPRB 0 genome.wustl.edu 37 12 71002899 71002899 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 71002899 71002899 T G SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.929 p.N310T 0.988 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 155 0 0 75 44 36.9748 PTPRR 0 genome.wustl.edu 37 12 71056292 71056292 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 71056292 71056292 G A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known nonsense c.1591 p.R531* 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 50 0 0 40 22 35.4839 PTPRR 0 genome.wustl.edu 37 12 71286586 71286586 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 71286586 71286586 C T SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.230 p.R77H 0.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 204 0 0 133 69 34.1584 ZFC3H1 0 genome.wustl.edu 37 12 72029233 72029233 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 72029233 72029233 C T SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.2228 p.R743Q 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 104 0 0 88 47 34.8148 TBC1D15 0 genome.wustl.edu 37 12 72266715 72266715 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 72266715 72266715 G A SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.136 p.E46K 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 153 0 0 124 49 28.3237 TBC1D15 0 genome.wustl.edu 37 12 72266725 72266725 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 72266725 72266725 T C SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.146 p.V49A 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 156 0 0 124 48 27.907 TPH2 0 genome.wustl.edu 37 12 72372774 72372774 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 72372774 72372774 G A SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.848 p.S283N 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 207 0 0 116 59 33.7143 CLSTN3 0 genome.wustl.edu 37 12 7295598 7295598 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 7295598 7295598 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.1674 p.F558 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 90 0 0 33 19 36.5385 ENSG00000238823 0 genome.wustl.edu 37 12 73278 73278 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 73278 73278 G A SNP ENSG00000238823 ENST00000458783 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC215219.1 Clone_based_ensembl_gene ENSG00000238823 141 0 0 142 45 24.0642 ACSM4 0 genome.wustl.edu 37 12 7475867 7475867 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 7475867 7475867 A C SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.1163 p.K388T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 27 0 0 11 8 42.1053 ENSG00000257434 0 genome.wustl.edu 37 12 75436769 75436769 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 75436769 75436769 A G SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 25 0 0 13 8 38.0952 CD163L1 0 genome.wustl.edu 37 12 7556295 7556295 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 7556295 7556295 C G SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1244 p.S415T 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 200 0 0 135 62 31.4721 GLIPR1L1 0 genome.wustl.edu 37 12 75737646 75737646 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 75737646 75737646 T G SNP GLIPR1L1 ENST00000378695 human ensembl 74_37 +1 known silent c.348 p.A116 0.008 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC ENSG00000173401 53 0 0 35 22 38.5965 KRR1 0 genome.wustl.edu 37 12 75897739 75897739 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 75897739 75897739 T C SNP KRR1 ENST00000229214 human ensembl 74_37 -1 known missense c.776 p.K259R 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 148 0 0 109 44 28.7582 KRR1 0 genome.wustl.edu 37 12 75902105 75902105 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 75902105 75902105 T G SNP KRR1 ENST00000229214 human ensembl 74_37 -1 known missense c.207 p.E69D 0.945 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 62 0 0 43 22 33.8462 PHLDA1 0 genome.wustl.edu 37 12 76424776 76424776 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 76424776 76424776 T C SNP PHLDA1 ENST00000266671 human ensembl 74_37 -1 known missense c.746 p.Y249C 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 108 0 0 47 26 35.6164 OSBPL8 0 genome.wustl.edu 37 12 76778098 76778098 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 76778098 76778098 A C SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known nonsense c.1566 p.Y522* 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 52 0 0 41 15 26.7857 ZDHHC17 0 genome.wustl.edu 37 12 77235880 77235880 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 77235880 77235880 G T SNP ZDHHC17 ENST00000334822 human ensembl 74_37 +1 known missense c.1260 p.K420N 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 24 0 0 20 11 35.4839 ZDHHC17 0 genome.wustl.edu 37 12 77244667 77244667 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 77244667 77244667 C T SNP ZDHHC17 ENST00000334822 human ensembl 74_37 +1 known nonsense c.1801 p.R601* 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 103 1 0.961538 96 50 34.2466 LOC100049716 0 genome.wustl.edu 37 12 772726 772726 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 772726 772726 A G SNP LOC100049716 ENST00000543884 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-218M22.1 Clone_based_vega_gene ENSG00000177406 73 0 0 28 17 37.7778 E2F7 0 genome.wustl.edu 37 12 77439830 77439830 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 77439830 77439830 C T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.817 p.D273N 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 119 0 0 63 36 36.3636 NAV3 0 genome.wustl.edu 37 12 78388626 78388626 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 78388626 78388626 G A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.715 p.A239T 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 63 0 0 63 26 29.2135 NAV3 0 genome.wustl.edu 37 12 78513721 78513721 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 78513721 78513721 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known nonsense c.3745 p.R1249* 0.999 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 75 0 0 38 21 35.5932 NAV3 0 genome.wustl.edu 37 12 78598740 78598740 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 78598740 78598740 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.6860 p.E2287G 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 69 0 0 45 25 35.7143 DPPA3 0 genome.wustl.edu 37 12 7867847 7867847 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 7867847 7867847 G A SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known missense c.151 p.E51K 0.000 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 142 0 0 67 37 35.5769 SLC2A14 0 genome.wustl.edu 37 12 7972091 7972091 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 7972091 7972091 G T SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known missense c.1127 p.S376Y 0.424 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 141 0 0 80 42 34.4262 OTOGL 0 genome.wustl.edu 37 12 80633220 80633220 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 80633220 80633220 G T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known splice_site c.1025+1 e10+1 1.000 - - - no_errors OTOGL HGNC ENSG00000165899 75 0 0 45 26 36.6197 OTOGL 0 genome.wustl.edu 37 12 80747147 80747147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 80747147 80747147 G A SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.5423 p.R1808Q 0.615 pfam_TIL_dom,superfamily_TIL_dom 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 15 0 0 13 7 35 SLC2A3 0 genome.wustl.edu 37 12 8075568 8075568 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8075568 8075568 A G SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.1121 p.V374A 1.000 pfam_Sub_transporter,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 81 0 0 33 16 32.6531 LIN7A 0 genome.wustl.edu 37 12 81239585 81239585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 81239585 81239585 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.407 p.R136H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 89 0 0 57 30 34.4828 FOXJ2 0 genome.wustl.edu 37 12 8200530 8200530 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8200530 8200530 T C SNP FOXJ2 ENST00000162391 human ensembl 74_37 +1 known silent c.870 p.Y290 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 92 0 0 30 20 40 C3AR1 0 genome.wustl.edu 37 12 8211843 8211843 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8211843 8211843 A G SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known silent c.939 p.G313 0.004 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 158 0 0 85 31 26.7241 NECAP1 0 genome.wustl.edu 37 12 8248234 8248234 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8248234 8248234 G A SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known silent c.714 p.T238 0.000 NULL pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 162 0 0 82 41 33.3333 METTL25 0 genome.wustl.edu 37 12 82792980 82792980 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 82792980 82792980 C A SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known missense c.938 p.S313Y 0.999 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 54 0 0 53 26 32.9114 FAM90A1 0 genome.wustl.edu 37 12 8374624 8374624 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8374624 8374624 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.1189 p.R397W 0.004 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 82 0 0 40 13 24.5283 FAM86FP 0 genome.wustl.edu 37 12 8386974 8386974 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8386974 8386974 G A SNP FAM86FP ENST00000427893 human ensembl 74_37 -1 known rna NULL NULL 0.328 - - - no_errors FAM86FP HGNC ENSG00000164845 97 0 0 46 20 30.303 ENSG00000221104 0 genome.wustl.edu 37 12 8519361 8519361 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8519361 8519361 G A SNP ENSG00000221104 ENST00000408177 human ensembl 74_37 +1 novel rna NULL NULL 0.309 - - - no_errors AC092865.1 Clone_based_ensembl_gene ENSG00000221104 144 0 0 64 41 39.0476 SLC6A15 0 genome.wustl.edu 37 12 85264417 85264417 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 85264417 85264417 G A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known silent c.1335 p.A445 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 114 0 0 74 39 34.5133 TSPAN19 0 genome.wustl.edu 37 12 85411330 85411330 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 85411330 85411330 T C SNP TSPAN19 ENST00000532498 human ensembl 74_37 -1 known missense c.499 p.N167D 0.962 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC ENSG00000231738 10 0 0 10 8 44.4444 LRRIQ1 0 genome.wustl.edu 37 12 85492191 85492191 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 85492191 85492191 T G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.2946 p.I982M 0.992 smart_Leu-rich_rpt_typical-subtyp pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 61 0 0 50 27 35.0649 NTS 0 genome.wustl.edu 37 12 86276065 86276065 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 86276065 86276065 G T SNP NTS ENST00000256010 human ensembl 74_37 +1 known missense c.425 p.R142I 1.000 pfam_NeurotensiN,prints_NeurotensiN pfam_NeurotensiN,prints_NeurotensiN - no_errors NTS HGNC ENSG00000133636 121 0 0 122 60 32.967 CLEC6A 0 genome.wustl.edu 37 12 8628798 8628798 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 8628798 8628798 G A SNP CLEC6A ENST00000382073 human ensembl 74_37 +1 known nonsense c.447 p.W149* 0.998 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC6A HGNC ENSG00000205846 109 0 0 79 33 29.4643 WNK1 0 genome.wustl.edu 37 12 862916 862916 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 862916 862916 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.185 p.D62G 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 102 0 0 38 15 28.3019 MGAT4C 0 genome.wustl.edu 37 12 86373668 86373668 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 86373668 86373668 A C SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.923 p.F308C 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 94 0 0 60 32 34.7826 MGAT4C 0 genome.wustl.edu 37 12 86383216 86383216 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 86383216 86383216 G T SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.196 p.L66I 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 35 0 0 21 11 34.375 MGAT4C 0 genome.wustl.edu 37 12 86383328 86383328 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 86383328 86383328 C A SNP MGAT4C ENST00000552435 human ensembl 74_37 -1 putative splice_site c.1-1 e1-1 0.795 - - - no_errors MGAT4C HGNC ENSG00000182050 40 0 0 21 11 34.375 C12orf50 0 genome.wustl.edu 37 12 88420349 88420349 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 88420349 88420349 G A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.49 p.P17S 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 72 0 0 49 18 26.8657 CEP290 0 genome.wustl.edu 37 12 88482952 88482952 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 88482952 88482952 C A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.3892 p.D1298Y 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 32 0 0 21 12 36.3636 DUSP6 0 genome.wustl.edu 37 12 89745792 89745792 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 89745792 89745792 G A SNP DUSP6 ENST00000279488 human ensembl 74_37 -1 known missense c.25 p.P9S 1.000 superfamily_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP6 HGNC ENSG00000139318 143 0 0 64 28 30.4348 POC1B 0 genome.wustl.edu 37 12 89864189 89864189 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 89864189 89864189 C T SNP POC1B ENST00000313546 human ensembl 74_37 -1 known silent c.759 p.K253 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 70 0 0 55 33 37.5 ATP2B1 0 genome.wustl.edu 37 12 90004246 90004246 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 90004246 90004246 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known nonsense c.2287 p.R763* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 176 0 0 125 65 34.2105 A2ML1 0 genome.wustl.edu 37 12 9008114 9008114 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 9008114 9008114 C T SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.2774 p.A925V 0.185 NULL 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 140 0 0 66 28 29.7872 LUM 0 genome.wustl.edu 37 12 91502039 91502039 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 91502039 91502039 C T SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.718 p.E240K 1.000 pfam_Leu-rich_rpt pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 211 0 0 110 74 40.2174 A2M 0 genome.wustl.edu 37 12 9261990 9261990 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 9261990 9261990 A G SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.685 p.F229L 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 24 0 0 23 8 25.8065 A2M 0 genome.wustl.edu 37 12 9265016 9265016 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 9265016 9265016 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.387 p.V129 0.931 pfam_A2M_N,superfamily_Cupredoxin pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 68 0 0 25 14 35.8974 PZP 0 genome.wustl.edu 37 12 9303273 9303273 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 9303273 9303273 C A SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4351 p.A1451S 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,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 PZP HGNC ENSG00000126838 89 0 0 53 31 36.9048 PLEKHG7 0 genome.wustl.edu 37 12 93162759 93162759 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 93162759 93162759 T G SNP PLEKHG7 ENST00000344636 human ensembl 74_37 +1 known missense c.935 p.V312G 0.158 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 29 0 0 18 8 30.7692 EEA1 0 genome.wustl.edu 37 12 93170682 93170682 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 93170682 93170682 C T SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.4051 p.E1351K 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 141 0 0 108 48 30.7692 EEA1 0 genome.wustl.edu 37 12 93181715 93181715 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 93181715 93181715 T G SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.3078 p.E1026D 0.705 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 44 0 0 32 16 33.3333 PZP 0 genome.wustl.edu 37 12 9318693 9318693 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 9318693 9318693 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.2213 p.R738Q 0.058 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,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 PZP HGNC ENSG00000126838 179 0 0 129 52 28.7293 CRADD 0 genome.wustl.edu 37 12 94243757 94243757 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 94243757 94243757 A G SNP CRADD ENST00000332896 human ensembl 74_37 +1 known missense c.310 p.T104A 0.000 superfamily_DEATH-like_dom pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 100 0 0 92 6 6.12245 PLXNC1 0 genome.wustl.edu 37 12 94641876 94641876 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 94641876 94641876 A C SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.2586 p.K862N 1.000 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 79 0 0 52 20 27.7778 PLXNC1 0 genome.wustl.edu 37 12 94673390 94673390 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 94673390 94673390 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.3740 p.S1247F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 99 0 0 45 19 29.6875 FGD6 0 genome.wustl.edu 37 12 95478317 95478317 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 95478317 95478317 A G SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known silent c.4213 p.L1405 0.839 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 86 0 0 59 29 32.9545 FGD6 0 genome.wustl.edu 37 12 95479665 95479665 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 95479665 95479665 T C SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.3998 p.D1333G 1.000 pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 155 0 0 95 46 32.6241 FGD6 0 genome.wustl.edu 37 12 95603582 95603582 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 95603582 95603582 C T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1478 p.R493Q 0.139 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 185 0 0 94 48 33.8028 FGD6 0 genome.wustl.edu 37 12 95603952 95603952 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 95603952 95603952 A G SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1108 p.C370R 0.892 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 115 0 0 102 7 6.42202 FGD6 0 genome.wustl.edu 37 12 95604098 95604098 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 95604098 95604098 C T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.962 p.R321Q 0.254 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 203 0 0 110 45 29.0323 METAP2 0 genome.wustl.edu 37 12 95906667 95906667 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 95906667 95906667 T G SNP METAP2 ENST00000323666 human ensembl 74_37 +1 known missense c.1159 p.F387V 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP2 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 65 0 0 38 15 28.3019 CCDC38 0 genome.wustl.edu 37 12 96312688 96312688 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 96312688 96312688 A C SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.104 p.L35R 1.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 91 0 0 42 28 40 CCDC38 0 genome.wustl.edu 37 12 96312689 96312689 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 96312689 96312689 G T SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.103 p.L35I 1.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 92 0 0 50 19 27.5362 CDK17 0 genome.wustl.edu 37 12 96692758 96692758 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 96692758 96692758 T C SNP CDK17 ENST00000261211 human ensembl 74_37 -1 known missense c.604 p.T202A 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 CDK17 HGNC ENSG00000059758 66 0 0 41 16 28.0702 C12orf55 0 genome.wustl.edu 37 12 97051678 97051678 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 97051678 97051678 G T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative nonsense c.5119 p.E1707* 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 195 0 0 173 48 21.7195 C12orf55 0 genome.wustl.edu 37 12 97093822 97093822 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 97093822 97093822 A G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.6425 p.N2142S 0.875 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 105 0 0 62 30 32.6087 C12orf55 0 genome.wustl.edu 37 12 97136242 97136242 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 97136242 97136242 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.7097 p.E2366A 0.340 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 36 0 0 25 12 32.4324 NEDD1 0 genome.wustl.edu 37 12 97345812 97345812 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 97345812 97345812 G T SNP NEDD1 ENST00000557644 human ensembl 74_37 +1 known missense c.1985 p.R662I 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NEDD1 HGNC ENSG00000139350 50 0 0 43 20 31.746 SLC25A3 0 genome.wustl.edu 37 12 98992403 98992403 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 98992403 98992403 G A SNP SLC25A3 ENST00000228318 human ensembl 74_37 +1 known missense c.566 p.R189Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 89 0 0 41 31 43.0556 APAF1 0 genome.wustl.edu 37 12 99080609 99080609 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 99080609 99080609 T G SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.2262 p.D754E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 91 0 0 64 6 8.57143 APAF1 0 genome.wustl.edu 37 12 99093197 99093197 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 99093197 99093197 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known silent c.2316 p.A772 0.801 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 47 0 0 40 16 28.5714 TM9SF2 0 genome.wustl.edu 37 13 100191723 100191723 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 100191723 100191723 A C SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.740 p.K247T 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 158 0 0 132 48 26.6667 TM9SF2 0 genome.wustl.edu 37 13 100201466 100201466 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 100201466 100201466 C A SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.1318 p.L440I 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 69 0 0 60 32 34.7826 NALCN 0 genome.wustl.edu 37 13 101712261 101712261 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 101712261 101712261 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4814 p.L1605R 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 89 0 0 37 30 44.7761 NALCN 0 genome.wustl.edu 37 13 101735209 101735209 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 101735209 101735209 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3716 p.V1239A 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 122 0 0 77 38 33.0435 NALCN 0 genome.wustl.edu 37 13 101742314 101742314 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 101742314 101742314 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.3273 p.A1091 0.001 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 351 0 0 220 93 29.7125 NALCN 0 genome.wustl.edu 37 13 101755555 101755555 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 101755555 101755555 C A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known nonsense c.3025 p.E1009* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 152 0 0 113 49 30.2469 NALCN 0 genome.wustl.edu 37 13 101797193 101797193 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 101797193 101797193 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known nonsense c.1894 p.R632* 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 214 0 0 148 64 30.1887 ITGBL1 0 genome.wustl.edu 37 13 102105271 102105271 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 102105271 102105271 G A SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known silent c.87 p.S29 0.286 NULL pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 123 0 0 93 7 7 ITGBL1 0 genome.wustl.edu 37 13 102359183 102359183 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 102359183 102359183 T G SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.1210 p.C404G 1.000 NULL pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 133 1 0.746269 73 43 37.069 TPP2 0 genome.wustl.edu 37 13 103295587 103295587 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 103295587 103295587 C T SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.2036 p.S679L 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 44 0 0 31 15 32.6087 BIVM 0 genome.wustl.edu 37 13 103459815 103459815 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 103459815 103459815 T G SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.198 p.I66M 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 109 0 0 75 40 34.7826 ERCC5 0 genome.wustl.edu 37 13 103506186 103506186 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 103506186 103506186 A G SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.344 p.K115R 1.000 prints_XPG/Rad2_eukaryotes,tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 56 0 0 32 18 36 ERCC5 0 genome.wustl.edu 37 13 103508441 103508441 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 103508441 103508441 G A SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.507 p.M169I 1.000 tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 75 0 0 58 31 34.8315 ERCC5 0 genome.wustl.edu 37 13 103513933 103513933 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 103513933 103513933 T C SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.749 p.V250A 1.000 tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 152 0 0 87 28 24.3478 ERCC5 0 genome.wustl.edu 37 13 103524621 103524621 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 103524621 103524621 T A SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.2752 p.L918I 0.014 superfamily_5-3_exonuclease_C,tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 72 0 0 44 22 33.3333 DAOA 0 genome.wustl.edu 37 13 106124904 106124904 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 106124904 106124904 G T SNP DAOA ENST00000375936 human ensembl 74_37 +1 known nonsense c.151 p.G51* 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 67 0 0 46 16 25.8065 ARGLU1 0 genome.wustl.edu 37 13 107196385 107196385 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 107196385 107196385 A G SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.781 p.S261P 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 38 0 0 31 9 22.5 FAM155A 0 genome.wustl.edu 37 13 107863091 107863091 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 107863091 107863091 C T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.928 p.A310T 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 91 0 0 47 26 35.6164 TNFSF13B 0 genome.wustl.edu 37 13 108955863 108955863 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 108955863 108955863 T C SNP TNFSF13B ENST00000375887 human ensembl 74_37 +1 known missense c.656 p.V219A 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors TNFSF13B HGNC ENSG00000102524 97 0 0 91 42 31.5789 MYO16 0 genome.wustl.edu 37 13 109753197 109753197 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 109753197 109753197 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known nonsense c.3334 p.R1112* 0.973 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 68 0 0 48 17 26.1538 COL4A1 0 genome.wustl.edu 37 13 110831355 110831355 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 110831355 110831355 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.2373 p.G791 0.004 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 33 0 0 16 6 27.2727 COL4A1 0 genome.wustl.edu 37 13 110833708 110833708 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 110833708 110833708 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.2124 p.G708 0.056 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 43 0 0 24 11 31.4286 CARS2 0 genome.wustl.edu 37 13 111335429 111335429 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 111335429 111335429 G A SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known silent c.624 p.V208 0.000 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 144 0 0 67 31 31.6327 CARS2 0 genome.wustl.edu 37 13 111340140 111340140 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 111340140 111340140 C T SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.499 p.E167K 0.998 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 257 0 0 141 78 35.6164 ING1 0 genome.wustl.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 111372025 111372025 C T SNP ING1 ENST00000375774 human ensembl 74_37 +1 known nonsense c.1015 p.R339* 0.949 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 65 0 0 45 21 31.8182 ANKRD10 0 genome.wustl.edu 37 13 111532320 111532320 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 111532320 111532320 A G SNP ANKRD10 ENST00000267339 human ensembl 74_37 -1 known silent c.927 p.I309 0.243 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD10 HGNC ENSG00000088448 104 0 0 53 49 48.0392 ANKRD10 0 genome.wustl.edu 37 13 111532435 111532435 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 111532435 111532435 G A SNP ANKRD10 ENST00000267339 human ensembl 74_37 -1 known missense c.812 p.S271L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD10 HGNC ENSG00000088448 64 0 0 35 16 31.3725 ARHGEF7 0 genome.wustl.edu 37 13 111935539 111935539 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 111935539 111935539 G A SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known silent c.1842 p.A614 0.984 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 12 0 0 4 6 60 TUBGCP3 0 genome.wustl.edu 37 13 113170831 113170831 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 113170831 113170831 G A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.2009 p.A670V 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 81 0 0 43 18 29.5082 ATP11A 0 genome.wustl.edu 37 13 113527971 113527971 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 113527971 113527971 C A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.3142 p.L1048I 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 88 0 0 30 16 34.7826 F7 0 genome.wustl.edu 37 13 113772894 113772894 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 113772894 113772894 G A SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.973 p.E325K 0.019 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 107 0 0 41 29 41.4286 PCID2 0 genome.wustl.edu 37 13 113854922 113854922 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 113854922 113854922 A C SNP PCID2 ENST00000462853 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PCID2 HGNC ENSG00000126226 16 0 0 3 8 72.7273 TMEM255B 0 genome.wustl.edu 37 13 114469097 114469097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 114469097 114469097 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.56 p.S19L 0.137 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 141 0 0 74 44 37.2881 TMEM255B 0 genome.wustl.edu 37 13 114502452 114502452 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 114502452 114502452 C T SNP TMEM255B ENST00000488362 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM255B HGNC ENSG00000184497 29 0 0 20 9 31.0345 CDC16 0 genome.wustl.edu 37 13 115030682 115030682 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 115030682 115030682 G A SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known missense c.1570 p.E524K 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 165 0 0 98 52 34.6667 UPF3A 0 genome.wustl.edu 37 13 115070354 115070354 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 115070354 115070354 T G SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known missense c.1393 p.S465A 0.008 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 84 0 0 36 22 37.931 TPTE2 0 genome.wustl.edu 37 13 20000636 20000636 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20000636 20000636 C T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.1324 p.D442N 0.366 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 66 0 0 80 25 23.8095 MPHOSPH8 0 genome.wustl.edu 37 13 20240591 20240591 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20240591 20240591 C T SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known silent c.2046 p.I682 0.021 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 235 0 0 115 68 37.1585 PSPC1 0 genome.wustl.edu 37 13 20277378 20277378 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20277378 20277378 A G SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known silent c.1509 p.G503 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 84 0 0 58 18 23.6842 PSPC1 0 genome.wustl.edu 37 13 20279843 20279843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20279843 20279843 C T SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.1345 p.A449T 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 65 0 0 50 10 16.6667 PSPC1 0 genome.wustl.edu 37 13 20304443 20304443 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20304443 20304443 C T SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.1094 p.R365Q 0.997 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 357 0 0 245 21 7.89474 PSPC1 0 genome.wustl.edu 37 13 20356882 20356882 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20356882 20356882 T G SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.16 p.N6H 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 133 0 0 67 24 26.3736 ZMYM2 0 genome.wustl.edu 37 13 20567921 20567921 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20567921 20567921 T G SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.709 p.F237V 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 197 0 0 130 74 36.2745 ZMYM2 0 genome.wustl.edu 37 13 20633001 20633001 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20633001 20633001 G T SNP ZMYM2 ENST00000382883 human ensembl 74_37 +1 known missense c.1082 p.R361I 0.000 NULL pfam_Znf_MYM,pfam_TRASH_TR_C_arc,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 43 0 0 26 20 43.4783 GJA3 0 genome.wustl.edu 37 13 20716951 20716951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20716951 20716951 G A SNP GJA3 ENST00000241125 human ensembl 74_37 -1 known silent c.477 p.F159 0.755 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 60 0 0 37 16 30.1887 GJB6 0 genome.wustl.edu 37 13 20797280 20797280 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20797280 20797280 C A SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known missense c.340 p.D114Y 0.328 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 95 0 0 47 26 35.6164 GJB6 0 genome.wustl.edu 37 13 20797414 20797414 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 20797414 20797414 A G SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known missense c.206 p.F69S 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 92 0 0 53 27 33.75 LATS2 0 genome.wustl.edu 37 13 21557416 21557416 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 21557416 21557416 A G SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.2429 p.F810S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 134 0 0 67 33 33 MICU2 0 genome.wustl.edu 37 13 22070163 22070163 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 22070163 22070163 A C SNP MICU2 ENST00000479790 human ensembl 74_37 -1 known rna NULL NULL 0.118 - - - no_errors MICU2 HGNC ENSG00000165487 41 0 0 23 13 36.1111 SACS 0 genome.wustl.edu 37 13 23906234 23906234 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23906234 23906234 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.11781 p.A3927 0.007 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 196 0 0 119 62 34.2541 SACS 0 genome.wustl.edu 37 13 23906297 23906297 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23906297 23906297 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.11718 p.A3906 0.080 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 259 0 0 126 75 37.3134 SACS 0 genome.wustl.edu 37 13 23906840 23906840 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23906840 23906840 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.11175 p.G3725 0.202 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 154 0 0 106 53 33.3333 SACS 0 genome.wustl.edu 37 13 23907108 23907108 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23907108 23907108 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10907 p.R3636Q 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 69 0 0 41 20 32.7869 SACS 0 genome.wustl.edu 37 13 23907994 23907994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23907994 23907994 C A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10021 p.D3341Y 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 117 0 0 75 38 33.6283 SACS 0 genome.wustl.edu 37 13 23908017 23908017 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23908017 23908017 G T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.9998 p.A3333D 0.999 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 132 0 0 79 34 30.0885 SACS 0 genome.wustl.edu 37 13 23909908 23909908 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23909908 23909908 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8107 p.R2703C 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 84 0 0 59 30 33.7079 SACS 0 genome.wustl.edu 37 13 23911396 23911396 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23911396 23911396 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6619 p.A2207T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 72 0 0 40 22 35.4839 SACS 0 genome.wustl.edu 37 13 23911438 23911438 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23911438 23911438 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6577 p.D2193N 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 67 0 0 40 16 28.5714 SACS 0 genome.wustl.edu 37 13 23913082 23913082 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23913082 23913082 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known nonsense c.4933 p.R1645* 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 144 0 0 71 42 37.1681 SACS 0 genome.wustl.edu 37 13 23915457 23915457 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23915457 23915457 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.2558 p.K853T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 95 0 0 74 30 28.8462 SACS 0 genome.wustl.edu 37 13 23915664 23915664 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 23915664 23915664 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.2351 p.K784T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 85 0 0 44 37 45.679 MIPEP 0 genome.wustl.edu 37 13 24330852 24330852 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 24330852 24330852 T G SNP MIPEP ENST00000464194 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIPEP HGNC ENSG00000027001 32 0 0 13 14 51.8519 MIPEP 0 genome.wustl.edu 37 13 24415537 24415537 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 24415537 24415537 C A SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known silent c.1197 p.G399 0.931 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 102 0 0 54 30 35.7143 C1QTNF9B 0 genome.wustl.edu 37 13 24465742 24465742 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 24465742 24465742 C T SNP C1QTNF9B ENST00000382137 human ensembl 74_37 -1 known missense c.688 p.E230K 0.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9B HGNC ENSG00000205863 200 0 0 107 54 33.5404 ANKRD20A19P 0 genome.wustl.edu 37 13 24515769 24515769 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 24515769 24515769 A G SNP ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 90 0 0 47 22 31.8841 PARP4 0 genome.wustl.edu 37 13 25008639 25008639 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25008639 25008639 T C SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.4640 p.D1547G 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 120 0 0 68 25 26.8817 PARP4 0 genome.wustl.edu 37 13 25008671 25008671 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25008671 25008671 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.4608 p.C1536 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 111 0 0 69 27 28.125 PARP4 0 genome.wustl.edu 37 13 25067745 25067745 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25067745 25067745 T G SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.868 p.S290R 0.837 superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 85 0 0 41 23 35.9375 TPTE2P6 0 genome.wustl.edu 37 13 25171719 25171719 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25171719 25171719 A G SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TPTE2P6 HGNC ENSG00000205822 28 0 0 17 14 45.1613 ATP12A 0 genome.wustl.edu 37 13 25284622 25284622 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25284622 25284622 G A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.2806 p.E936K 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 103 0 0 67 25 27.1739 RNF17 0 genome.wustl.edu 37 13 25353856 25353856 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25353856 25353856 A C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.481 p.S161R 0.978 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 93 0 0 65 29 30.8511 RNF17 0 genome.wustl.edu 37 13 25353861 25353861 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25353861 25353861 C T SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known silent c.486 p.F162 0.997 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 89 0 0 55 32 36.7816 RNF17 0 genome.wustl.edu 37 13 25406069 25406069 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25406069 25406069 A C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.2435 p.K812T 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 42 0 0 37 23 38.3333 RNF17 0 genome.wustl.edu 37 13 25444782 25444782 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25444782 25444782 T C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.4352 p.V1451A 0.865 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 84 0 0 59 28 32.1839 MTMR6 0 genome.wustl.edu 37 13 25826043 25826043 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 25826043 25826043 C T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1426 p.E476K 0.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 213 0 0 138 74 34.9057 ATP8A2 0 genome.wustl.edu 37 13 26343251 26343251 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 26343251 26343251 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.2452 p.A818T 0.999 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 140 0 0 60 22 26.8293 RNF6 0 genome.wustl.edu 37 13 26789090 26789090 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 26789090 26789090 C T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.929 p.R310Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 252 0 0 156 69 30.6667 RPL21 0 genome.wustl.edu 37 13 27830372 27830372 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 27830372 27830372 C T SNP RPL21 ENST00000272274 human ensembl 74_37 +1 known silent c.294 p.H98 1.000 pfam_Ribosomal_L21e,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L21e,superfamily_Translation_prot_SH3-like - no_errors RPL21 HGNC ENSG00000122026 12 0 0 10 6 37.5 LNX2 0 genome.wustl.edu 37 13 28155573 28155573 + Nonsense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 28155573 28155573 T A SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known nonsense c.268 p.R90* 0.991 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 48 0 0 32 30 48.3871 FLT1 0 genome.wustl.edu 37 13 29001999 29001999 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 29001999 29001999 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1166 p.S389L 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_VEGFR1_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 137 0 0 75 52 40.9449 FLT1 0 genome.wustl.edu 37 13 29041260 29041260 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 29041260 29041260 T G SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.168 p.E56D 0.443 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 126 0 0 78 32 29.0909 MTUS2 0 genome.wustl.edu 37 13 29608080 29608080 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 29608080 29608080 T C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2294 p.V765A 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 55 0 0 35 16 31.3725 MTUS2 0 genome.wustl.edu 37 13 30077268 30077268 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 30077268 30077268 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.4065 p.S1355 0.995 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 93 0 0 46 24 34.2857 UBL3 0 genome.wustl.edu 37 13 30346289 30346289 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 30346289 30346289 A C SNP UBL3 ENST00000380680 human ensembl 74_37 -1 known missense c.183 p.I61M 1.000 pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup - no_errors UBL3 HGNC ENSG00000122042 105 0 0 76 29 27.619 KATNAL1 0 genome.wustl.edu 37 13 30857759 30857759 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 30857759 30857759 C T SNP KATNAL1 ENST00000380615 human ensembl 74_37 -1 known nonsense c.156 p.W52* 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL1 HGNC ENSG00000102781 171 0 0 98 47 32.4138 MEDAG 0 genome.wustl.edu 37 13 31495898 31495898 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 31495898 31495898 G A SNP MEDAG ENST00000380482 human ensembl 74_37 +1 known silent c.702 p.T234 0.400 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 72 0 0 45 23 33.8235 FRY 0 genome.wustl.edu 37 13 32721440 32721440 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32721440 32721440 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known nonsense c.1201 p.R401* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 45 0 0 28 23 45.098 FRY 0 genome.wustl.edu 37 13 32768298 32768298 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32768298 32768298 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.3610 p.E1204K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 145 0 0 72 40 35.7143 FRY 0 genome.wustl.edu 37 13 32776594 32776594 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32776594 32776594 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.3948 p.S1316 0.845 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 140 0 0 61 26 29.8851 FRY 0 genome.wustl.edu 37 13 32802781 32802781 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32802781 32802781 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.5395 p.L1799F 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 103 0 0 61 24 28.2353 FRY 0 genome.wustl.edu 37 13 32805401 32805401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32805401 32805401 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.5491 p.R1831C 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 119 0 0 67 50 42.735 FRY 0 genome.wustl.edu 37 13 32821606 32821606 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32821606 32821606 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.6975 p.G2325 0.195 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 122 0 0 68 27 28.4211 BRCA2 0 genome.wustl.edu 37 13 32907018 32907018 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32907018 32907018 G T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.1403 p.R468I 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 96 0 0 74 40 35.0877 BRCA2 0 genome.wustl.edu 37 13 32914522 32914522 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32914522 32914522 C A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.6030 p.V2010 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 112 0 0 72 34 32.0755 BRCA2 0 genome.wustl.edu 37 13 32929345 32929345 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 32929345 32929345 A C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.7355 p.N2452T 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 43 0 0 34 22 39.2857 N4BP2L2 0 genome.wustl.edu 37 13 33017991 33017991 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 33017991 33017991 T G SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.683 p.K228T 0.000 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 14 0 0 12 9 42.8571 PDS5B 0 genome.wustl.edu 37 13 33275569 33275569 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 33275569 33275569 C A SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.1850 p.S617Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 53 0 0 35 23 39.6552 KL 0 genome.wustl.edu 37 13 33590981 33590981 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 33590981 33590981 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.403 p.D135N 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 49 0 0 23 9 28.125 KL 0 genome.wustl.edu 37 13 33628183 33628183 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 33628183 33628183 T G SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.1099 p.F367V 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 349 0 0 222 113 33.7313 STARD13 0 genome.wustl.edu 37 13 33701653 33701653 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 33701653 33701653 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.1779 p.S593 0.014 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 14 0 0 3 4 57.1429 NBEA 0 genome.wustl.edu 37 13 35692599 35692599 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 35692599 35692599 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.2231 p.R744I 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 26 0 0 10 7 41.1765 MAB21L1 0 genome.wustl.edu 37 13 36049800 36049800 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 36049800 36049800 T G SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.476 p.K159T 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 97 0 0 46 23 33.3333 NBEA 0 genome.wustl.edu 37 13 36180562 36180562 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 36180562 36180562 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known splice_site c.7297-1 e48-1 1.000 - - - no_errors NBEA HGNC ENSG00000172915 12 0 0 6 3 33.3333 NBEA 0 genome.wustl.edu 37 13 36202263 36202263 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 36202263 36202263 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7495 p.D2499N 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 21 0 0 18 9 33.3333 SERTM1 0 genome.wustl.edu 37 13 37269387 37269387 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 37269387 37269387 C T SNP SERTM1 ENST00000315190 human ensembl 74_37 +1 known missense c.172 p.L58F 1.000 NULL NULL - no_errors SERTM1 HGNC ENSG00000180440 205 0 0 124 45 26.6272 ALG5 0 genome.wustl.edu 37 13 37539735 37539735 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 37539735 37539735 A C SNP ALG5 ENST00000239891 human ensembl 74_37 -1 known missense c.750 p.F250L 1.000 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 182 0 0 83 43 34.127 TRPC4 0 genome.wustl.edu 37 13 38211598 38211598 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 38211598 38211598 C A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2391 p.K797N 1.000 prints_TRPC4_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 113 0 0 73 40 35.3982 TRPC4 0 genome.wustl.edu 37 13 38213186 38213186 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 38213186 38213186 C A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2217 p.E739D 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 259 0 0 144 66 31.4286 TRPC4 0 genome.wustl.edu 37 13 38213191 38213191 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 38213191 38213191 C T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2212 p.E738K 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 270 0 0 150 72 32.4324 FREM2 0 genome.wustl.edu 37 13 39262086 39262086 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 39262086 39262086 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.605 p.A202V 0.326 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 32 0 0 11 7 38.8889 FREM2 0 genome.wustl.edu 37 13 39262102 39262102 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 39262102 39262102 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.621 p.F207 0.996 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 45 0 0 15 7 31.8182 FREM2 0 genome.wustl.edu 37 13 39265671 39265671 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 39265671 39265671 A G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.4190 p.D1397G 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 212 0 0 119 72 37.6963 NHLRC3 0 genome.wustl.edu 37 13 39621836 39621836 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 39621836 39621836 A G SNP NHLRC3 ENST00000379600 human ensembl 74_37 +1 known missense c.817 p.I273V 0.950 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 72 0 0 49 24 32.8767 LHFP 0 genome.wustl.edu 37 13 40175113 40175113 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 40175113 40175113 C T SNP LHFP ENST00000379589 human ensembl 74_37 -1 known missense c.241 p.E81K 0.998 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFP HGNC ENSG00000183722 217 0 0 118 55 31.7919 COG6 0 genome.wustl.edu 37 13 40253807 40253807 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 40253807 40253807 A C SNP COG6 ENST00000465775 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COG6 HGNC ENSG00000133103 32 0 0 26 15 36.5854 FOXO1 0 genome.wustl.edu 37 13 41134849 41134849 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 41134849 41134849 T C SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.779 p.N260S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 175 0 0 90 38 29.6875 FOXO1 0 genome.wustl.edu 37 13 41134955 41134955 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 41134955 41134955 G A SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.673 p.R225C 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 117 0 0 58 19 24.6753 KBTBD6 0 genome.wustl.edu 37 13 41705387 41705387 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 41705387 41705387 G A SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.1261 p.R421C 0.983 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 164 0 0 95 54 36.2416 MTRF1 0 genome.wustl.edu 37 13 41808045 41808045 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 41808045 41808045 T G SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.1008 p.R336S 0.980 pfam_Pep_chain_release_fac_I_II pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 128 0 0 104 32 23.5294 NAA16 0 genome.wustl.edu 37 13 41893022 41893022 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 41893022 41893022 C T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.220 p.R74C 1.000 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 45 0 0 45 17 27.4194 NAA16 0 genome.wustl.edu 37 13 41932600 41932600 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 41932600 41932600 A C SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.1248 p.K416N 1.000 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 38 0 0 33 12 26.6667 VWA8 0 genome.wustl.edu 37 13 42277525 42277525 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 42277525 42277525 A G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.3139 p.F1047L 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 68 0 0 38 21 35.5932 VWA8 0 genome.wustl.edu 37 13 42293761 42293761 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 42293761 42293761 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.3082 p.G1028R 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 86 0 0 44 29 39.726 VWA8 0 genome.wustl.edu 37 13 42460062 42460062 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 42460062 42460062 T G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.969 p.Q323H 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 37 0 0 18 11 37.931 ENOX1 0 genome.wustl.edu 37 13 43896586 43896586 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 43896586 43896586 C A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known nonsense c.1195 p.E399* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 110 0 0 65 38 36.8932 CCDC122 0 genome.wustl.edu 37 13 44411430 44411430 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 44411430 44411430 C A SNP CCDC122 ENST00000444614 human ensembl 74_37 -1 putative nonsense c.808 p.G270* 0.300 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 81 0 0 51 20 28.169 TSC22D1 0 genome.wustl.edu 37 13 45149181 45149181 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 45149181 45149181 G A SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.1030 p.P344S 0.618 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 118 0 0 62 23 27.0588 KCTD4 0 genome.wustl.edu 37 13 45768256 45768256 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 45768256 45768256 G A SNP KCTD4 ENST00000379108 human ensembl 74_37 -1 known silent c.447 p.H149 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC ENSG00000180332 163 0 0 105 48 31.3725 TPT1 0 genome.wustl.edu 37 13 45914178 45914178 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 45914178 45914178 T G SNP TPT1 ENST00000530705 human ensembl 74_37 -1 known missense c.244 p.S82R 1.000 pfam_Translational_control_tumour_p,superfamily_Mss4-like pfam_Translational_control_tumour_p,superfamily_Mss4-like,prints_Translational_control_tumour_p - no_errors TPT1 HGNC ENSG00000133112 113 0 0 54 28 34.1463 ZC3H13 0 genome.wustl.edu 37 13 46559794 46559794 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 46559794 46559794 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1358 p.R453Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 201 0 0 115 58 33.526 ZC3H13 0 genome.wustl.edu 37 13 46563119 46563119 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 46563119 46563119 C A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1058 p.R353I 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 82 0 0 28 22 44 CPB2 0 genome.wustl.edu 37 13 46638872 46638872 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 46638872 46638872 C T SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known missense c.707 p.R236Q 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 65 0 0 29 21 42 CPB2 0 genome.wustl.edu 37 13 46653021 46653021 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 46653021 46653021 C A SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known nonsense c.400 p.E134* 0.967 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 57 0 0 38 18 32.1429 LCP1 0 genome.wustl.edu 37 13 46733037 46733037 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 46733037 46733037 C T SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.152 p.R51Q 1.000 pfscan_EF_hand_dom pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 278 0 0 138 67 32.6829 LRCH1 0 genome.wustl.edu 37 13 47297460 47297460 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 47297460 47297460 C T SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known missense c.1759 p.R587C 0.998 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 46 0 0 33 15 31.25 LRCH1 0 genome.wustl.edu 37 13 47315828 47315828 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 47315828 47315828 C T SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known nonsense c.2032 p.R678* 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 634 1 0.15748 385 185 32.4561 NUDT15 0 genome.wustl.edu 37 13 48615235 48615235 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 48615235 48615235 A C SNP NUDT15 ENST00000258662 human ensembl 74_37 +1 known missense c.338 p.E113A 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT15 HGNC ENSG00000136159 23 0 0 18 10 35.7143 ITM2B 0 genome.wustl.edu 37 13 48830320 48830320 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 48830320 48830320 A G SNP ITM2B ENST00000378565 human ensembl 74_37 +1 known missense c.254 p.D85G 0.998 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2B HGNC ENSG00000136156 72 0 0 43 15 25.8621 CYSLTR2 0 genome.wustl.edu 37 13 49281629 49281629 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 49281629 49281629 C T SNP CYSLTR2 ENST00000282018 human ensembl 74_37 +1 known missense c.676 p.R226W 0.953 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_CLT2_recept pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt - no_errors CYSLTR2 HGNC ENSG00000152207 168 0 0 118 49 29.3413 CAB39L 0 genome.wustl.edu 37 13 49925041 49925041 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 49925041 49925041 C T SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known missense c.403 p.A135T 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 86 0 0 56 23 29.1139 RCBTB1 0 genome.wustl.edu 37 13 50123608 50123608 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 50123608 50123608 C T SNP RCBTB1 ENST00000258646 human ensembl 74_37 -1 known missense c.1031 p.R344H 1.000 superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 64 0 0 35 16 31.3725 TRIM13 0 genome.wustl.edu 37 13 50587166 50587166 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 50587166 50587166 T G SNP TRIM13 ENST00000298772 human ensembl 74_37 +1 known missense c.1099 p.F367V 0.911 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 202 0 0 119 65 35.3261 MIR16-1 0 genome.wustl.edu 37 13 50623163 50623163 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 50623163 50623163 C T SNP MIR16-1 ENST00000385271 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR16-1 HGNC ENSG00000208006 111 0 0 79 38 32.4786 CCDC70 0 genome.wustl.edu 37 13 52439685 52439685 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 52439685 52439685 T G SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known missense c.171 p.I57M 0.000 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 122 0 0 77 43 35.8333 ATP7B 0 genome.wustl.edu 37 13 52511798 52511798 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 52511798 52511798 G T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known silent c.3717 p.V1239 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 195 0 0 71 38 34.8624 ATP7B 0 genome.wustl.edu 37 13 52518371 52518371 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 52518371 52518371 G T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known silent c.3117 p.V1039 0.999 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 60 0 0 30 15 33.3333 ALG11 0 genome.wustl.edu 37 13 52593158 52593158 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 52593158 52593158 T A SNP ALG11 ENST00000521508 human ensembl 74_37 +1 known missense c.154 p.L52I 0.003 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 96 0 0 75 38 33.6283 NEK5 0 genome.wustl.edu 37 13 52684696 52684696 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 52684696 52684696 T C SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known silent c.330 p.V110 0.966 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 32 0 0 23 12 34.2857 CKAP2 0 genome.wustl.edu 37 13 53035861 53035861 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 53035861 53035861 A C SNP CKAP2 ENST00000378037 human ensembl 74_37 +1 known missense c.903 p.K301N 0.008 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 106 0 0 78 41 34.4538 DIAPH3 0 genome.wustl.edu 37 13 60565365 60565365 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 60565365 60565365 C A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known nonsense c.1288 p.E430* 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 64 0 0 79 26 24.7619 DIAPH3 0 genome.wustl.edu 37 13 60590074 60590074 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 60590074 60590074 C T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known silent c.744 p.Q248 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 29 0 0 26 8 23.5294 TDRD3 0 genome.wustl.edu 37 13 61034550 61034550 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 61034550 61034550 C T SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.229 p.R77C 1.000 pfam_DUF1767 pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 62 0 0 30 18 37.5 TDRD3 0 genome.wustl.edu 37 13 61103068 61103068 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 61103068 61103068 T C SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1709 p.V570A 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 49 0 0 22 13 37.1429 TDRD3 0 genome.wustl.edu 37 13 61103094 61103094 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 61103094 61103094 C T SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known nonsense c.1735 p.R579* 0.987 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 67 0 0 24 16 40 PCDH20 0 genome.wustl.edu 37 13 61986425 61986425 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 61986425 61986425 C A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known nonsense c.1807 p.E603* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 104 0 0 58 33 36.2637 PCDH9 0 genome.wustl.edu 37 13 67800785 67800785 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 67800785 67800785 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.1788 p.V596 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 PCDH9 HGNC ENSG00000184226 207 0 0 133 52 28.1081 PCDH9 0 genome.wustl.edu 37 13 67802424 67802424 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 67802424 67802424 G T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.149 p.S50Y 1.000 pfam_Cadherin_N,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 PCDH9 HGNC ENSG00000184226 110 0 0 75 27 26.4706 DACH1 0 genome.wustl.edu 37 13 72204778 72204778 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 72204778 72204778 T G SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.1042 p.K348Q 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 238 0 0 141 98 41.0042 DACH1 0 genome.wustl.edu 37 13 72440841 72440841 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 72440841 72440841 A G SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.67 p.S23P 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 42 0 0 17 9 34.6154 DIS3 0 genome.wustl.edu 37 13 73347916 73347916 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 73347916 73347916 C T SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known missense c.1145 p.R382Q 1.000 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 70 0 0 60 24 28.5714 COMMD6 0 genome.wustl.edu 37 13 76104344 76104344 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 76104344 76104344 A C SNP COMMD6 ENST00000355801 human ensembl 74_37 -1 known missense c.113 p.L38R 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD6 HGNC ENSG00000188243 110 0 0 72 38 34.5455 LMO7 0 genome.wustl.edu 37 13 76393550 76393550 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 76393550 76393550 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.2242 p.R748C 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 102 0 0 53 30 36.1446 MYCBP2 0 genome.wustl.edu 37 13 77751940 77751940 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 77751940 77751940 G T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.5283 p.F1761L 1.000 pfam_PHR,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 85 0 0 46 33 41.7722 MYCBP2 0 genome.wustl.edu 37 13 77817210 77817210 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 77817210 77817210 T G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.2613 p.R871S 1.000 superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 102 0 0 67 28 29.4737 SCEL 0 genome.wustl.edu 37 13 78178498 78178498 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 78178498 78178498 G T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.1105 p.D369Y 1.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 109 0 0 72 44 37.931 SCEL 0 genome.wustl.edu 37 13 78188041 78188041 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 78188041 78188041 C A SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.1402 p.L468I 0.983 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 129 0 0 76 33 30.2752 EDNRB 0 genome.wustl.edu 37 13 78472431 78472431 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 78472431 78472431 T C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known silent c.1233 p.K411 1.000 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 78 0 0 43 18 29.5082 PTMAP5 0 genome.wustl.edu 37 13 82265085 82265085 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 82265085 82265085 G T SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMAP5 HGNC ENSG00000214182 89 0 0 73 29 28.4314 SLITRK1 0 genome.wustl.edu 37 13 84453915 84453915 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 84453915 84453915 C A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1728 p.E576D 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 63 0 0 27 16 37.2093 SLITRK1 0 genome.wustl.edu 37 13 84453995 84453995 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 84453995 84453995 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1648 p.E550K 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 82 0 0 42 6 12.5 SLITRK1 0 genome.wustl.edu 37 13 84454115 84454115 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 84454115 84454115 G T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1528 p.P510T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 77 0 0 42 20 32.2581 SLITRK1 0 genome.wustl.edu 37 13 84454919 84454919 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 84454919 84454919 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.724 p.E242K 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 104 0 0 46 28 37.8378 SLITRK1 0 genome.wustl.edu 37 13 84455355 84455355 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 84455355 84455355 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.288 p.E96D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 144 0 0 81 43 34.6774 SLITRK5 0 genome.wustl.edu 37 13 88328019 88328019 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 88328019 88328019 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.376 p.H126N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 191 0 0 106 64 37.6471 SLITRK5 0 genome.wustl.edu 37 13 88328996 88328996 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 88328996 88328996 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1353 p.R451 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 68 0 0 49 25 33.7838 SLITRK5 0 genome.wustl.edu 37 13 88329437 88329437 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 88329437 88329437 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1794 p.F598 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 258 0 0 137 50 26.738 GPC6 0 genome.wustl.edu 37 13 94958302 94958302 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 94958302 94958302 T G SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.1077 p.N359K 0.900 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 167 0 0 133 59 30.7292 ABCC4 0 genome.wustl.edu 37 13 95840745 95840745 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 95840745 95840745 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.1315 p.E439K 0.982 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 133 0 0 77 27 25.9615 CLDN10 0 genome.wustl.edu 37 13 96212483 96212483 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 96212483 96212483 C T SNP CLDN10 ENST00000299339 human ensembl 74_37 +1 known silent c.318 p.V106 0.819 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin - no_errors CLDN10 HGNC ENSG00000134873 127 0 0 60 40 40 DZIP1 0 genome.wustl.edu 37 13 96293613 96293613 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 96293613 96293613 T G SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.533 p.K178T 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 72 0 0 25 26 50.9804 RNF113B 0 genome.wustl.edu 37 13 98828929 98828929 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 98828929 98828929 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.562 p.R188C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 130 0 0 52 35 40.2299 FARP1 0 genome.wustl.edu 37 13 98896956 98896956 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 98896956 98896956 T G SNP FARP1 ENST00000376581 human ensembl 74_37 +1 known missense c.383 p.L128R 0.001 NULL NULL - no_errors FARP1 HGNC ENSG00000152767 95 0 0 54 29 34.9398 STK24 0 genome.wustl.edu 37 13 99115970 99115970 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 99115970 99115970 C T SNP STK24 ENST00000376547 human ensembl 74_37 -1 known missense c.940 p.D314N 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK24 HGNC ENSG00000102572 64 0 0 43 23 34.8485 SLC15A1 0 genome.wustl.edu 37 13 99358407 99358407 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 99358407 99358407 G A SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known missense c.1250 p.T417I 0.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 74 0 0 55 31 36.0465 DOCK9 0 genome.wustl.edu 37 13 99505740 99505740 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 99505740 99505740 G A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.3871 p.R1291C 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 258 0 0 151 95 38.6179 DOCK9 0 genome.wustl.edu 37 13 99532212 99532212 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 99532212 99532212 A C SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.2886 p.F962L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 51 0 0 39 23 37.0968 SNORD114-21 0 genome.wustl.edu 37 14 101448346 101448346 + RNA SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 101448346 101448346 A T SNP SNORD114-21 ENST00000606412 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-21 HGNC ENSG00000272344 167 0 0 114 58 33.7209 MIR1197 0 genome.wustl.edu 37 14 101491968 101491968 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 101491968 101491968 G A SNP MIR1197 ENST00000408818 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1197 HGNC ENSG00000221745 118 0 0 50 24 32.4324 MIR381 0 genome.wustl.edu 37 14 101512287 101512287 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 101512287 101512287 C T SNP MIR381 ENST00000362150 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR381 HGNC ENSG00000199020 28 0 0 10 4 28.5714 MIR382 0 genome.wustl.edu 37 14 101520682 101520682 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 101520682 101520682 T G SNP MIR382 ENST00000385009 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors MIR382 HGNC ENSG00000207742 36 0 0 26 10 27.7778 MIR377 0 genome.wustl.edu 37 14 101528414 101528414 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 101528414 101528414 C T SNP MIR377 ENST00000362145 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR377 HGNC ENSG00000199015 159 1 0.625 100 43 30.0699 DYNC1H1 0 genome.wustl.edu 37 14 102481480 102481480 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 102481480 102481480 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.7053 p.A2351 0.685 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 146 0 0 65 41 38.6792 WDR20 0 genome.wustl.edu 37 14 102676053 102676053 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 102676053 102676053 C T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known nonsense c.1639 p.R547* 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 151 0 0 76 34 30.9091 ANKRD9 0 genome.wustl.edu 37 14 102973383 102973383 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 102973383 102973383 C T SNP ANKRD9 ENST00000286918 human ensembl 74_37 -1 known missense c.844 p.A282T 0.867 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD9 HGNC ENSG00000156381 12 0 0 10 5 33.3333 TRAF3 0 genome.wustl.edu 37 14 103341991 103341991 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 103341991 103341991 A C SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known missense c.328 p.I110L 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 184 0 0 104 54 34.1772 CDC42BPB 0 genome.wustl.edu 37 14 103447311 103447311 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 103447311 103447311 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.939 p.A313 0.019 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 118 0 0 67 32 32.3232 CDC42BPB 0 genome.wustl.edu 37 14 103474857 103474857 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 103474857 103474857 A C SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.303 p.I101M 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 85 0 0 31 28 47.4576 CDC42BPB 0 genome.wustl.edu 37 14 103474861 103474861 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 103474861 103474861 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.299 p.R100Q 0.998 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 89 0 0 45 13 22.4138 EIF5 0 genome.wustl.edu 37 14 103803470 103803470 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 103803470 103803470 G A SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known silent c.345 p.K115 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 92 0 0 49 23 31.9444 MARK3 0 genome.wustl.edu 37 14 103871548 103871548 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 103871548 103871548 G A SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.187 p.G63S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 91 0 0 37 24 39.3443 XRCC3 0 genome.wustl.edu 37 14 104174984 104174984 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 104174984 104174984 G A SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known missense c.68 p.S23L 0.912 pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 62 0 0 43 22 33.8462 TDRD9 0 genome.wustl.edu 37 14 104484456 104484456 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 104484456 104484456 C A SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.2359 p.L787I 0.231 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 21 0 0 8 7 46.6667 ASPG 0 genome.wustl.edu 37 14 104570738 104570738 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 104570738 104570738 G A SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.851 p.R284Q 0.049 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 83 0 0 32 15 31.9149 CEP170B 0 genome.wustl.edu 37 14 105360682 105360682 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 105360682 105360682 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.4440 p.E1480 0.998 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 108 0 0 45 26 36.6197 AHNAK2 0 genome.wustl.edu 37 14 105410777 105410777 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 105410777 105410777 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11011 p.D3671N 0.731 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 379 0 0 175 89 33.7121 OR11H12 0 genome.wustl.edu 37 14 19378253 19378253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 19378253 19378253 A C SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.660 p.L220F 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 48 0 0 37 8 17.7778 POTEM 0 genome.wustl.edu 37 14 20002239 20002239 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20002239 20002239 T G SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.1183 p.N395H 0.235 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 45 0 0 29 4 12.1212 POTEM 0 genome.wustl.edu 37 14 20019848 20019848 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20019848 20019848 C T SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.373 p.D125N 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 288 0 0 147 74 33.4842 OR4Q3 0 genome.wustl.edu 37 14 20215602 20215602 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20215602 20215602 G T SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.16 p.D6Y 0.026 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 81 0 0 52 27 34.1772 OR4K2 0 genome.wustl.edu 37 14 20344641 20344641 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20344641 20344641 C T SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.215 p.S72F 0.797 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 OR4K2 HGNC ENSG00000165762 320 0 0 181 96 34.657 OR4K5 0 genome.wustl.edu 37 14 20388847 20388847 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20388847 20388847 T C SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.82 p.F28L 0.130 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 94 0 0 86 41 32.2835 OR4K1 0 genome.wustl.edu 37 14 20403995 20403995 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20403995 20403995 C T SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.170 p.S57F 0.958 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 OR4K1 HGNC ENSG00000155249 198 0 0 146 61 29.4686 OR4K15 0 genome.wustl.edu 37 14 20444053 20444053 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20444053 20444053 T A SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.376 p.F126I 0.349 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 235 0 0 127 66 34.1969 OR4K17 0 genome.wustl.edu 37 14 20586157 20586157 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20586157 20586157 C T SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.592 p.P198S 0.084 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 OR4K17 HGNC ENSG00000176230 216 0 0 119 63 34.6154 OR4N5 0 genome.wustl.edu 37 14 20612757 20612757 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20612757 20612757 C T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.863 p.T288M 0.961 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 209 0 0 112 59 34.5029 OR11H6 0 genome.wustl.edu 37 14 20692668 20692668 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20692668 20692668 C T SNP OR11H6 ENST00000315519 human ensembl 74_37 +1 known missense c.800 p.S267F 0.341 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H6 HGNC ENSG00000176219 138 0 0 62 35 36.0825 PARP2 0 genome.wustl.edu 37 14 20825671 20825671 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20825671 20825671 C T SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known silent c.1584 p.F528 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 99 0 0 64 22 25.5814 TEP1 0 genome.wustl.edu 37 14 20848099 20848099 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20848099 20848099 C A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.5117 p.R1706I 0.552 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 75 0 0 25 21 45.6522 TEP1 0 genome.wustl.edu 37 14 20848577 20848577 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20848577 20848577 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.4820 p.R1607H 0.266 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 107 0 0 77 5 6.09756 TEP1 0 genome.wustl.edu 37 14 20854649 20854649 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 20854649 20854649 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.2818 p.D940N 1.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 54 0 0 32 15 31.9149 RNASE4 0 genome.wustl.edu 37 14 21167907 21167907 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21167907 21167907 C T SNP RNASE4 ENST00000304704 human ensembl 74_37 +1 known missense c.377 p.A126V 0.001 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000258818 253 0 0 132 48 26.6667 EDDM3A 0 genome.wustl.edu 37 14 21216071 21216071 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21216071 21216071 A G SNP EDDM3A ENST00000326842 human ensembl 74_37 +1 known missense c.332 p.N111S 0.000 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC ENSG00000181562 95 0 0 54 32 37.2093 METTL17 0 genome.wustl.edu 37 14 21458737 21458737 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21458737 21458737 A C SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.344 p.K115T 0.865 NULL pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 74 0 0 35 16 31.3725 RNASE7 0 genome.wustl.edu 37 14 21511513 21511513 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21511513 21511513 A T SNP RNASE7 ENST00000298690 human ensembl 74_37 +1 known missense c.362 p.Y121F 0.560 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE7 HGNC ENSG00000165799 180 0 0 129 24 15.6863 ARHGEF40 0 genome.wustl.edu 37 14 21541393 21541393 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21541393 21541393 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.193 p.E65K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 34 0 0 12 9 42.8571 RPGRIP1 0 genome.wustl.edu 37 14 21756217 21756217 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21756217 21756217 A G SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.82 p.K28E 0.196 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 144 0 0 83 36 30.2521 RPGRIP1 0 genome.wustl.edu 37 14 21792917 21792917 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21792917 21792917 G A SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.1903 p.A635T 1.000 pfam_DUF3250 pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 179 0 0 100 46 31.5068 CHD8 0 genome.wustl.edu 37 14 21882509 21882509 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21882509 21882509 A C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known nonsense c.2093 p.L698* 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 11 0 0 2 3 60 SALL2 0 genome.wustl.edu 37 14 21992741 21992741 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 21992741 21992741 T G SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.1121 p.K374T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 102 0 0 47 27 36.4865 OR10G3 0 genome.wustl.edu 37 14 22038511 22038511 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 22038511 22038511 T C SNP OR10G3 ENST00000303532 human ensembl 74_37 -1 known missense c.365 p.D122G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G3 HGNC ENSG00000169208 87 0 0 52 33 38.8235 MMP14 0 genome.wustl.edu 37 14 23314568 23314568 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23314568 23314568 C T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known silent c.1410 p.S470 0.091 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 59 0 0 22 11 33.3333 PSMB11 0 genome.wustl.edu 37 14 23512164 23512164 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23512164 23512164 C A SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.730 p.L244M 0.918 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 70 0 0 32 15 31.9149 ACIN1 0 genome.wustl.edu 37 14 23551042 23551042 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23551042 23551042 T G SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.614 p.K205T 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 104 0 0 72 27 27.2727 HOMEZ 0 genome.wustl.edu 37 14 23745818 23745818 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23745818 23745818 T C SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.625 p.T209A 0.002 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 147 0 0 101 47 31.7568 MYH6 0 genome.wustl.edu 37 14 23869930 23869930 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23869930 23869930 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.1398 p.F466 0.998 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 96 0 0 55 27 32.9268 MYH6 0 genome.wustl.edu 37 14 23876239 23876239 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23876239 23876239 T G SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.194 p.N65T 0.879 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 620 1 0.161031 284 120 29.703 MYH7 0 genome.wustl.edu 37 14 23885495 23885495 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23885495 23885495 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4671 p.K1557N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 232 0 0 98 52 34.6667 MYH7 0 genome.wustl.edu 37 14 23893979 23893979 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23893979 23893979 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2678 p.A893V 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 79 0 0 26 47 64.3836 NGDN 0 genome.wustl.edu 37 14 23946730 23946730 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 23946730 23946730 A C SNP NGDN ENST00000408901 human ensembl 74_37 +1 known missense c.889 p.K297Q 1.000 NULL pfam_Sas10/Utp3/C1D - no_errors NGDN HGNC ENSG00000129460 71 0 0 35 13 27.0833 AP1G2 0 genome.wustl.edu 37 14 24034396 24034396 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 24034396 24034396 G A SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.754 p.R252C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 53 0 0 27 14 34.1463 LRRC16B 0 genome.wustl.edu 37 14 24537875 24537875 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 24537875 24537875 C A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.3765 p.L1255 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 69 0 0 37 27 42.1875 GZMB 0 genome.wustl.edu 37 14 25100413 25100413 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 25100413 25100413 G A SNP GZMB ENST00000382542 human ensembl 74_37 -1 known missense c.710 p.S237F 0.965 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMB HGNC ENSG00000100453 87 0 0 55 15 21.4286 NOVA1 0 genome.wustl.edu 37 14 26949193 26949193 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 26949193 26949193 C T SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.437 p.R146H 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 186 1 0.534759 104 61 36.9697 NOVA1 0 genome.wustl.edu 37 14 26949194 26949194 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 26949194 26949194 G A SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.436 p.R146C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 191 0 0 116 51 30.5389 BNIP3P1 0 genome.wustl.edu 37 14 28734250 28734250 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 28734250 28734250 T G SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors BNIP3P1 HGNC ENSG00000197358 64 0 0 28 15 34.8837 PRKD1 0 genome.wustl.edu 37 14 30068276 30068276 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 30068276 30068276 T C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2123 p.K708R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 125 0 0 86 45 34.3511 PRKD1 0 genome.wustl.edu 37 14 30100207 30100207 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 30100207 30100207 A C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1413 p.I471M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 80 0 0 53 18 25.3521 PRKD1 0 genome.wustl.edu 37 14 30107713 30107713 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 30107713 30107713 C T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.967 p.E323K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 110 0 0 91 6 6.18557 G2E3 0 genome.wustl.edu 37 14 31085717 31085717 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 31085717 31085717 A C SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.2098 p.S700R 0.958 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 60 0 0 39 26 40 HECTD1 0 genome.wustl.edu 37 14 31581680 31581680 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 31581680 31581680 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.6220 p.L2074 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 72 0 0 31 12 27.907 HECTD1 0 genome.wustl.edu 37 14 31590701 31590701 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 31590701 31590701 C T SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.5126 p.R1709H 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 63 0 0 48 17 26.1538 HECTD1 0 genome.wustl.edu 37 14 31641112 31641112 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 31641112 31641112 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.1287 p.S429 0.980 superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 50 0 0 28 11 28.2051 HEATR5A 0 genome.wustl.edu 37 14 31816982 31816982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 31816982 31816982 G A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.2822 p.A941V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 31 0 0 38 12 24 AKAP6 0 genome.wustl.edu 37 14 33016131 33016131 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 33016131 33016131 T G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.2272 p.S758A 0.979 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 148 0 0 84 34 28.8136 AKAP6 0 genome.wustl.edu 37 14 33293854 33293854 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 33293854 33293854 G T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.6835 p.D2279Y 0.009 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 120 0 0 64 41 39.0476 NPAS3 0 genome.wustl.edu 37 14 33684409 33684409 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 33684409 33684409 G T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.162 p.E54D 1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 93 0 0 59 19 24.359 BAZ1A 0 genome.wustl.edu 37 14 35222877 35222877 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 35222877 35222877 G A SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.4508 p.S1503L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 65 0 0 28 23 45.098 SRP54 0 genome.wustl.edu 37 14 35482598 35482598 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 35482598 35482598 C T SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.683 p.A228V 1.000 pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 121 0 0 60 21 25.9259 RALGAPA1 0 genome.wustl.edu 37 14 36096544 36096544 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 36096544 36096544 C T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known silent c.5232 p.Q1744 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 104 0 0 80 34 29.8246 RALGAPA1 0 genome.wustl.edu 37 14 36123671 36123671 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 36123671 36123671 T C SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.4132 p.T1378A 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 42 0 0 23 21 47.7273 PAX9 0 genome.wustl.edu 37 14 37145483 37145483 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 37145483 37145483 G A SNP PAX9 ENST00000554201 human ensembl 74_37 +1 putative missense c.281 p.R94H 0.993 NULL NULL - no_errors PAX9 HGNC ENSG00000198807 209 0 0 128 46 26.4368 SLC25A21 0 genome.wustl.edu 37 14 37283144 37283144 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 37283144 37283144 C T SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.182 p.R61Q 0.421 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 56 0 0 53 24 31.1688 MIPOL1 0 genome.wustl.edu 37 14 37736309 37736309 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 37736309 37736309 G A SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known silent c.186 p.T62 0.051 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 88 0 0 73 27 27 MIPOL1 0 genome.wustl.edu 37 14 37737950 37737950 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 37737950 37737950 A C SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known silent c.339 p.I113 0.792 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 145 0 0 109 75 40.7609 CLEC14A 0 genome.wustl.edu 37 14 38724535 38724535 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 38724535 38724535 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known silent c.693 p.I231 0.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 360 0 0 175 83 32.1705 SEC23A 0 genome.wustl.edu 37 14 39556144 39556144 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 39556144 39556144 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known silent c.672 p.P224 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 93 0 0 50 24 32.4324 MIA2 0 genome.wustl.edu 37 14 39716573 39716573 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 39716573 39716573 G A SNP MIA2 ENST00000556784 human ensembl 74_37 +1 putative silent c.792 p.E264 0.914 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 119 0 0 69 33 32.3529 MIA2 0 genome.wustl.edu 37 14 39716613 39716613 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 39716613 39716613 G T SNP MIA2 ENST00000556784 human ensembl 74_37 +1 putative nonsense c.832 p.E278* 0.228 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 138 1 0.719424 76 41 35.0427 FBXO33 0 genome.wustl.edu 37 14 39870682 39870682 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 39870682 39870682 C T SNP FBXO33 ENST00000298097 human ensembl 74_37 -1 known missense c.1094 p.R365Q 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO33 HGNC ENSG00000165355 121 0 0 71 36 33.6449 FBXO33 0 genome.wustl.edu 37 14 39870866 39870866 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 39870866 39870866 G A SNP FBXO33 ENST00000298097 human ensembl 74_37 -1 known nonsense c.910 p.R304* 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO33 HGNC ENSG00000165355 145 0 0 90 45 33.3333 FAM179B 0 genome.wustl.edu 37 14 45431763 45431763 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 45431763 45431763 A C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.139 p.N47H 0.988 NULL superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 58 0 0 33 18 35.2941 FAM179B 0 genome.wustl.edu 37 14 45432816 45432816 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 45432816 45432816 T C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.1192 p.L398 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 139 0 0 87 38 30.4 FAM179B 0 genome.wustl.edu 37 14 45433587 45433587 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 45433587 45433587 G T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known nonsense c.1963 p.G655* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 65 0 0 42 23 35.3846 FKBP3 0 genome.wustl.edu 37 14 45587237 45587237 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 45587237 45587237 T C SNP FKBP3 ENST00000216330 human ensembl 74_37 -1 known missense c.614 p.D205G 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP3 HGNC ENSG00000100442 177 0 0 94 46 32.8571 FANCM 0 genome.wustl.edu 37 14 45606351 45606351 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 45606351 45606351 T C SNP FANCM ENST00000267430 human ensembl 74_37 +1 known silent c.588 p.N196 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 92 0 0 49 20 28.9855 FANCM 0 genome.wustl.edu 37 14 45618133 45618133 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 45618133 45618133 A C SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.853 p.K285Q 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 55 0 0 33 21 38.8889 RPL10L 0 genome.wustl.edu 37 14 47120402 47120402 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 47120402 47120402 C T SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.538 p.E180K 0.997 pirsf_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 140 0 0 83 41 33.0645 MDGA2 0 genome.wustl.edu 37 14 47342659 47342659 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 47342659 47342659 T C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2729 p.Y910C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 120 0 0 73 38 34.2342 MDGA2 0 genome.wustl.edu 37 14 47343401 47343401 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 47343401 47343401 C A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known nonsense c.2440 p.E814* 1.000 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 45 0 0 33 21 38.8889 MDGA2 0 genome.wustl.edu 37 14 47600940 47600940 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 47600940 47600940 G A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.902 p.S301L 0.995 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 111 0 0 73 36 33.0275 ENSG00000258377 0 genome.wustl.edu 37 14 50087971 50087971 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 50087971 50087971 C A SNP ENSG00000258377 ENST00000555043 human ensembl 74_37 -1 known rna NULL NULL 0.129 - - - no_errors RP11-649E7.5 Clone_based_vega_gene ENSG00000258377 57 0 0 42 19 31.1475 DNAAF2 0 genome.wustl.edu 37 14 50100024 50100024 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 50100024 50100024 A G SNP DNAAF2 ENST00000298292 human ensembl 74_37 -1 known missense c.1844 p.V615A 0.584 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 62 0 0 37 13 26 ATL1 0 genome.wustl.edu 37 14 51099045 51099045 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 51099045 51099045 G T SNP ATL1 ENST00000357032 human ensembl 74_37 +1 known missense c.1665 p.K555N 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 41 0 0 35 12 25.5319 NIN 0 genome.wustl.edu 37 14 51239123 51239123 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 51239123 51239123 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.877 p.R293W 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 75 0 0 53 21 28.3784 ABHD12B 0 genome.wustl.edu 37 14 51345491 51345491 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 51345491 51345491 G T SNP ABHD12B ENST00000382029 human ensembl 74_37 +1 known nonsense c.133 p.E45* 1.000 NULL NULL - no_errors ABHD12B HGNC ENSG00000131969 97 0 0 58 31 34.8315 TRIM9 0 genome.wustl.edu 37 14 51475949 51475949 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 51475949 51475949 A C SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1155 p.I385M 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 106 0 0 53 26 32.9114 FRMD6 0 genome.wustl.edu 37 14 52174833 52174833 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 52174833 52174833 A G SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.596 p.H199R 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 79 0 0 52 14 21.2121 PTGER2 0 genome.wustl.edu 37 14 52793970 52793970 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 52793970 52793970 G A SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known missense c.875 p.R292Q 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 53 0 0 44 22 33.3333 FERMT2 0 genome.wustl.edu 37 14 53331516 53331516 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 53331516 53331516 G T SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known silent c.1329 p.L443 1.000 pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 155 0 0 146 49 25.1282 GMFB 0 genome.wustl.edu 37 14 54950455 54950455 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 54950455 54950455 C T SNP GMFB ENST00000358056 human ensembl 74_37 -1 known missense c.34 p.E12K 1.000 smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFB HGNC ENSG00000197045 44 0 0 41 20 32.7869 WDHD1 0 genome.wustl.edu 37 14 55455824 55455824 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 55455824 55455824 T G SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.1448 p.N483T 1.000 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 124 0 0 152 9 5.59006 ATG14 0 genome.wustl.edu 37 14 55844739 55844739 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 55844739 55844739 T G SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known missense c.1049 p.K350T 1.000 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 49 0 0 53 4 7.01754 KTN1 0 genome.wustl.edu 37 14 56078947 56078947 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 56078947 56078947 A C SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.181 p.K61Q 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 40 0 0 35 15 30 KTN1 0 genome.wustl.edu 37 14 56099965 56099965 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 56099965 56099965 C T SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.1234 p.R412C 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 43 0 0 25 19 43.1818 KTN1 0 genome.wustl.edu 37 14 56117309 56117309 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 56117309 56117309 C T SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.2519 p.A840V 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 102 0 0 57 25 30.4878 KTN1 0 genome.wustl.edu 37 14 56137449 56137449 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 56137449 56137449 T G SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.3270 p.S1090R 0.995 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 61 0 0 40 25 38.4615 TMEM260 0 genome.wustl.edu 37 14 57083995 57083995 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 57083995 57083995 A C SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.1036 p.K346Q 1.000 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 38 0 0 56 25 30.8642 TMEM260 0 genome.wustl.edu 37 14 57092214 57092214 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 57092214 57092214 T C SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.1513 p.F505L 1.000 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 99 0 0 56 28 33.3333 EXOC5 0 genome.wustl.edu 37 14 57675371 57675371 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 57675371 57675371 G A SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known missense c.2083 p.R695C 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 199 0 0 142 47 24.8677 ENSG00000258856 0 genome.wustl.edu 37 14 58097129 58097129 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 58097129 58097129 C A SNP ENSG00000258856 ENST00000600311 human ensembl 74_37 +1 known rna NULL NULL 0.893 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000258856 160 0 0 84 43 33.8583 ARID4A 0 genome.wustl.edu 37 14 58814545 58814545 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 58814545 58814545 C T SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known silent c.1353 p.I451 0.075 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 78 0 0 64 27 29.6703 ARID4A 0 genome.wustl.edu 37 14 58831856 58831856 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 58831856 58831856 C T SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known nonsense c.3049 p.R1017* 0.999 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 196 0 0 121 61 33.5165 TIMM9 0 genome.wustl.edu 37 14 58875730 58875730 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 58875730 58875730 A C SNP TIMM9 ENST00000216463 human ensembl 74_37 -1 known rna NULL NULL 0.077 - - - no_errors TIMM9 HGNC ENSG00000100575 116 0 0 58 30 34.0909 KIAA0586 0 genome.wustl.edu 37 14 58932632 58932632 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 58932632 58932632 T G SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.2094 p.H698Q 0.005 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 112 0 0 81 36 30.7692 KIAA0586 0 genome.wustl.edu 37 14 58987853 58987853 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 58987853 58987853 G A SNP KIAA0586 ENST00000557392 human ensembl 74_37 +1 known rna NULL NULL 0.858 - - - no_errors KIAA0586 HGNC ENSG00000100578 15 0 0 15 5 25 GPR135 0 genome.wustl.edu 37 14 59930948 59930948 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 59930948 59930948 C T SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.997 p.V333I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 65 0 0 32 9 21.9512 JKAMP 0 genome.wustl.edu 37 14 59965469 59965469 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 59965469 59965469 C T SNP JKAMP ENST00000555491 human ensembl 74_37 +1 known missense c.346 p.R116C 0.983 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 32 0 0 15 6 28.5714 RTN1 0 genome.wustl.edu 37 14 60063484 60063484 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 60063484 60063484 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.2310 p.G770 0.107 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 167 1 0.595238 88 33 27.2727 DHRS7 0 genome.wustl.edu 37 14 60619866 60619866 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 60619866 60619866 A G SNP DHRS7 ENST00000216500 human ensembl 74_37 -1 known missense c.424 p.S142P 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7 HGNC ENSG00000100612 115 0 0 86 32 27.1186 C14orf39 0 genome.wustl.edu 37 14 60921733 60921733 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 60921733 60921733 T C SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.1489 p.I497V 0.995 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 50 0 0 62 32 34.0426 C14orf39 0 genome.wustl.edu 37 14 60950485 60950485 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 60950485 60950485 C T SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.157 p.E53K 0.999 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 27 0 0 32 13 28.8889 SIX4 0 genome.wustl.edu 37 14 61180839 61180839 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 61180839 61180839 G T SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known missense c.1632 p.F544L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 78 0 0 42 17 28.8136 HIF1A 0 genome.wustl.edu 37 14 62207347 62207347 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 62207347 62207347 T C SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known splice_site c.1731+2 e11+2 1.000 - - - no_errors HIF1A HGNC ENSG00000100644 67 0 0 53 18 25.3521 HIF1A 0 genome.wustl.edu 37 14 62207893 62207893 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 62207893 62207893 G A SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.2152 p.A718T 0.983 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 86 0 0 53 21 28.3784 SYT16 0 genome.wustl.edu 37 14 62567180 62567180 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 62567180 62567180 C T SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1693 p.R565W 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 - no_errors SYT16 HGNC ENSG00000139973 32 0 0 18 7 28 RHOJ 0 genome.wustl.edu 37 14 63671620 63671620 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 63671620 63671620 C T SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known silent c.33 p.C11 0.223 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 39 0 0 31 12 27.907 PPP2R5E 0 genome.wustl.edu 37 14 64006376 64006376 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64006376 64006376 A G SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known missense c.28 p.S10P 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 113 0 0 68 17 20 SYNE2 0 genome.wustl.edu 37 14 64408676 64408676 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64408676 64408676 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.311 p.R104Q 0.510 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 63 0 0 45 18 28.5714 SYNE2 0 genome.wustl.edu 37 14 64453263 64453263 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64453263 64453263 A C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.2241 p.E747D 0.035 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 116 0 0 65 51 43.9655 SYNE2 0 genome.wustl.edu 37 14 64460662 64460662 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64460662 64460662 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.2756 p.S919N 0.989 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 106 0 0 91 35 27.7778 SYNE2 0 genome.wustl.edu 37 14 64461803 64461803 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64461803 64461803 A C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.2823 p.K941N 0.799 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 23 0 0 18 18 50 SYNE2 0 genome.wustl.edu 37 14 64461861 64461861 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64461861 64461861 A C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.2881 p.N961H 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 29 0 0 48 4 7.69231 SYNE2 0 genome.wustl.edu 37 14 64473812 64473812 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64473812 64473812 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.4449 p.E1483D 0.878 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 166 0 0 112 50 30.8642 SYNE2 0 genome.wustl.edu 37 14 64542723 64542723 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64542723 64542723 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known nonsense c.10927 p.R3643* 0.995 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 69 0 0 45 20 30.7692 SYNE2 0 genome.wustl.edu 37 14 64588782 64588782 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64588782 64588782 T G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.13211 p.F4404C 0.967 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 100 0 0 74 48 39.3443 MTHFD1 0 genome.wustl.edu 37 14 64915014 64915014 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 64915014 64915014 T G SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known missense c.2258 p.V753G 0.997 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 84 0 0 65 6 8.4507 PPP1R36 0 genome.wustl.edu 37 14 65054078 65054078 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 65054078 65054078 T C SNP PPP1R36 ENST00000298705 human ensembl 74_37 +1 known missense c.878 p.F293S 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 53 0 0 38 18 32.1429 PLEKHG3 0 genome.wustl.edu 37 14 65198128 65198128 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 65198128 65198128 A G SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.899 p.Y300C 1.000 pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 114 0 0 48 25 34.2466 PLEKHH1 0 genome.wustl.edu 37 14 68040045 68040045 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 68040045 68040045 C T SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.1781 p.T594M 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 100 0 0 58 11 15.942 PIGH 0 genome.wustl.edu 37 14 68060613 68060613 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 68060613 68060613 A G SNP PIGH ENST00000558001 human ensembl 74_37 -1 known missense c.232 p.S78P 1.000 NULL NULL - no_errors PIGH HGNC ENSG00000100564 44 0 0 36 15 29.4118 SLC10A1 0 genome.wustl.edu 37 14 70252992 70252992 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 70252992 70252992 G A SNP SLC10A1 ENST00000216540 human ensembl 74_37 -1 known missense c.389 p.A130V 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 118 0 0 65 23 26.1364 SLC8A3 0 genome.wustl.edu 37 14 70633946 70633946 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 70633946 70633946 G T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known silent c.1194 p.V398 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 177 0 0 130 66 33.6735 ADAM21P1 0 genome.wustl.edu 37 14 70713935 70713935 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 70713935 70713935 A C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.847 - - - no_errors ADAM21P1 HGNC ENSG00000235812 137 0 0 117 19 13.9706 ADAM21P1 0 genome.wustl.edu 37 14 70713986 70713986 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 70713986 70713986 C T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.553 - - - no_errors ADAM21P1 HGNC ENSG00000235812 178 0 0 87 36 29.2683 ADAM21 0 genome.wustl.edu 37 14 70924659 70924659 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 70924659 70924659 T G SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.443 p.I148S 0.049 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 60 0 0 37 15 28.8462 ADAM20 0 genome.wustl.edu 37 14 70989418 70989418 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 70989418 70989418 T G SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known missense c.2207 p.N736T 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 214 0 0 126 42 25 PCNX 0 genome.wustl.edu 37 14 71443701 71443701 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 71443701 71443701 A G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.647 p.D216G 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 119 0 0 63 34 35.0515 PCNX 0 genome.wustl.edu 37 14 71455316 71455316 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 71455316 71455316 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.2344 p.R782C 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 189 0 0 113 52 31.5152 PCNX 0 genome.wustl.edu 37 14 71555976 71555976 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 71555976 71555976 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known nonsense c.5506 p.R1836* 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 103 0 0 78 38 32.7586 SIPA1L1 0 genome.wustl.edu 37 14 72169083 72169083 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 72169083 72169083 C T SNP SIPA1L1 ENST00000554874 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SIPA1L1 HGNC ENSG00000197555 101 0 0 56 24 30 RGS6 0 genome.wustl.edu 37 14 72818878 72818878 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 72818878 72818878 T G SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.160 p.S54A 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 50 0 0 28 11 28.2051 RGS6 0 genome.wustl.edu 37 14 72941367 72941367 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 72941367 72941367 G A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.653 p.R218Q 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 48 0 0 37 18 32.7273 RGS6 0 genome.wustl.edu 37 14 72941375 72941375 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 72941375 72941375 C T SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known nonsense c.661 p.R221* 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 50 0 0 36 16 30.7692 PSEN1 0 genome.wustl.edu 37 14 73685857 73685857 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 73685857 73685857 T G SNP PSEN1 ENST00000324501 human ensembl 74_37 +1 known missense c.1264 p.L422V 0.584 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 251 0 0 139 73 34.434 PAPLN 0 genome.wustl.edu 37 14 73732141 73732141 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 73732141 73732141 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.3189 p.M1063I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 133 0 0 70 28 28.5714 ELMSAN1 0 genome.wustl.edu 37 14 74186171 74186171 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 74186171 74186171 A G SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2971 p.S991P 0.821 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 34 0 0 14 9 39.1304 FAM161B 0 genome.wustl.edu 37 14 74404367 74404367 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 74404367 74404367 C A SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known nonsense c.1792 p.E598* 1.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 142 0 0 94 57 37.7483 FAM161B 0 genome.wustl.edu 37 14 74404379 74404379 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 74404379 74404379 C A SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known nonsense c.1780 p.E594* 1.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 130 0 0 93 40 30.0752 YLPM1 0 genome.wustl.edu 37 14 75266073 75266073 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 75266073 75266073 A G SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.4073 p.E1358G 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 238 0 0 158 70 30.7018 PROX2 0 genome.wustl.edu 37 14 75329808 75329808 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 75329808 75329808 T G SNP PROX2 ENST00000445876 human ensembl 74_37 -1 known missense c.730 p.K244Q 1.000 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 82 0 0 38 28 42.4242 PROX2 0 genome.wustl.edu 37 14 75330161 75330161 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 75330161 75330161 C A SNP PROX2 ENST00000445876 human ensembl 74_37 -1 known missense c.377 p.R126M 0.859 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 39 0 0 17 10 37.037 MLH3 0 genome.wustl.edu 37 14 75513607 75513607 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 75513607 75513607 C A SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.2752 p.D918Y 0.401 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 216 0 0 131 71 35.1485 ZC2HC1C 0 genome.wustl.edu 37 14 75537991 75537991 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 75537991 75537991 A C SNP ZC2HC1C ENST00000524913 human ensembl 74_37 +1 known missense c.715 p.K239Q 1.000 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 87 0 0 45 35 43.75 FOS 0 genome.wustl.edu 37 14 75747600 75747600 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 75747600 75747600 A G SNP FOS ENST00000303562 human ensembl 74_37 +1 known missense c.616 p.I206V 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOS HGNC ENSG00000170345 199 0 0 104 41 28.2759 TTLL5 0 genome.wustl.edu 37 14 76330084 76330084 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 76330084 76330084 T C SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.3401 p.V1134A 0.972 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 136 0 0 89 29 24.5763 TTLL5 0 genome.wustl.edu 37 14 76368544 76368544 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 76368544 76368544 T G SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.3800 p.F1267C 0.176 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 99 0 0 44 21 32.3077 TTLL5 0 genome.wustl.edu 37 14 76420869 76420869 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 76420869 76420869 G T SNP TTLL5 ENST00000554972 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TTLL5 HGNC ENSG00000119685 82 0 0 48 22 31.4286 IFT43 0 genome.wustl.edu 37 14 76549621 76549621 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 76549621 76549621 G A SNP IFT43 ENST00000238628 human ensembl 74_37 +1 known missense c.511 p.E171K 1.000 NULL NULL - no_errors IFT43 HGNC ENSG00000119650 50 0 0 30 10 25 ESRRB 0 genome.wustl.edu 37 14 76905998 76905998 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 76905998 76905998 G A SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known missense c.302 p.R101H 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt 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 - no_errors ESRRB HGNC ENSG00000119715 89 0 0 43 18 29.5082 VASH1 0 genome.wustl.edu 37 14 77236322 77236322 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 77236322 77236322 T G SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known missense c.326 p.V109G 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 187 0 0 98 32 24.6154 KIAA1737 0 genome.wustl.edu 37 14 77580408 77580408 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 77580408 77580408 G A SNP KIAA1737 ENST00000361786 human ensembl 74_37 +1 known missense c.947 p.R316H 1.000 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 109 0 0 52 21 28.7671 POMT2 0 genome.wustl.edu 37 14 77746389 77746389 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 77746389 77746389 A G SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known missense c.1760 p.F587S 1.000 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 84 0 0 55 7 11.2903 SAMD15 0 genome.wustl.edu 37 14 77844125 77844125 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 77844125 77844125 T G SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.364 p.L122V 0.021 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 245 0 0 143 79 35.5856 NOXRED1 0 genome.wustl.edu 37 14 77873032 77873032 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 77873032 77873032 T G SNP NOXRED1 ENST00000298358 human ensembl 74_37 -1 known missense c.717 p.E239D 0.021 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 97 0 0 52 33 38.8235 SNW1 0 genome.wustl.edu 37 14 78198843 78198843 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 78198843 78198843 G T SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known nonsense c.876 p.Y292* 1.000 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 114 0 0 72 30 29.4118 NRXN3 0 genome.wustl.edu 37 14 78709752 78709752 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 78709752 78709752 G T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.316 p.D106Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 19 0 0 5 7 58.3333 NRXN3 0 genome.wustl.edu 37 14 79454449 79454449 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 79454449 79454449 C A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3194 p.S1065Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 132 0 0 81 35 30.1724 CEP128 0 genome.wustl.edu 37 14 81259399 81259399 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 81259399 81259399 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.1265 p.R422Q 0.996 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 120 0 0 67 29 30.2083 TSHR 0 genome.wustl.edu 37 14 81606118 81606118 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 81606118 81606118 T C SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.788 p.L263P 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 80 0 0 50 24 32.4324 FLRT2 0 genome.wustl.edu 37 14 86088405 86088405 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 86088405 86088405 C A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.547 p.Q183K 1.000 smart_Leu-rich_rpt_typical-subtyp 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 100 1 0.990099 44 21 32.3077 GALC 0 genome.wustl.edu 37 14 88416242 88416242 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 88416242 88416242 T C SNP GALC ENST00000261304 human ensembl 74_37 -1 known missense c.1285 p.K429E 1.000 pfam_Glyco_hydro_59 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 92 0 0 71 32 31.068 PTPN21 0 genome.wustl.edu 37 14 88945316 88945316 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 88945316 88945316 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2459 p.S820L 0.998 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 119 0 0 67 35 34.3137 EML5 0 genome.wustl.edu 37 14 89087177 89087177 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 89087177 89087177 C A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known nonsense c.5296 p.E1766* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 16 0 0 13 6 31.5789 TDP1 0 genome.wustl.edu 37 14 90429695 90429695 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 90429695 90429695 C T SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known silent c.237 p.S79 0.000 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 157 0 0 103 43 29.4521 KCNK13 0 genome.wustl.edu 37 14 90651298 90651298 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 90651298 90651298 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.1178 p.A393V 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 43 0 0 23 10 30.303 CCDC88C 0 genome.wustl.edu 37 14 91760555 91760555 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 91760555 91760555 C A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4074 p.E1358D 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 263 0 0 124 65 34.3915 CCDC88C 0 genome.wustl.edu 37 14 91779779 91779779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 91779779 91779779 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.2381 p.A794V 0.038 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 54 0 0 33 14 29.7872 CATSPERB 0 genome.wustl.edu 37 14 92088254 92088254 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 92088254 92088254 T G SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.1958 p.D653A 0.670 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 43 0 0 26 17 39.5349 CATSPERB 0 genome.wustl.edu 37 14 92139258 92139258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 92139258 92139258 G A SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.1081 p.L361F 1.000 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 154 0 0 117 55 31.9767 TRIP11 0 genome.wustl.edu 37 14 92491676 92491676 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 92491676 92491676 C T SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.290 p.R97Q 0.883 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 37 0 0 31 8 20.5128 ATXN3 0 genome.wustl.edu 37 14 92530710 92530710 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 92530710 92530710 G T SNP ATXN3 ENST00000545170 human ensembl 74_37 -1 known missense c.1067 p.S356Y 1.000 pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 137 0 0 79 38 32.4786 GOLGA5 0 genome.wustl.edu 37 14 93263988 93263988 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 93263988 93263988 A C SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known missense c.206 p.N69T 0.986 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 122 0 0 77 33 30 GOLGA5 0 genome.wustl.edu 37 14 93301978 93301978 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 93301978 93301978 C T SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known missense c.2020 p.R674C 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 58 0 0 33 10 23.2558 GOLGA5 0 genome.wustl.edu 37 14 93303754 93303754 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 93303754 93303754 G A SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known missense c.2075 p.R692Q 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 257 0 0 192 83 30.1818 C14orf142 0 genome.wustl.edu 37 14 93673210 93673210 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 93673210 93673210 T C SNP C14orf142 ENST00000306954 human ensembl 74_37 -1 known missense c.173 p.H58R 0.055 NULL NULL - no_errors C14orf142 HGNC ENSG00000170270 67 0 0 40 21 34.4262 C14orf142 0 genome.wustl.edu 37 14 93673258 93673258 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 93673258 93673258 T C SNP C14orf142 ENST00000306954 human ensembl 74_37 -1 known missense c.125 p.D42G 0.957 NULL NULL - no_errors C14orf142 HGNC ENSG00000170270 124 0 0 43 34 44.1558 UBR7 0 genome.wustl.edu 37 14 93686640 93686640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 93686640 93686640 G A SNP UBR7 ENST00000013070 human ensembl 74_37 +1 known missense c.1006 p.D336N 1.000 NULL pfam_Znf_N-recognin,superfamily_Znf_FYVE_PHD,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR7 HGNC ENSG00000012963 136 0 0 96 40 29.4118 UNC79 0 genome.wustl.edu 37 14 94071295 94071295 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94071295 94071295 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3808 p.E1270K 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 14 0 0 12 9 42.8571 UNC79 0 genome.wustl.edu 37 14 94088081 94088081 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94088081 94088081 C A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.4568 p.S1523Y 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 120 0 0 74 29 28.1553 FAM181A 0 genome.wustl.edu 37 14 94394942 94394942 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94394942 94394942 A G SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known missense c.497 p.Y166C 0.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 82 0 0 30 10 25 ASB2 0 genome.wustl.edu 37 14 94405676 94405676 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94405676 94405676 C T SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known silent c.1251 p.A417 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 89 0 0 45 18 28.5714 LINC00521 0 genome.wustl.edu 37 14 94464410 94464410 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94464410 94464410 C T SNP LINC00521 ENST00000314629 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00521 HGNC ENSG00000175699 28 0 0 20 10 33.3333 SERPINA11 0 genome.wustl.edu 37 14 94914614 94914614 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94914614 94914614 A C SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.498 p.F166L 0.290 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 285 0 0 113 71 38.587 SERPINA9 0 genome.wustl.edu 37 14 94929505 94929505 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94929505 94929505 G A SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known silent c.1233 p.F411 0.952 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 165 0 0 63 44 41.1215 ENSG00000256357 0 genome.wustl.edu 37 14 94930904 94930904 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94930904 94930904 G T SNP ENSG00000256357 ENST00000536735 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-349I1.2 Clone_based_vega_gene ENSG00000256357 9 0 0 5 5 50 SERPINA12 0 genome.wustl.edu 37 14 94964562 94964562 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 94964562 94964562 T G SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known missense c.173 p.K58T 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 237 0 0 104 73 41.2429 SERPINA4 0 genome.wustl.edu 37 14 95033396 95033396 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 95033396 95033396 C T SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known silent c.739 p.L247 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 94 0 0 57 20 25.974 CLMN 0 genome.wustl.edu 37 14 95660901 95660901 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 95660901 95660901 C T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.2741 p.R914Q 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 127 0 0 50 21 29.5775 SYNE3 0 genome.wustl.edu 37 14 95903210 95903210 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 95903210 95903210 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2485 p.A829T 0.455 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 153 0 0 63 37 37 GLRX5 0 genome.wustl.edu 37 14 96010292 96010292 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 96010292 96010292 G T SNP GLRX5 ENST00000331334 human ensembl 74_37 +1 known missense c.304 p.D102Y 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX5 HGNC ENSG00000182512 121 0 0 115 15 11.5385 BDKRB1 0 genome.wustl.edu 37 14 96730670 96730670 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 96730670 96730670 G A SNP BDKRB1 ENST00000216629 human ensembl 74_37 +1 known silent c.651 p.A217 0.156 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 104 0 0 64 28 30.4348 BDKRB1 0 genome.wustl.edu 37 14 96731182 96731182 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 96731182 96731182 T C SNP BDKRB1 ENST00000557122 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors BDKRB1 HGNC ENSG00000100739 26 0 0 17 9 34.6154 ATG2B 0 genome.wustl.edu 37 14 96788731 96788731 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 96788731 96788731 G T SNP ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.104 - - - no_errors ATG2B HGNC ENSG00000066739 17 0 0 8 6 42.8571 PAPOLA 0 genome.wustl.edu 37 14 97010496 97010496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 14 97010496 97010496 C T SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known missense c.1300 p.R434C 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 71 0 0 51 27 34.6154 ADAMTS17 0 genome.wustl.edu 37 15 100533305 100533305 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 100533305 100533305 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.2897 p.A966V 0.001 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 122 0 0 74 28 27.451 ADAMTS17 0 genome.wustl.edu 37 15 100672288 100672288 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 100672288 100672288 A G SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.1645 p.W549R 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 50 0 0 34 11 24.4444 ALDH1A3 0 genome.wustl.edu 37 15 101432808 101432808 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 101432808 101432808 T C SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.439 p.W147R 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 154 0 0 77 33 30 CHSY1 0 genome.wustl.edu 37 15 101775542 101775542 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 101775542 101775542 A C SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.561 p.S187R 0.993 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 97 0 0 57 44 43.5644 DNM1P47 0 genome.wustl.edu 37 15 102300166 102300166 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 102300166 102300166 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.201 - - - no_errors DNM1P47 HGNC ENSG00000259660 13 0 0 11 6 35.2941 OR4F6 0 genome.wustl.edu 37 15 102346172 102346172 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 102346172 102346172 G A SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known missense c.250 p.D84N 0.041 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 OR4F6 HGNC ENSG00000184140 350 0 0 217 93 30 OR4F6 0 genome.wustl.edu 37 15 102346599 102346599 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 102346599 102346599 A C SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known missense c.677 p.Q226P 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 OR4F6 HGNC ENSG00000184140 125 0 0 90 39 30.2326 OR4F6 0 genome.wustl.edu 37 15 102346821 102346821 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 102346821 102346821 G T SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known missense c.899 p.R300I 0.007 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 48 0 0 24 5 17.2414 CHEK2P2 0 genome.wustl.edu 37 15 20490503 20490503 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 20490503 20490503 G T SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 351 0 0 244 19 7.22433 CHEK2P2 0 genome.wustl.edu 37 15 20490520 20490520 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 20490520 20490520 G A SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 428 0 0 307 42 12.0344 CHEK2P2 0 genome.wustl.edu 37 15 20496610 20496610 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 20496610 20496610 G A SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.763 - - - no_errors CHEK2P2 HGNC ENSG00000259156 115 0 0 61 10 14.0845 HERC2P3 0 genome.wustl.edu 37 15 20642567 20642567 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 20642567 20642567 G A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors HERC2P3 HGNC ENSG00000180229 87 0 0 67 12 15.1899 HERC2P3 0 genome.wustl.edu 37 15 20663159 20663159 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 20663159 20663159 C T SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors HERC2P3 HGNC ENSG00000180229 36 0 0 18 14 43.75 OR4M2 0 genome.wustl.edu 37 15 22369069 22369069 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 22369069 22369069 G A SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.494 p.R165Q 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 529 0 0 397 69 14.8069 OR4N4 0 genome.wustl.edu 37 15 22382966 22382966 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 22382966 22382966 G A SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.494 p.R165H 0.058 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 222 0 0 130 33 20.2454 NIPA2 0 genome.wustl.edu 37 15 23014503 23014503 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 23014503 23014503 G A SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known silent c.222 p.F74 0.984 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 30 0 0 19 7 26.9231 GOLGA8I 0 genome.wustl.edu 37 15 23260833 23260833 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 23260833 23260833 G A SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known missense c.614 p.G205D 0.001 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 17 0 0 10 5 33.3333 ENSG00000259455 0 genome.wustl.edu 37 15 23412214 23412214 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 23412214 23412214 C A SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.243 p.K81N 0.037 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 99 0 0 50 17 25.3731 SNRPN 0 genome.wustl.edu 37 15 25222096 25222096 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 25222096 25222096 G T SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.352 p.V118L 0.685 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 111 0 0 54 24 30.7692 SNHG14 0 genome.wustl.edu 37 15 25226930 25226930 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 25226930 25226930 G A SNP SNHG14 ENST00000551631 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 22 0 0 7 9 56.25 SNORD115-8 0 genome.wustl.edu 37 15 25429502 25429502 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 25429502 25429502 A C SNP SNORD115-8 ENST00000363856 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SNORD115-8 HGNC ENSG00000200726 455 0 0 303 43 12.4277 SNHG14 0 genome.wustl.edu 37 15 25490503 25490503 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 25490503 25490503 T C SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 80 0 0 40 24 37.5 ATP10A 0 genome.wustl.edu 37 15 25961884 25961884 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 25961884 25961884 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1769 p.R590Q 0.994 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 168 0 0 79 39 33.0508 GABRB3 0 genome.wustl.edu 37 15 26866631 26866631 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 26866631 26866631 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.291 p.L97 0.674 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAb_rcpt,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 116 0 0 68 28 29.1667 GABRA5 0 genome.wustl.edu 37 15 27114458 27114458 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 27114458 27114458 C A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known silent c.63 p.S21 1.000 prints_GABBAa5_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 101 0 0 68 29 29.8969 GABRA5 0 genome.wustl.edu 37 15 27128679 27128679 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 27128679 27128679 G A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.472 p.D158N 0.993 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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 40 0 0 14 16 53.3333 GABRG3 0 genome.wustl.edu 37 15 27222237 27222237 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 27222237 27222237 A G SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.142 p.T48A 1.000 superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 104 0 0 72 41 36.2832 OCA2 0 genome.wustl.edu 37 15 28200318 28200318 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28200318 28200318 C A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known nonsense c.1828 p.E610* 1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 174 0 0 111 47 29.7468 HERC2 0 genome.wustl.edu 37 15 28377829 28377829 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28377829 28377829 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.12378 p.S4126 0.289 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 145 0 0 61 40 39.604 HERC2 0 genome.wustl.edu 37 15 28386977 28386977 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28386977 28386977 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.11716 p.R3906C 0.915 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 218 0 0 148 80 35.0877 HERC2 0 genome.wustl.edu 37 15 28408287 28408287 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28408287 28408287 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10699 p.D3567N 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 138 0 0 71 29 29 HERC2 0 genome.wustl.edu 37 15 28446651 28446651 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28446651 28446651 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7667 p.D2556G 1.000 pfam_CPH_domain pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 100 1 0.990099 61 24 28.2353 HERC2 0 genome.wustl.edu 37 15 28459021 28459021 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28459021 28459021 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.6653 p.R2218H 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 99 0 0 35 14 28.5714 HERC2 0 genome.wustl.edu 37 15 28501325 28501325 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28501325 28501325 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.2656 p.A886T 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 58 0 0 26 13 33.3333 HERC2 0 genome.wustl.edu 37 15 28538116 28538116 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28538116 28538116 C A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.240 p.E80D 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 80 0 0 45 21 31.8182 GOLGA8F 0 genome.wustl.edu 37 15 28629528 28629528 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28629528 28629528 G T SNP GOLGA8F ENST00000526619 human ensembl 74_37 +1 known nonsense c.103 p.E35* 0.047 NULL NULL - no_errors GOLGA8F HGNC ENSG00000153684 77 0 0 36 14 28 GOLGA8M 0 genome.wustl.edu 37 15 28950341 28950341 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28950341 28950341 C T SNP GOLGA8M ENST00000340249 human ensembl 74_37 -1 known silent c.921 p.E307 1.000 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 30 0 0 28 9 24.3243 WHAMMP2 0 genome.wustl.edu 37 15 28986334 28986334 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28986334 28986334 G T SNP WHAMMP2 ENST00000508764 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 21 0 0 11 5 31.25 WHAMMP2 0 genome.wustl.edu 37 15 28999647 28999647 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 28999647 28999647 G A SNP WHAMMP2 ENST00000508764 human ensembl 74_37 +1 putative rna NULL NULL 0.905 - - - no_errors WHAMMP2 HGNC ENSG00000248334 123 0 0 77 30 28.0374 GOLGA6L7P 0 genome.wustl.edu 37 15 29092258 29092258 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 29092258 29092258 G A SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.060 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 19 0 0 7 9 56.25 APBA2 0 genome.wustl.edu 37 15 29406145 29406145 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 29406145 29406145 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.2104 p.E702K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 126 0 0 61 28 31.4607 ENSG00000252868 0 genome.wustl.edu 37 15 29526117 29526117 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 29526117 29526117 G A SNP ENSG00000252868 ENST00000517059 human ensembl 74_37 +1 novel rna NULL NULL 0.992 - - - no_errors snoZ278 RFAM ENSG00000252868 41 0 0 22 17 43.5897 TJP1 0 genome.wustl.edu 37 15 30008950 30008950 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 30008950 30008950 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.4067 p.R1356Q 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 83 0 0 66 20 23.2558 TJP1 0 genome.wustl.edu 37 15 30034875 30034875 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 30034875 30034875 C A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.1121 p.R374I 0.980 prints_ZonOcculS1 pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 144 0 0 81 42 34.1463 GOLGA8Q 0 genome.wustl.edu 37 15 30846001 30846001 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 30846001 30846001 G T SNP GOLGA8Q ENST00000562783 human ensembl 74_37 +1 known nonsense c.55 p.E19* 0.013 NULL NULL - no_errors GOLGA8Q HGNC ENSG00000178115 10 0 0 2 4 66.6667 TRPM1 0 genome.wustl.edu 37 15 31294611 31294611 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 31294611 31294611 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.4343 p.G1448D 0.998 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 174 0 0 89 47 34.5588 TRPM1 0 genome.wustl.edu 37 15 31319267 31319267 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 31319267 31319267 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.3398 p.R1133Q 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 92 0 0 59 29 32.9545 TRPM1 0 genome.wustl.edu 37 15 31339355 31339355 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 31339355 31339355 T G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1774 p.N592H 0.834 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 134 0 0 100 11 9.90991 TRPM1 0 genome.wustl.edu 37 15 31352771 31352771 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 31352771 31352771 G T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.1290 p.I430 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 49 0 0 25 13 34.2105 CHRNA7 0 genome.wustl.edu 37 15 32449835 32449835 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 32449835 32449835 G A SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known missense c.544 p.D182N 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 83 0 0 25 33 56.8966 ARHGAP11A 0 genome.wustl.edu 37 15 32916429 32916429 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 32916429 32916429 C T SNP ARHGAP11A ENST00000361627 human ensembl 74_37 +1 known missense c.353 p.A118V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 63 0 0 48 25 34.2466 FMN1 0 genome.wustl.edu 37 15 33194156 33194156 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 33194156 33194156 T G SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.2794 p.T932P 0.972 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 64 0 0 50 18 26.4706 RYR3 0 genome.wustl.edu 37 15 33831637 33831637 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 33831637 33831637 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.520 p.V174I 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 20 0 0 12 5 29.4118 RYR3 0 genome.wustl.edu 37 15 33905384 33905384 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 33905384 33905384 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2165 p.G722D 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 37 0 0 13 6 31.5789 RYR3 0 genome.wustl.edu 37 15 33920748 33920748 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 33920748 33920748 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2651 p.K884T 1.000 pfam_Ryanodine_rcpt,prints_Ryan_recept pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 71 0 0 42 21 33.3333 RYR3 0 genome.wustl.edu 37 15 34113011 34113011 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 34113011 34113011 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10813 p.E3605K 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 14 0 0 11 5 31.25 RYR3 0 genome.wustl.edu 37 15 34130137 34130137 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 34130137 34130137 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.11956 p.P3986S 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 179 0 0 106 41 27.8912 RYR3 0 genome.wustl.edu 37 15 34146651 34146651 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 34146651 34146651 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known splice_site c.13860+1 e97+1 1.000 - - - no_errors RYR3 HGNC ENSG00000198838 12 0 0 5 3 37.5 KATNBL1 0 genome.wustl.edu 37 15 34445233 34445233 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 34445233 34445233 G A SNP KATNBL1 ENST00000256544 human ensembl 74_37 -1 known missense c.196 p.R66C 0.076 NULL NULL - no_errors KATNBL1 HGNC ENSG00000134152 114 0 0 86 45 34.3511 SLC12A6 0 genome.wustl.edu 37 15 34628879 34628879 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 34628879 34628879 C T SNP SLC12A6 ENST00000397707 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 82 0 0 44 19 30.1587 GOLGA8A 0 genome.wustl.edu 37 15 34678852 34678852 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 34678852 34678852 G A SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known nonsense c.349 p.R117* 0.998 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 123 0 0 88 17 16.1905 AQR 0 genome.wustl.edu 37 15 35236561 35236561 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 35236561 35236561 T G SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.399 p.E133D 0.996 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 231 0 0 196 87 30.742 CSNK1A1P1 0 genome.wustl.edu 37 15 37110228 37110228 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 37110228 37110228 T G SNP CSNK1A1P1 ENST00000430593 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CSNK1A1P1 HGNC ENSG00000223518 64 0 0 20 22 52.381 SPRED1 0 genome.wustl.edu 37 15 38617009 38617009 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 38617009 38617009 A C SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.422 p.Q141P 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 21 0 0 19 12 38.7097 C15orf54 0 genome.wustl.edu 37 15 39544598 39544598 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 39544598 39544598 T C SNP C15orf54 ENST00000318578 human ensembl 74_37 +1 known missense c.262 p.S88P 0.913 NULL NULL - no_errors C15orf54 HGNC ENSG00000175746 258 0 0 96 54 36 THBS1 0 genome.wustl.edu 37 15 39882122 39882122 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 39882122 39882122 C T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known silent c.2043 p.G681 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 74 0 0 31 14 31.1111 FSIP1 0 genome.wustl.edu 37 15 40057945 40057945 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40057945 40057945 C A SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known nonsense c.313 p.E105* 0.054 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 14 0 0 29 5 14.7059 EIF2AK4 0 genome.wustl.edu 37 15 40280268 40280268 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40280268 40280268 C T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known nonsense c.2488 p.R830* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 119 0 0 100 31 23.6641 BUB1B 0 genome.wustl.edu 37 15 40462836 40462836 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40462836 40462836 A C SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.380 p.K127T 0.696 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 79 0 0 60 22 26.8293 BUB1B 0 genome.wustl.edu 37 15 40504751 40504751 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40504751 40504751 G T SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known nonsense c.2479 p.E827* 1.000 superfamily_Kinase-like_dom pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 73 0 0 43 26 37.6812 PAK6 0 genome.wustl.edu 37 15 40564537 40564537 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40564537 40564537 C T SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.971 p.S324L 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 177 0 0 70 35 33.3333 KNSTRN 0 genome.wustl.edu 37 15 40684192 40684192 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40684192 40684192 G A SNP KNSTRN ENST00000249776 human ensembl 74_37 +1 known missense c.790 p.E264K 0.995 NULL NULL - no_errors KNSTRN HGNC ENSG00000128944 169 0 0 107 49 31.4103 CASC5 0 genome.wustl.edu 37 15 40913959 40913959 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40913959 40913959 T A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.1575 p.F525L 0.201 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 72 0 0 53 25 32.0513 CASC5 0 genome.wustl.edu 37 15 40914552 40914552 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40914552 40914552 C A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2168 p.S723Y 0.293 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 84 0 0 40 16 28.5714 CASC5 0 genome.wustl.edu 37 15 40916289 40916289 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 40916289 40916289 A G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.3905 p.Q1302R 0.001 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 140 0 0 99 38 27.7372 RMDN3 0 genome.wustl.edu 37 15 41043667 41043667 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 41043667 41043667 C T SNP RMDN3 ENST00000260385 human ensembl 74_37 -1 known missense c.481 p.A161T 0.981 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 214 0 0 117 61 34.2697 INO80 0 genome.wustl.edu 37 15 41387799 41387799 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 41387799 41387799 C T SNP INO80 ENST00000361937 human ensembl 74_37 -1 known silent c.381 p.K127 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 71 0 0 41 26 38.806 LTK 0 genome.wustl.edu 37 15 41797252 41797252 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 41797252 41797252 C T SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.1936 p.A646T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,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 LTK HGNC ENSG00000062524 50 0 0 17 9 34.6154 MGA 0 genome.wustl.edu 37 15 42021440 42021440 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 42021440 42021440 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.3736 p.R1246* 0.999 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 38 0 0 29 13 30.9524 PLA2G4F 0 genome.wustl.edu 37 15 42442027 42442027 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 42442027 42442027 G A SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.943 p.R315C 1.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 112 0 0 46 18 28.125 PLA2G4F 0 genome.wustl.edu 37 15 42442820 42442820 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 42442820 42442820 G A SNP PLA2G4F ENST00000569985 human ensembl 74_37 -1 known missense c.692 p.A231V 0.391 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors PLA2G4F HGNC ENSG00000168907 27 0 0 19 9 32.1429 TTBK2 0 genome.wustl.edu 37 15 43044235 43044235 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 43044235 43044235 G A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.3209 p.S1070L 0.978 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 221 0 0 112 56 33.3333 TTBK2 0 genome.wustl.edu 37 15 43044613 43044613 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 43044613 43044613 C T SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.2831 p.R944Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 162 0 0 100 41 29.078 EPB42 0 genome.wustl.edu 37 15 43508531 43508531 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 43508531 43508531 T C SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known missense c.221 p.Y74C 0.639 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 109 0 0 53 30 36.1446 TGM7 0 genome.wustl.edu 37 15 43584953 43584953 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 43584953 43584953 A C SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.393 p.T131 0.002 superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 250 0 0 125 73 36.8687 LCMT2 0 genome.wustl.edu 37 15 43620802 43620802 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 43620802 43620802 A C SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known missense c.1886 p.I629S 1.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 133 0 0 76 31 28.972 CKMT1A 0 genome.wustl.edu 37 15 43988539 43988539 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 43988539 43988539 G T SNP CKMT1A ENST00000413453 human ensembl 74_37 +1 known missense c.854 p.R285I 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT1A HGNC ENSG00000223572 174 0 0 94 23 19.6581 CATSPER2P1 0 genome.wustl.edu 37 15 44036490 44036490 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 44036490 44036490 A C SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 47 0 0 25 14 35.8974 CTDSPL2 0 genome.wustl.edu 37 15 44811443 44811443 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 44811443 44811443 C A SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known missense c.1189 p.L397I 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 85 0 0 41 27 39.7059 SPG11 0 genome.wustl.edu 37 15 44944095 44944095 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 44944095 44944095 C T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known silent c.1050 p.K350 0.950 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 68 0 0 30 21 41.1765 TRIM69 0 genome.wustl.edu 37 15 45059668 45059668 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45059668 45059668 C A SNP TRIM69 ENST00000329464 human ensembl 74_37 +1 known silent c.1201 p.R401 0.997 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM69 HGNC ENSG00000185880 127 1 0.78125 71 36 33.6449 SORD 0 genome.wustl.edu 37 15 45365719 45365719 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45365719 45365719 G T SNP SORD ENST00000267814 human ensembl 74_37 +1 known missense c.1065 p.Q355H 1.000 NULL pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors SORD HGNC ENSG00000140263 81 0 0 34 17 33.3333 DUOX1 0 genome.wustl.edu 37 15 45428767 45428767 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45428767 45428767 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.966 p.F322 0.971 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 159 0 0 79 39 33.0508 DUOX1 0 genome.wustl.edu 37 15 45443388 45443388 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45443388 45443388 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.2956 p.L986 0.925 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 162 0 0 75 46 38.0165 GATM 0 genome.wustl.edu 37 15 45656125 45656125 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45656125 45656125 G A SNP GATM ENST00000396659 human ensembl 74_37 -1 known missense c.1132 p.P378S 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 70 0 0 42 28 40 SPATA5L1 0 genome.wustl.edu 37 15 45707949 45707949 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45707949 45707949 G T SNP SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known missense c.1809 p.E603D 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 59 0 0 31 13 29.5455 ENSG00000259342 0 genome.wustl.edu 37 15 45722962 45722962 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45722962 45722962 T G SNP ENSG00000259342 ENST00000559553 human ensembl 74_37 -1 known rna NULL NULL 0.344 - - - no_errors RP11-519G16.5 Clone_based_vega_gene ENSG00000259342 30 0 0 18 5 21.7391 SQRDL 0 genome.wustl.edu 37 15 45983200 45983200 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45983200 45983200 G A SNP SQRDL ENST00000260324 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors SQRDL HGNC ENSG00000137767 299 0 0 154 52 25.2427 SEMA6D 0 genome.wustl.edu 37 15 48053386 48053386 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 48053386 48053386 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.314 p.R105Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 54 0 0 44 19 30.1587 SLC12A1 0 genome.wustl.edu 37 15 48580336 48580336 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 48580336 48580336 G A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.2726 p.G909D 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 27 0 0 9 11 55 FBN1 0 genome.wustl.edu 37 15 48703309 48703309 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 48703309 48703309 T G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.8494 p.S2832R 1.000 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 102 0 0 69 24 25.8065 FBN1 0 genome.wustl.edu 37 15 48703477 48703477 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 48703477 48703477 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known nonsense c.8326 p.R2776* 1.000 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 204 0 0 95 51 34.9315 FBN1 0 genome.wustl.edu 37 15 48776091 48776091 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 48776091 48776091 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.3762 p.C1254 0.998 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 92 0 0 55 22 28.5714 COPS2 0 genome.wustl.edu 37 15 49436464 49436464 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 49436464 49436464 A C SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.206 p.F69C 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 59 0 0 52 22 29.7297 FAM227B 0 genome.wustl.edu 37 15 49663591 49663591 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 49663591 49663591 C T SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known missense c.1018 p.D340N 0.020 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 130 0 0 93 61 39.6104 FGF7 0 genome.wustl.edu 37 15 49716732 49716732 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 49716732 49716732 G A SNP FGF7 ENST00000267843 human ensembl 74_37 +1 known missense c.238 p.D80N 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 83 0 0 47 26 35.6164 FAM227B 0 genome.wustl.edu 37 15 49869835 49869835 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 49869835 49869835 C A SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known missense c.432 p.K144N 1.000 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 24 0 0 16 14 46.6667 SLC27A2 0 genome.wustl.edu 37 15 50489750 50489750 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 50489750 50489750 T C SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.532 p.S178P 0.065 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 87 0 0 66 24 26.6667 USP50 0 genome.wustl.edu 37 15 50838687 50838687 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 50838687 50838687 G A SNP USP50 ENST00000532404 human ensembl 74_37 -1 known silent c.36 p.F12 0.962 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 113 0 0 71 41 36.6071 TRPM7 0 genome.wustl.edu 37 15 50853889 50853889 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 50853889 50853889 G A SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.5584 p.R1862C 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 66 0 0 34 17 33.3333 TRPM7 0 genome.wustl.edu 37 15 50878618 50878618 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 50878618 50878618 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.4457 p.R1486K 0.910 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 55 0 0 19 15 44.1176 TRPM7 0 genome.wustl.edu 37 15 50906354 50906354 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 50906354 50906354 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.1601 p.R534Q 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 70 0 0 62 28 31.1111 DMXL2 0 genome.wustl.edu 37 15 51763435 51763435 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 51763435 51763435 A C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7377 p.D2459E 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 127 0 0 69 30 30.303 DMXL2 0 genome.wustl.edu 37 15 51791197 51791197 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 51791197 51791197 T G SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.4224 p.E1408D 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 275 0 0 194 89 31.4488 DMXL2 0 genome.wustl.edu 37 15 51828437 51828437 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 51828437 51828437 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.2240 p.R747Q 1.000 smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 195 0 0 138 76 35.514 TMOD2 0 genome.wustl.edu 37 15 52069169 52069169 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 52069169 52069169 C T SNP TMOD2 ENST00000249700 human ensembl 74_37 +1 known silent c.447 p.F149 0.992 NULL pfam_Tropomodulin - no_errors TMOD2 HGNC ENSG00000128872 78 0 0 42 21 33.3333 TMOD3 0 genome.wustl.edu 37 15 52161468 52161468 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 52161468 52161468 A G SNP TMOD3 ENST00000308580 human ensembl 74_37 +1 known missense c.181 p.T61A 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 118 0 0 67 29 30.2083 MYO5C 0 genome.wustl.edu 37 15 52539151 52539151 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 52539151 52539151 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known nonsense c.1942 p.R648* 0.998 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 138 0 0 72 23 24.2105 WDR72 0 genome.wustl.edu 37 15 53991950 53991950 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 53991950 53991950 T C SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.1762 p.T588A 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 140 0 0 84 48 36.3636 UNC13C 0 genome.wustl.edu 37 15 54306969 54306969 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 54306969 54306969 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.1869 p.E623 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 188 0 0 93 38 29.0076 UNC13C 0 genome.wustl.edu 37 15 54307519 54307519 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 54307519 54307519 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2419 p.A807T 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 58 0 0 27 19 41.3043 UNC13C 0 genome.wustl.edu 37 15 54556537 54556537 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 54556537 54556537 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3620 p.A1207V 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 15 0 0 13 6 31.5789 UNC13C 0 genome.wustl.edu 37 15 54707232 54707232 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 54707232 54707232 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4900 p.L1634I 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 35 0 0 30 11 26.8293 UNC13C 0 genome.wustl.edu 37 15 54914612 54914612 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 54914612 54914612 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6194 p.V2065A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 85 0 0 43 20 31.746 CCPG1 0 genome.wustl.edu 37 15 55651945 55651945 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55651945 55651945 C T SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known missense c.2026 p.E676K 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 57 0 0 45 23 33.8235 DYX1C1 0 genome.wustl.edu 37 15 55759140 55759140 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55759140 55759140 G T SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.625 p.L209I 0.632 NULL pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 56 0 0 57 18 24 PYGO1 0 genome.wustl.edu 37 15 55839078 55839078 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55839078 55839078 G A SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known missense c.403 p.P135S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 123 0 0 68 43 38.7387 PRTG 0 genome.wustl.edu 37 15 55930813 55930813 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55930813 55930813 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known nonsense c.2386 p.R796* 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 54 0 0 30 13 30.2326 PRTG 0 genome.wustl.edu 37 15 55965788 55965788 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55965788 55965788 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.1633 p.R545W 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 192 0 0 108 39 26.5306 ENSG00000259180 0 genome.wustl.edu 37 15 55972617 55972617 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55972617 55972617 A C SNP ENSG00000259180 ENST00000561155 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259180 32 0 0 38 14 26.9231 PRTG 0 genome.wustl.edu 37 15 55974623 55974623 + Nonsense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 55974623 55974623 A T SNP PRTG ENST00000389286 human ensembl 74_37 -1 known nonsense c.615 p.C205* 0.923 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 82 0 0 56 33 37.0787 NEDD4 0 genome.wustl.edu 37 15 56132713 56132713 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 56132713 56132713 A C SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.3220 p.F1074V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 60 0 0 43 24 35.8209 NEDD4 0 genome.wustl.edu 37 15 56208417 56208417 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 56208417 56208417 T G SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.613 p.N205H 0.990 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 108 0 0 55 34 38.2022 RFX7 0 genome.wustl.edu 37 15 56388113 56388113 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 56388113 56388113 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.1813 p.R605C 0.983 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 45 0 0 23 10 30.303 ZNF280D 0 genome.wustl.edu 37 15 56981268 56981268 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 56981268 56981268 G T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.751 p.L251I 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 70 0 0 66 18 21.4286 ZNF280D 0 genome.wustl.edu 37 15 56981585 56981585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 56981585 56981585 C T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.583 p.E195K 0.133 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 55 0 0 34 27 44.2623 CGNL1 0 genome.wustl.edu 37 15 57730212 57730212 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 57730212 57730212 C T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known silent c.15 p.F5 0.945 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 446 1 0.223714 257 158 38.0723 ALDH1A2 0 genome.wustl.edu 37 15 58253409 58253409 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 58253409 58253409 G A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known silent c.1335 p.L445 0.086 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 74 0 0 51 20 28.169 ALDH1A2 0 genome.wustl.edu 37 15 58284967 58284967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 58284967 58284967 G A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.734 p.T245M 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 143 0 0 87 36 29.2683 RNF111 0 genome.wustl.edu 37 15 59347967 59347967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 59347967 59347967 G A SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.1094 p.R365H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 48 0 0 28 14 33.3333 RNF111 0 genome.wustl.edu 37 15 59387260 59387260 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 59387260 59387260 T C SNP RNF111 ENST00000560080 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNF111 HGNC ENSG00000157450 44 0 0 15 9 37.5 LDHAL6B 0 genome.wustl.edu 37 15 59499489 59499489 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 59499489 59499489 G A SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.350 p.G117D 0.994 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 191 0 0 107 36 25.1748 LDHAL6B 0 genome.wustl.edu 37 15 59499969 59499969 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 59499969 59499969 A G SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.830 p.K277R 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 67 0 0 44 31 41.3333 MYO1E 0 genome.wustl.edu 37 15 59501008 59501008 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 59501008 59501008 C T SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.1402 p.A468T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 131 0 0 62 32 34.0426 FAM81A 0 genome.wustl.edu 37 15 59752247 59752247 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 59752247 59752247 G A SNP FAM81A ENST00000288228 human ensembl 74_37 +1 known missense c.136 p.A46T 0.957 NULL superfamily_Ferritin-like_SF - no_errors FAM81A HGNC ENSG00000157470 65 0 0 47 23 32.8571 RORA 0 genome.wustl.edu 37 15 60803545 60803545 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 60803545 60803545 G T SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.799 p.L267I 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 114 0 0 53 35 39.7727 VPS13C 0 genome.wustl.edu 37 15 62146720 62146720 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62146720 62146720 C T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.11198 p.R3733K 0.990 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 267 0 0 141 71 33.4906 VPS13C 0 genome.wustl.edu 37 15 62155716 62155716 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62155716 62155716 T G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.10875 p.K3625N 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 76 0 0 54 25 31.6456 VPS13C 0 genome.wustl.edu 37 15 62202485 62202485 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62202485 62202485 T G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.8735 p.E2912A 1.000 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 82 0 0 49 21 30 VPS13C 0 genome.wustl.edu 37 15 62214690 62214690 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62214690 62214690 C T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.6881 p.R2294Q 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 167 0 0 142 68 32.381 VPS13C 0 genome.wustl.edu 37 15 62243142 62243142 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62243142 62243142 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known splice_site c.4536+2 e40+2 0.996 - - - no_errors VPS13C HGNC ENSG00000129003 32 0 0 23 16 41.0256 VPS13C 0 genome.wustl.edu 37 15 62325718 62325718 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62325718 62325718 C A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known nonsense c.307 p.E103* 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 30 0 0 19 11 36.6667 VPS13C 0 genome.wustl.edu 37 15 62327210 62327210 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 62327210 62327210 C T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.229 p.E77K 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 103 0 0 80 31 27.9279 TLN2 0 genome.wustl.edu 37 15 63029190 63029190 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 63029190 63029190 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known nonsense c.3472 p.R1158* 0.860 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 83 0 0 31 15 32.6087 TPM1 0 genome.wustl.edu 37 15 63353934 63353934 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 63353934 63353934 G T SNP TPM1 ENST00000267996 human ensembl 74_37 +1 known nonsense c.586 p.E196* 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 85 0 0 43 21 32.8125 APH1B 0 genome.wustl.edu 37 15 63571506 63571506 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 63571506 63571506 G A SNP APH1B ENST00000261879 human ensembl 74_37 +1 known missense c.260 p.R87Q 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 99 0 0 56 23 29.1139 HERC1 0 genome.wustl.edu 37 15 63967065 63967065 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 63967065 63967065 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.7322 p.R2441Q 0.955 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 172 0 0 94 51 35.1724 HERC1 0 genome.wustl.edu 37 15 63986349 63986349 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 63986349 63986349 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.5488 p.A1830T 1.000 superfamily_ARM-type_fold pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 18 0 0 14 7 33.3333 HERC1 0 genome.wustl.edu 37 15 64010809 64010809 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 64010809 64010809 T G SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.3942 p.E1314D 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 14 0 0 10 5 33.3333 TRIP4 0 genome.wustl.edu 37 15 64687596 64687596 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 64687596 64687596 G T SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known splice_site c.272-1 e3-1 0.991 - - - no_errors TRIP4 HGNC ENSG00000103671 44 0 0 24 17 41.4634 ZNF609 0 genome.wustl.edu 37 15 64966811 64966811 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 64966811 64966811 A C SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1758 p.K586N 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 126 0 0 61 34 35.7895 ANKDD1A 0 genome.wustl.edu 37 15 65223053 65223053 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65223053 65223053 C T SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.604 p.R202W 0.022 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 49 0 0 19 14 42.4242 ANKDD1A 0 genome.wustl.edu 37 15 65226337 65226337 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65226337 65226337 A C SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.770 p.K257T 0.902 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 104 0 0 71 28 28.2828 SPG21 0 genome.wustl.edu 37 15 65268842 65268842 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65268842 65268842 T G SNP SPG21 ENST00000204566 human ensembl 74_37 -1 known missense c.277 p.K93Q 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors SPG21 HGNC ENSG00000090487 73 0 0 38 26 40.625 CLPX 0 genome.wustl.edu 37 15 65450097 65450097 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65450097 65450097 T G SNP CLPX ENST00000300107 human ensembl 74_37 -1 known missense c.1044 p.E348D 0.969 pfam_ATPase_AAA-2,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 139 1 0.714286 84 41 32.8 CILP 0 genome.wustl.edu 37 15 65489827 65489827 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65489827 65489827 C A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.2797 p.D933Y 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 170 0 0 92 33 26.4 CILP 0 genome.wustl.edu 37 15 65490661 65490661 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65490661 65490661 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1963 p.R655W 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 166 1 0.598802 105 39 27.0833 DENND4A 0 genome.wustl.edu 37 15 65962360 65962360 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65962360 65962360 C T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.4628 p.R1543Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 26 0 0 31 8 20.5128 DENND4A 0 genome.wustl.edu 37 15 65962413 65962413 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65962413 65962413 G A SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known silent c.4575 p.F1525 0.998 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 27 0 0 19 9 32.1429 DENND4A 0 genome.wustl.edu 37 15 65968830 65968830 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65968830 65968830 C A SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.4319 p.R1440I 0.956 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 61 0 0 28 11 28.2051 DENND4A 0 genome.wustl.edu 37 15 65983414 65983414 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 65983414 65983414 T G SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.3515 p.E1172A 0.186 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 39 0 0 18 13 41.9355 DENND4A 0 genome.wustl.edu 37 15 66044740 66044740 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 66044740 66044740 C T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.538 p.D180N 1.000 smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 72 0 0 43 21 32.8125 MEGF11 0 genome.wustl.edu 37 15 66416290 66416290 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 66416290 66416290 G T SNP MEGF11 ENST00000288745 human ensembl 74_37 -1 known missense c.23 p.S8Y 1.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF11 HGNC ENSG00000157890 90 0 0 63 19 23.1707 ZWILCH 0 genome.wustl.edu 37 15 66811286 66811286 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 66811286 66811286 T G SNP ZWILCH ENST00000307897 human ensembl 74_37 +1 known silent c.390 p.V130 0.691 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 138 0 0 88 6 6.38298 LCTL 0 genome.wustl.edu 37 15 66850086 66850086 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 66850086 66850086 T C SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.896 p.Y299C 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 216 0 0 115 68 37.1585 IQCH 0 genome.wustl.edu 37 15 67629323 67629323 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 67629323 67629323 C T SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.398 p.S133L 0.982 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 82 0 0 46 16 25.8065 FEM1B 0 genome.wustl.edu 37 15 68583466 68583466 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 68583466 68583466 A C SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.1770 p.K590N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 79 0 0 39 13 25 NOX5 0 genome.wustl.edu 37 15 69339194 69339194 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 69339194 69339194 C A SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known missense c.1680 p.F560L 0.997 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 117 0 0 61 22 26.506 TLE3 0 genome.wustl.edu 37 15 70344723 70344723 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 70344723 70344723 G A SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known silent c.2124 p.F708 0.384 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 98 0 0 45 15 25 UACA 0 genome.wustl.edu 37 15 70960067 70960067 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 70960067 70960067 C T SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.2956 p.A986T 0.559 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 144 0 0 113 35 23.6486 UACA 0 genome.wustl.edu 37 15 70960325 70960325 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 70960325 70960325 T C SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.2698 p.I900V 0.000 superfamily_Prefoldin pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 34 0 0 29 22 43.1373 PKM 0 genome.wustl.edu 37 15 72492905 72492905 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 72492905 72492905 G A SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.1399 p.R467C 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,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 140 0 0 62 26 29.5455 PKM 0 genome.wustl.edu 37 15 72511433 72511433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 72511433 72511433 C T SNP PKM ENST00000449901 human ensembl 74_37 -1 known missense c.53 p.R18Q 0.972 NULL 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 144 0 0 90 38 29.6875 BBS4 0 genome.wustl.edu 37 15 72987519 72987519 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 72987519 72987519 G T SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known missense c.50 p.R17I 0.999 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 64 0 0 58 16 21.6216 NPTN 0 genome.wustl.edu 37 15 73866030 73866030 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 73866030 73866030 C T SNP NPTN ENST00000345330 human ensembl 74_37 -1 known nonsense c.813 p.W271* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 147 0 0 76 29 27.619 C15orf59 0 genome.wustl.edu 37 15 74032415 74032415 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 74032415 74032415 C T SNP C15orf59 ENST00000379822 human ensembl 74_37 -1 known missense c.725 p.R242H 0.995 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 107 0 0 43 23 34.8485 LOXL1 0 genome.wustl.edu 37 15 74241881 74241881 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 74241881 74241881 C T SNP LOXL1 ENST00000261921 human ensembl 74_37 +1 known missense c.1684 p.R562C 0.989 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOXL1 HGNC ENSG00000129038 144 0 0 53 25 32.0513 PML 0 genome.wustl.edu 37 15 74290724 74290724 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 74290724 74290724 G A SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.509 p.R170H 0.974 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 76 0 0 46 24 34.2857 CYP1A1 0 genome.wustl.edu 37 15 75014767 75014767 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75014767 75014767 G A SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known silent c.672 p.F224 0.934 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 127 1 0.78125 69 30 30.303 SCAMP2 0 genome.wustl.edu 37 15 75146371 75146371 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75146371 75146371 C T SNP SCAMP2 ENST00000268099 human ensembl 74_37 -1 known silent c.216 p.P72 0.013 NULL pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 94 0 0 52 5 8.77193 C15orf39 0 genome.wustl.edu 37 15 75500865 75500865 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75500865 75500865 G A SNP C15orf39 ENST00000360639 human ensembl 74_37 +1 known missense c.2476 p.D826N 0.151 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 15 0 0 9 3 25 GOLGA6C 0 genome.wustl.edu 37 15 75562507 75562507 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75562507 75562507 C T SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known silent c.2049 p.I683 1.000 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 151 0 0 73 37 33.6364 DNM1P34 0 genome.wustl.edu 37 15 75595026 75595026 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75595026 75595026 C T SNP DNM1P34 ENST00000567292 human ensembl 74_37 -1 known rna NULL NULL 0.653 - - - no_errors DNM1P34 HGNC ENSG00000260357 17 0 0 13 7 35 SIN3A 0 genome.wustl.edu 37 15 75664355 75664355 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75664355 75664355 G A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.3787 p.R1263C 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 134 1 0.740741 70 32 31.3725 SNUPN 0 genome.wustl.edu 37 15 75893539 75893539 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75893539 75893539 C A SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.825 p.K275N 1.000 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 122 0 0 70 40 36.3636 SNX33 0 genome.wustl.edu 37 15 75941999 75941999 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75941999 75941999 T C SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.556 p.F186L 0.998 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 178 0 0 79 33 29.4643 CSPG4 0 genome.wustl.edu 37 15 75969500 75969500 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 75969500 75969500 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.5360 p.A1787V 0.992 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 17 0 0 4 5 55.5556 PEAK1 0 genome.wustl.edu 37 15 77425509 77425509 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 77425509 77425509 G A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known silent c.3915 p.C1305 0.807 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 171 1 0.581395 86 58 40.2778 PEAK1 0 genome.wustl.edu 37 15 77471135 77471135 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 77471135 77471135 A C SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.3134 p.L1045R 0.927 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 76 0 0 37 21 36.2069 LOC645752 0 genome.wustl.edu 37 15 78214104 78214104 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 78214104 78214104 C A SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.278 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 125 0 0 78 38 32.7586 SH2D7 0 genome.wustl.edu 37 15 78390311 78390311 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 78390311 78390311 C T SNP SH2D7 ENST00000328828 human ensembl 74_37 +1 novel nonsense c.307 p.R103* 0.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC ENSG00000183476 72 0 0 38 26 40.625 DNAJA4 0 genome.wustl.edu 37 15 78562971 78562971 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 78562971 78562971 T G SNP DNAJA4 ENST00000394855 human ensembl 74_37 +1 known missense c.352 p.F118V 1.000 superfamily_DnaJ_domain pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA4 HGNC ENSG00000140403 167 0 0 98 63 39.1304 DNAJA4 0 genome.wustl.edu 37 15 78568044 78568044 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 78568044 78568044 G A SNP DNAJA4 ENST00000394855 human ensembl 74_37 +1 known missense c.938 p.R313Q 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA4 HGNC ENSG00000140403 46 0 0 21 16 43.2432 ENSG00000261303 0 genome.wustl.edu 37 15 79023377 79023377 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79023377 79023377 C T SNP ENSG00000261303 ENST00000568337 human ensembl 74_37 +1 known rna NULL NULL 0.552 - - - no_errors RP11-160C18.2 Clone_based_vega_gene ENSG00000261303 21 0 0 10 4 28.5714 ADAMTS7 0 genome.wustl.edu 37 15 79059228 79059228 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79059228 79059228 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.3025 p.G1009S 0.997 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 56 0 0 29 12 29.2683 MORF4L1 0 genome.wustl.edu 37 15 79172918 79172918 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79172918 79172918 A C SNP MORF4L1 ENST00000331268 human ensembl 74_37 +1 known missense c.152 p.K51T 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 49 0 0 31 12 27.907 RASGRF1 0 genome.wustl.edu 37 15 79290303 79290303 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79290303 79290303 G T SNP RASGRF1 ENST00000561112 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RASGRF1 HGNC ENSG00000058335 24 0 0 1 5 83.3333 RASGRF1 0 genome.wustl.edu 37 15 79307749 79307749 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79307749 79307749 A C SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1746 p.C582W 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 86 0 0 37 16 30.1887 RASGRF1 0 genome.wustl.edu 37 15 79323837 79323837 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79323837 79323837 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.1167 p.I389 0.990 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 36 0 0 15 6 28.5714 RASGRF1 0 genome.wustl.edu 37 15 79339308 79339308 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79339308 79339308 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.658 p.R220W 1.000 superfamily_DH-domain,pfscan_IQ_motif_EF-hand-BS pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 125 0 0 42 25 37.3134 KIAA1024 0 genome.wustl.edu 37 15 79748821 79748821 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79748821 79748821 A C SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.332 p.K111T 0.001 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 123 1 0.806452 57 38 40 KIAA1024 0 genome.wustl.edu 37 15 79749039 79749039 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 79749039 79749039 G T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known nonsense c.550 p.E184* 0.860 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 99 0 0 52 24 31.5789 KIAA1199 0 genome.wustl.edu 37 15 81188291 81188291 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 81188291 81188291 A C SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.1301 p.K434T 0.205 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 130 0 0 58 28 32.5581 KIAA1199 0 genome.wustl.edu 37 15 81241258 81241258 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 81241258 81241258 A C SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.4079 p.K1360T 0.946 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 213 0 0 96 43 30.9353 MESDC1 0 genome.wustl.edu 37 15 81294772 81294772 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 81294772 81294772 T C SNP MESDC1 ENST00000267984 human ensembl 74_37 +1 known missense c.160 p.S54P 1.000 NULL NULL - no_errors MESDC1 HGNC ENSG00000140406 29 0 0 16 9 36 TMC3 0 genome.wustl.edu 37 15 81625178 81625178 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 81625178 81625178 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.2885 p.S962F 0.485 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 54 0 0 22 11 33.3333 MEX3B 0 genome.wustl.edu 37 15 82336352 82336352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 82336352 82336352 C T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.859 p.D287N 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 104 0 0 47 24 33.8028 EFTUD1 0 genome.wustl.edu 37 15 82444040 82444040 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 82444040 82444040 C A SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known nonsense c.2755 p.E919* 0.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 179 0 0 97 49 33.5616 EFTUD1 0 genome.wustl.edu 37 15 82444245 82444245 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 82444245 82444245 A G SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known silent c.2550 p.G850 0.997 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 84 0 0 47 24 33.8028 AP3B2 0 genome.wustl.edu 37 15 83358164 83358164 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 83358164 83358164 G T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.155 p.S52Y 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 34 0 0 24 11 31.4286 HOMER2 0 genome.wustl.edu 37 15 83561463 83561463 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 83561463 83561463 G A SNP HOMER2 ENST00000304231 human ensembl 74_37 -1 known missense c.136 p.R46W 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER2 HGNC ENSG00000103942 251 1 0.396825 136 67 33.0049 BTBD1 0 genome.wustl.edu 37 15 83698921 83698921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 83698921 83698921 C T SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known missense c.1022 p.R341H 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 601 0 0 309 141 31.3333 BNC1 0 genome.wustl.edu 37 15 83926276 83926276 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 83926276 83926276 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.2903 p.S968L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 201 1 0.49505 111 55 33.1325 ADAMTSL3 0 genome.wustl.edu 37 15 84442274 84442274 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 84442274 84442274 G T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known splice_site c.190-1 e3-1 1.000 - - - no_errors ADAMTSL3 HGNC ENSG00000156218 44 0 0 32 20 38.4615 ADAMTSL3 0 genome.wustl.edu 37 15 84527579 84527579 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 84527579 84527579 A G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.789 p.G263 0.999 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 107 0 0 73 37 33.6364 SEC11A 0 genome.wustl.edu 37 15 85230953 85230953 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 85230953 85230953 G A SNP SEC11A ENST00000268220 human ensembl 74_37 -1 known nonsense c.214 p.R72* 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Peptidase_S26B pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11A HGNC ENSG00000140612 83 0 0 51 33 39.2857 SLC28A1 0 genome.wustl.edu 37 15 85478326 85478326 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 85478326 85478326 C T SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known silent c.1284 p.I428 0.957 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 153 0 0 61 38 38.3838 AKAP13 0 genome.wustl.edu 37 15 86124509 86124509 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 86124509 86124509 G T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.3210 p.K1070N 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 119 0 0 49 17 25.7576 AGBL1 0 genome.wustl.edu 37 15 86697732 86697732 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 86697732 86697732 C A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.196 p.L66I 0.977 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 48 0 0 33 4 10.8108 AGBL1 0 genome.wustl.edu 37 15 86807892 86807892 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 86807892 86807892 A C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.1352 p.K451T 0.820 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 183 0 0 114 53 31.7365 NTRK3 0 genome.wustl.edu 37 15 88420315 88420315 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 88420315 88420315 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.2371 p.R791W 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 75 0 0 30 20 40 NTRK3 0 genome.wustl.edu 37 15 88679173 88679173 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 88679173 88679173 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known silent c.864 p.N288 0.818 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 131 0 0 44 32 42.1053 FANCI 0 genome.wustl.edu 37 15 89807192 89807192 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 89807192 89807192 T C SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.604 p.F202L 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 135 0 0 81 42 34.1463 FANCI 0 genome.wustl.edu 37 15 89849327 89849327 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 89849327 89849327 G A SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.3439 p.E1147K 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 136 0 0 81 41 33.6066 POLG 0 genome.wustl.edu 37 15 89860719 89860719 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 89860719 89860719 G A SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.3531 p.V1177 0.966 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 119 0 0 60 29 32.5843 PEX11A 0 genome.wustl.edu 37 15 90226989 90226989 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 90226989 90226989 C T SNP PEX11A ENST00000300056 human ensembl 74_37 -1 known silent c.363 p.T121 0.002 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC ENSG00000166821 182 0 0 109 53 32.716 PEX11A 0 genome.wustl.edu 37 15 90227003 90227003 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 90227003 90227003 C A SNP PEX11A ENST00000300056 human ensembl 74_37 -1 known nonsense c.349 p.E117* 1.000 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC ENSG00000166821 167 0 0 100 50 33.3333 WDR93 0 genome.wustl.edu 37 15 90255298 90255298 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 90255298 90255298 C A SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known silent c.603 p.I201 0.311 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 64 0 0 35 16 31.3725 ANPEP 0 genome.wustl.edu 37 15 90340835 90340835 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 90340835 90340835 C A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.2128 p.D710Y 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 212 0 0 126 49 28 SEMA4B 0 genome.wustl.edu 37 15 90770845 90770845 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 90770845 90770845 C T SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.1745 p.S582L 0.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 49 0 0 21 9 30 TTLL13 0 genome.wustl.edu 37 15 90799398 90799398 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 90799398 90799398 C T SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.574 p.R192C 0.679 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 162 0 0 81 36 30.7692 IQGAP1 0 genome.wustl.edu 37 15 91034623 91034623 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 91034623 91034623 A C SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4307 p.D1436A 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 102 0 0 58 29 33.3333 SLCO3A1 0 genome.wustl.edu 37 15 92669380 92669380 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 92669380 92669380 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1264 p.R422W 0.991 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 124 0 0 62 23 27.0588 SPATA8 0 genome.wustl.edu 37 15 97327401 97327401 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 97327401 97327401 C A SNP SPATA8 ENST00000328504 human ensembl 74_37 +1 known missense c.108 p.F36L 0.565 NULL NULL - no_errors SPATA8 HGNC ENSG00000185594 111 0 0 59 38 39.1753 FAM169B 0 genome.wustl.edu 37 15 99023939 99023939 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 99023939 99023939 C T SNP FAM169B ENST00000332908 human ensembl 74_37 -1 known missense c.74 p.R25K 0.984 NULL NULL - no_errors FAM169B HGNC ENSG00000185087 93 0 0 75 23 23.4694 IGF1R 0 genome.wustl.edu 37 15 99456496 99456496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 99456496 99456496 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.1813 p.R605C 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 183 0 0 82 33 28.6957 SYNM 0 genome.wustl.edu 37 15 99671321 99671321 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 99671321 99671321 A C SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.2753 p.E918A 0.023 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 21 0 0 6 5 45.4545 SYNM 0 genome.wustl.edu 37 15 99671359 99671359 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 99671359 99671359 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.2791 p.E931K 0.617 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 22 0 0 7 7 50 TTC23 0 genome.wustl.edu 37 15 99696335 99696335 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 99696335 99696335 T C SNP TTC23 ENST00000394129 human ensembl 74_37 -1 putative silent c.1161 p.V387 0.000 NULL smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 77 0 0 43 22 33.8462 CIITA 0 genome.wustl.edu 37 16 10998602 10998602 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 10998602 10998602 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.939 p.E313 0.941 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 184 0 0 101 63 38.4146 CIITA 0 genome.wustl.edu 37 16 11000864 11000864 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 11000864 11000864 A C SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1515 p.E505D 0.754 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 168 1 0.591716 74 41 35.6522 CLEC16A 0 genome.wustl.edu 37 16 11071150 11071150 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 11071150 11071150 A G SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.797 p.D266G 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 100 0 0 58 20 25.641 SSTR5 0 genome.wustl.edu 37 16 1129228 1129228 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 1129228 1129228 C T SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.360 p.G120 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 83 0 0 34 15 30.6122 C1QTNF8 0 genome.wustl.edu 37 16 1143888 1143888 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 1143888 1143888 G A SNP C1QTNF8 ENST00000328449 human ensembl 74_37 -1 known silent c.372 p.R124 0.012 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF8 HGNC ENSG00000184471 40 0 0 14 8 36.3636 RMI2 0 genome.wustl.edu 37 16 11444642 11444642 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 11444642 11444642 C T SNP RMI2 ENST00000312499 human ensembl 74_37 +1 known missense c.439 p.P147S 0.969 NULL NULL - no_errors RMI2 HGNC ENSG00000175643 99 0 0 39 32 45.0704 ZC3H7A 0 genome.wustl.edu 37 16 11862354 11862354 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 11862354 11862354 T C SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.1177 p.N393D 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 78 0 0 42 23 35.3846 RSL1D1 0 genome.wustl.edu 37 16 11931697 11931697 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 11931697 11931697 A G SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known missense c.1420 p.S474P 0.046 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 300 0 0 168 84 33.3333 SNX29 0 genome.wustl.edu 37 16 12293490 12293490 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 12293490 12293490 A C SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.473 p.K158T 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 30 0 0 15 6 28.5714 CACNA1H 0 genome.wustl.edu 37 16 1270018 1270018 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 1270018 1270018 A G SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6086 p.D2029G 0.024 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 9 0 0 9 3 25 CPPED1 0 genome.wustl.edu 37 16 12758897 12758897 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 12758897 12758897 G T SNP CPPED1 ENST00000381774 human ensembl 74_37 -1 known nonsense c.791 p.S264* 1.000 NULL pfam_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 90 0 0 53 33 38.3721 CPPED1 0 genome.wustl.edu 37 16 12798748 12798748 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 12798748 12798748 A G SNP CPPED1 ENST00000381774 human ensembl 74_37 -1 known missense c.448 p.Y150H 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 94 0 0 52 34 39.5349 ERCC4 0 genome.wustl.edu 37 16 14029335 14029335 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 14029335 14029335 C T SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known nonsense c.1546 p.R516* 0.007 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 97 0 0 52 26 33.3333 GNPTG 0 genome.wustl.edu 37 16 1412835 1412835 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 1412835 1412835 G T SNP GNPTG ENST00000204679 human ensembl 74_37 +1 known nonsense c.751 p.E251* 0.046 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 201 0 0 99 58 36.9427 MKL2 0 genome.wustl.edu 37 16 14307444 14307444 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 14307444 14307444 C T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.286 p.R96C 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 74 0 0 64 33 34.0206 PARN 0 genome.wustl.edu 37 16 14711452 14711452 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 14711452 14711452 C T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.383 p.R128Q 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 40 0 0 26 13 33.3333 NOMO1 0 genome.wustl.edu 37 16 14983060 14983060 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 14983060 14983060 T G SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.3432 p.I1144M 0.993 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 350 0 0 154 99 39.1304 ENSG00000263065 0 genome.wustl.edu 37 16 15835523 15835523 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 15835523 15835523 T C SNP ENSG00000263065 ENST00000577048 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors AF001548.6 Clone_based_vega_gene ENSG00000263065 243 0 0 116 48 29.2683 MYH11 0 genome.wustl.edu 37 16 15880505 15880505 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 15880505 15880505 C A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.615 p.K205N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 46 0 0 22 14 38.8889 SPSB3 0 genome.wustl.edu 37 16 1828538 1828538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 1828538 1828538 C T SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.202 p.E68K 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 109 0 0 44 18 29.0323 ABCC6P1 0 genome.wustl.edu 37 16 18597204 18597204 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 18597204 18597204 G T SNP ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors ABCC6P1 HGNC ENSG00000256340 54 0 0 16 26 61.9048 ARL6IP1 0 genome.wustl.edu 37 16 18810043 18810043 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 18810043 18810043 A G SNP ARL6IP1 ENST00000562819 human ensembl 74_37 -1 novel splice_site c.148+2 e2+2 0.996 - - - no_errors ARL6IP1 HGNC ENSG00000170540 206 0 0 113 43 27.5641 SMG1 0 genome.wustl.edu 37 16 18841653 18841653 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 18841653 18841653 C A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.8831 p.R2944I 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 40 0 0 36 22 37.931 SMG1 0 genome.wustl.edu 37 16 18856860 18856860 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 18856860 18856860 T C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.6110 p.E2037G 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 123 0 0 66 27 29.0323 SMG1 0 genome.wustl.edu 37 16 18880520 18880520 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 18880520 18880520 C T SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known nonsense c.2739 p.W913* 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 93 0 0 62 27 30.3371 KNOP1 0 genome.wustl.edu 37 16 19725601 19725601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 19725601 19725601 G A SNP KNOP1 ENST00000219837 human ensembl 74_37 -1 known missense c.757 p.P253S 0.000 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 135 0 0 69 39 36.1111 KNOP1 0 genome.wustl.edu 37 16 19726316 19726316 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 19726316 19726316 C T SNP KNOP1 ENST00000219837 human ensembl 74_37 -1 known silent c.42 p.E14 0.960 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 149 0 0 86 30 25.8621 GPRC5B 0 genome.wustl.edu 37 16 19883861 19883861 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 19883861 19883861 T C SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.385 p.T129A 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 53 0 0 26 14 35 RPL3L 0 genome.wustl.edu 37 16 1994856 1994856 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 1994856 1994856 C A SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known missense c.1206 p.E402D 0.186 NULL pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 298 0 0 139 74 34.7418 PDILT 0 genome.wustl.edu 37 16 20380850 20380850 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20380850 20380850 C A SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.1080 p.K360N 0.109 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 205 1 0.485437 112 57 33.7278 PDILT 0 genome.wustl.edu 37 16 20384348 20384348 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20384348 20384348 C T SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.778 p.E260K 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 183 0 0 112 65 36.7232 ACSM2A 0 genome.wustl.edu 37 16 20471449 20471449 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20471449 20471449 C T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known nonsense c.13 p.R5* 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 85 0 0 64 4 5.88235 ACSM2A 0 genome.wustl.edu 37 16 20476902 20476902 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20476902 20476902 T C SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.241 p.W81R 0.996 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 74 0 0 46 22 32.3529 ACSM2B 0 genome.wustl.edu 37 16 20559486 20559486 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20559486 20559486 C A SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.996 p.Q332H 0.101 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 250 0 0 171 77 31.0484 ACSM1 0 genome.wustl.edu 37 16 20696520 20696520 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20696520 20696520 C T SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known missense c.398 p.R133Q 0.960 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 122 0 0 59 29 32.9545 ACSM1 0 genome.wustl.edu 37 16 20696700 20696700 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20696700 20696700 G A SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known missense c.218 p.A73V 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 203 0 0 110 51 31.677 ACSM3 0 genome.wustl.edu 37 16 20781488 20781488 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20781488 20781488 A C SNP ACSM3 ENST00000289416 human ensembl 74_37 +1 known missense c.132 p.E44D 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 117 0 0 77 27 25.9615 LOC81691 0 genome.wustl.edu 37 16 20851123 20851123 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20851123 20851123 T G SNP LOC81691 ENST00000261377 human ensembl 74_37 +1 known missense c.1430 p.I477S 0.068 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 336 0 0 198 88 30.7692 LOC81691 0 genome.wustl.edu 37 16 20851723 20851723 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20851723 20851723 C T SNP LOC81691 ENST00000261377 human ensembl 74_37 +1 known missense c.1559 p.A520V 0.756 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 139 0 0 84 47 35.8779 DNAH3 0 genome.wustl.edu 37 16 20974776 20974776 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20974776 20974776 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10430 p.R3477Q 0.998 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 85 0 0 43 24 35.8209 DNAH3 0 genome.wustl.edu 37 16 20975792 20975792 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20975792 20975792 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.9414 p.I3138 0.220 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 252 0 0 156 72 31.5789 DNAH3 0 genome.wustl.edu 37 16 20976341 20976341 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20976341 20976341 T G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8865 p.E2955D 0.080 superfamily_Prefoldin pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 262 0 0 143 76 34.7032 DNAH3 0 genome.wustl.edu 37 16 20976706 20976706 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20976706 20976706 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8500 p.L2834I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 132 1 0.75188 82 41 33.3333 DNAH3 0 genome.wustl.edu 37 16 20996988 20996988 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20996988 20996988 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.7076 p.R2359Q 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 225 0 0 109 52 32.2981 DNAH3 0 genome.wustl.edu 37 16 20999312 20999312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 20999312 20999312 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.6677 p.S2226L 0.356 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 104 0 0 65 34 34.3434 DNAH3 0 genome.wustl.edu 37 16 21136675 21136675 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 21136675 21136675 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.1225 p.A409T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 118 0 0 52 25 32.4675 ZP2 0 genome.wustl.edu 37 16 21210159 21210159 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 21210159 21210159 T C SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.1952 p.K651R 0.011 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 53 0 0 29 12 29.2683 ZP2 0 genome.wustl.edu 37 16 21213314 21213314 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 21213314 21213314 C T SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.1318 p.E440K 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 162 0 0 77 35 31.25 PKD1 0 genome.wustl.edu 37 16 2159869 2159869 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2159869 2159869 T C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.5299 p.T1767A 0.001 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 80 0 0 39 13 25 OTOA 0 genome.wustl.edu 37 16 21698929 21698929 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 21698929 21698929 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.595 p.R199W 0.076 NULL NULL - no_errors OTOA HGNC ENSG00000155719 81 0 0 56 19 25.3333 RRN3P1 0 genome.wustl.edu 37 16 21822055 21822055 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 21822055 21822055 C A SNP RRN3P1 ENST00000551681 human ensembl 74_37 -1 known rna NULL NULL 0.980 - - - no_errors RRN3P1 HGNC ENSG00000248124 9 0 0 7 7 50 UQCRC2 0 genome.wustl.edu 37 16 21994445 21994445 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 21994445 21994445 G A SNP UQCRC2 ENST00000561553 human ensembl 74_37 +1 putative nonsense c.1161 p.W387* 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC2 HGNC ENSG00000140740 123 0 0 76 15 16.4835 VWA3A 0 genome.wustl.edu 37 16 22142928 22142928 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 22142928 22142928 C T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.1750 p.R584W 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 46 0 0 16 9 36 VWA3A 0 genome.wustl.edu 37 16 22149750 22149750 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 22149750 22149750 G T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known nonsense c.2209 p.E737* 0.893 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 36 0 0 13 7 35 VWA3A 0 genome.wustl.edu 37 16 22151506 22151506 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 22151506 22151506 G A SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.2324 p.S775N 0.087 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 51 0 0 24 20 45.4545 CDR2 0 genome.wustl.edu 37 16 22361162 22361162 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 22361162 22361162 C T SNP CDR2 ENST00000561630 human ensembl 74_37 -1 known missense c.88 p.E30K 1.000 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 170 0 0 84 49 36.8421 CASKIN1 0 genome.wustl.edu 37 16 2239124 2239124 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2239124 2239124 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.521 p.A174V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 82 0 0 29 24 45.283 BRICD5 0 genome.wustl.edu 37 16 2260149 2260149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2260149 2260149 G A SNP BRICD5 ENST00000562360 human ensembl 74_37 -1 known missense c.314 p.A105V 0.102 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 33 0 0 15 9 37.5 HS3ST2 0 genome.wustl.edu 37 16 22926592 22926592 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 22926592 22926592 C T SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known silent c.813 p.F271 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 287 0 0 130 62 32.2917 USP31 0 genome.wustl.edu 37 16 23080168 23080168 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 23080168 23080168 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known silent c.3258 p.R1086 0.994 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 171 0 0 87 39 30.9524 USP31 0 genome.wustl.edu 37 16 23091492 23091492 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 23091492 23091492 C A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known nonsense c.1951 p.E651* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 108 0 0 41 22 34.9206 SCNN1B 0 genome.wustl.edu 37 16 23379279 23379279 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 23379279 23379279 C T SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known silent c.1014 p.F338 0.340 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 176 1 0.564972 62 56 47.4576 SCNN1B 0 genome.wustl.edu 37 16 23391835 23391835 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 23391835 23391835 G A SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.1771 p.D591N 1.000 tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 342 0 0 139 86 38.2222 ABCA3 0 genome.wustl.edu 37 16 2349486 2349486 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2349486 2349486 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.1659 p.N553 0.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 265 0 0 124 58 31.8681 UBFD1 0 genome.wustl.edu 37 16 23569435 23569435 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 23569435 23569435 G A SNP UBFD1 ENST00000219638 human ensembl 74_37 +1 known missense c.862 p.D288N 0.988 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 25 0 0 12 6 33.3333 ABCA3 0 genome.wustl.edu 37 16 2367685 2367685 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2367685 2367685 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.954 p.I318 0.002 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 115 0 0 68 27 28.4211 PLK1 0 genome.wustl.edu 37 16 23690463 23690463 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 23690463 23690463 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known silent c.210 p.I70 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_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 44 0 0 18 7 28 ABCA3 0 genome.wustl.edu 37 16 2369629 2369629 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2369629 2369629 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.826 p.L276F 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 141 0 0 67 24 26.3736 RBBP6 0 genome.wustl.edu 37 16 24552030 24552030 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 24552030 24552030 A C SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.83 p.D28A 1.000 pfam_DWNN_domain pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 139 0 0 69 33 32.3529 RBBP6 0 genome.wustl.edu 37 16 24578677 24578677 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 24578677 24578677 T C SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known silent c.1803 p.P601 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 398 1 0.250627 227 130 36.4146 TNRC6A 0 genome.wustl.edu 37 16 24802647 24802647 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 24802647 24802647 C A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.2684 p.S895Y 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 113 0 0 63 35 35.7143 TNRC6A 0 genome.wustl.edu 37 16 24803039 24803039 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 24803039 24803039 G A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3076 p.V1026I 0.649 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 69 0 0 38 25 39.6825 CCNF 0 genome.wustl.edu 37 16 2481197 2481197 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2481197 2481197 G A SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.83 p.R28Q 0.991 superfamily_F-box_dom pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 128 0 0 75 24 24.2424 CCNF 0 genome.wustl.edu 37 16 2503465 2503465 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2503465 2503465 G A SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.1642 p.D548N 0.978 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 85 0 0 46 25 35.2113 PDPK1 0 genome.wustl.edu 37 16 2627488 2627488 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2627488 2627488 T G SNP PDPK1 ENST00000342085 human ensembl 74_37 +1 known missense c.772 p.S258A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PDPK1 HGNC ENSG00000140992 36 0 0 13 7 35 IL21R 0 genome.wustl.edu 37 16 27460524 27460524 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 27460524 27460524 G A SNP IL21R ENST00000337929 human ensembl 74_37 +1 known missense c.1537 p.E513K 0.181 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 116 0 0 53 20 27.3973 KIAA0556 0 genome.wustl.edu 37 16 27772749 27772749 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 27772749 27772749 T C SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.3647 p.F1216S 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 101 0 0 51 20 28.169 GSG1L 0 genome.wustl.edu 37 16 27818854 27818854 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 27818854 27818854 G A SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known silent c.852 p.S284 0.008 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 37 0 0 25 18 41.8605 SRRM2 0 genome.wustl.edu 37 16 2812791 2812791 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2812791 2812791 T G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.2262 p.I754M 0.690 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 279 1 0.357143 142 66 31.7308 SRRM2 0 genome.wustl.edu 37 16 2817372 2817372 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 2817372 2817372 T C SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.6843 p.A2281 0.974 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 365 0 0 153 102 40 CD19 0 genome.wustl.edu 37 16 28946860 28946860 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 28946860 28946860 C A SNP CD19 ENST00000538922 human ensembl 74_37 +1 known missense c.931 p.L311I 0.957 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 89 0 0 37 14 27.451 CD19 0 genome.wustl.edu 37 16 28947495 28947495 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 28947495 28947495 G T SNP CD19 ENST00000538922 human ensembl 74_37 +1 known missense c.968 p.R323I 0.998 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 78 0 0 39 22 36.0656 SNX29P2 0 genome.wustl.edu 37 16 29367234 29367234 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 29367234 29367234 G A SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNX29P2 HGNC ENSG00000198106 51 0 0 33 13 28.2609 NPIPB11 0 genome.wustl.edu 37 16 29401638 29401638 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 29401638 29401638 C T SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.281 p.R94Q 0.001 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 45 0 0 23 8 25.8065 C16orf54 0 genome.wustl.edu 37 16 29755699 29755699 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 29755699 29755699 G A SNP C16orf54 ENST00000329410 human ensembl 74_37 -1 known missense c.574 p.P192S 0.150 NULL NULL - no_errors C16orf54 HGNC ENSG00000185905 25 0 0 8 5 38.4615 TAOK2 0 genome.wustl.edu 37 16 29994826 29994826 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 29994826 29994826 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known silent c.1263 p.G421 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 510 0 0 263 157 37.381 ITGAL 0 genome.wustl.edu 37 16 30522424 30522424 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 30522424 30522424 C A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.2753 p.P918H 0.844 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 210 0 0 91 34 27.2 CLDN6 0 genome.wustl.edu 37 16 3065372 3065372 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3065372 3065372 C A SNP CLDN6 ENST00000328796 human ensembl 74_37 -1 known missense c.651 p.K217N 1.000 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 145 0 0 64 40 38.4615 SRCAP 0 genome.wustl.edu 37 16 30731499 30731499 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 30731499 30731499 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.2834 p.R945Q 0.740 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 437 0 0 248 106 29.9435 ITGAM 0 genome.wustl.edu 37 16 31277142 31277142 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31277142 31277142 G A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.249 p.E83 0.998 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 52 0 0 21 19 47.5 ITGAM 0 genome.wustl.edu 37 16 31282341 31282341 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31282341 31282341 A C SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.494 p.D165A 0.935 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 273 0 0 139 78 35.9447 ITGAX 0 genome.wustl.edu 37 16 31382767 31382767 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31382767 31382767 T C SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.1954 p.S652P 0.041 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 110 0 0 44 24 35.2941 ITGAX 0 genome.wustl.edu 37 16 31391336 31391336 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31391336 31391336 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.3010 p.A1004T 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 96 0 0 47 26 35.6164 ITGAD 0 genome.wustl.edu 37 16 31405651 31405651 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31405651 31405651 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known silent c.126 p.F42 0.597 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 47 0 0 32 12 27.2727 C16orf58 0 genome.wustl.edu 37 16 31504366 31504366 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31504366 31504366 G T SNP C16orf58 ENST00000327237 human ensembl 74_37 -1 known silent c.1020 p.V340 0.944 NULL pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 45 0 0 23 10 30.303 AHSP 0 genome.wustl.edu 37 16 31539893 31539893 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31539893 31539893 G T SNP AHSP ENST00000302312 human ensembl 74_37 +1 known missense c.190 p.D64Y 0.845 pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot - no_errors AHSP HGNC ENSG00000169877 98 0 0 56 19 25.3333 AHSP 0 genome.wustl.edu 37 16 31539894 31539894 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31539894 31539894 A G SNP AHSP ENST00000302312 human ensembl 74_37 +1 known missense c.191 p.D64G 0.819 pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot - no_errors AHSP HGNC ENSG00000169877 98 0 0 43 31 41.8919 ZNF267 0 genome.wustl.edu 37 16 31927273 31927273 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 31927273 31927273 G A SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.1703 p.R568Q 0.999 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 ZNF267 HGNC ENSG00000185947 63 0 0 43 23 34.8485 HERC2P4 0 genome.wustl.edu 37 16 32182858 32182858 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 32182858 32182858 C T SNP HERC2P4 ENST00000564730 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 203 0 0 119 26 17.931 HERC2P8 0 genome.wustl.edu 37 16 33123835 33123835 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 33123835 33123835 G A SNP HERC2P8 ENST00000567073 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors HERC2P8 HGNC ENSG00000261599 79 0 0 38 20 34.4828 ZNF263 0 genome.wustl.edu 37 16 3340119 3340119 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3340119 3340119 G T SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.1613 p.R538I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 64 0 0 40 19 32.2034 TIGD7 0 genome.wustl.edu 37 16 3349373 3349373 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3349373 3349373 G A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known silent c.1242 p.G414 0.797 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 222 0 0 172 92 34.8485 TIGD7 0 genome.wustl.edu 37 16 3349597 3349597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3349597 3349597 G A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.1018 p.R340W 0.935 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 98 0 0 53 24 31.1688 BMS1P8 0 genome.wustl.edu 37 16 33497993 33497993 + RNA SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 33497993 33497993 G C SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors BMS1P8 HGNC ENSG00000260518 132 0 0 137 22 13.8365 RNA5-8SP2 0 genome.wustl.edu 37 16 33965525 33965525 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 33965525 33965525 C T SNP RNA5-8SP2 ENST00000363564 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP2 HGNC ENSG00000200434 81 0 0 51 16 23.8806 ZNF597 0 genome.wustl.edu 37 16 3486471 3486471 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3486471 3486471 A G SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known silent c.1228 p.L410 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 - no_errors ZNF597 HGNC ENSG00000167981 49 0 0 36 17 32.0755 SLX4 0 genome.wustl.edu 37 16 3644567 3644567 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3644567 3644567 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.2047 p.A683T 0.331 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 102 0 0 37 13 26 TRAP1 0 genome.wustl.edu 37 16 3713498 3713498 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3713498 3713498 C T SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known silent c.1635 p.K545 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 161 0 0 72 40 35.7143 CREBBP 0 genome.wustl.edu 37 16 3807913 3807913 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3807913 3807913 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3506 p.R1169H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 116 0 0 45 33 42.3077 CREBBP 0 genome.wustl.edu 37 16 3900321 3900321 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 3900321 3900321 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.775 p.A259T 0.503 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 155 0 0 74 34 31.4815 ADCY9 0 genome.wustl.edu 37 16 4015871 4015871 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 4015871 4015871 G T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.3967 p.R1323 0.352 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 155 0 0 73 35 32.4074 ADCY9 0 genome.wustl.edu 37 16 4016451 4016451 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 4016451 4016451 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.3387 p.S1129 0.968 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 150 0 0 58 32 35.5556 GLIS2 0 genome.wustl.edu 37 16 4383520 4383520 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 4383520 4383520 G A SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known silent c.345 p.S115 0.977 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 48 0 0 18 15 45.4545 PAM16 0 genome.wustl.edu 37 16 4390266 4390266 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 4390266 4390266 T G SNP PAM16 ENST00000573450 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PAM16 HGNC ENSG00000217930 87 0 0 32 24 42.8571 SHCBP1 0 genome.wustl.edu 37 16 46633805 46633805 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 46633805 46633805 C T SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known missense c.1283 p.G428D 0.999 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 71 0 0 30 23 43.3962 MYLK3 0 genome.wustl.edu 37 16 46766221 46766221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 46766221 46766221 C T SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.1361 p.G454E 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK3 HGNC ENSG00000140795 135 0 0 59 26 30.5882 NETO2 0 genome.wustl.edu 37 16 47163219 47163219 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 47163219 47163219 G A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known nonsense c.148 p.R50* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 169 0 0 113 55 32.7381 PHKB 0 genome.wustl.edu 37 16 47723014 47723014 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 47723014 47723014 A T SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.2693 p.D898V 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 122 0 0 78 28 26.4151 ABCC12 0 genome.wustl.edu 37 16 48122497 48122497 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 48122497 48122497 T G SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.3434 p.Q1145P 0.541 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 113 0 0 57 30 34.4828 ABCC11 0 genome.wustl.edu 37 16 48226615 48226615 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 48226615 48226615 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.2522 p.R841Q 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 127 0 0 57 32 35.9551 ABCC11 0 genome.wustl.edu 37 16 48249223 48249223 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 48249223 48249223 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.984 p.Q328 0.001 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 103 0 0 65 38 36.8932 ABCC11 0 genome.wustl.edu 37 16 48265757 48265757 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 48265757 48265757 C A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.76 p.D26Y 0.928 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 179 0 0 106 63 37.2781 LONP2 0 genome.wustl.edu 37 16 48381506 48381506 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 48381506 48381506 G A SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.2027 p.R676Q 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 134 0 0 68 37 35.2381 ZNF423 0 genome.wustl.edu 37 16 49671572 49671572 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 49671572 49671572 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.1491 p.E497 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 103 0 0 57 27 32.1429 ZNF423 0 genome.wustl.edu 37 16 49671995 49671995 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 49671995 49671995 A C SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1068 p.S356R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 50 0 0 27 9 25 ZNF423 0 genome.wustl.edu 37 16 49764857 49764857 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 49764857 49764857 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.102 p.C34 0.897 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 314 0 0 116 84 42 HEATR3 0 genome.wustl.edu 37 16 50104153 50104153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50104153 50104153 C T SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known missense c.464 p.S155F 0.243 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 69 0 0 46 22 32.3529 HEATR3 0 genome.wustl.edu 37 16 50112911 50112911 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50112911 50112911 C T SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known silent c.1023 p.F341 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 87 0 0 79 37 31.8966 BRD7 0 genome.wustl.edu 37 16 50359754 50359754 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50359754 50359754 C T SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known silent c.1236 p.P412 0.712 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 54 0 0 62 4 6.06061 BRD7 0 genome.wustl.edu 37 16 50384079 50384079 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50384079 50384079 C A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known splice_site c.447-1 e5-1 1.000 - - - no_errors BRD7 HGNC ENSG00000166164 54 0 0 34 23 40.3509 SNX20 0 genome.wustl.edu 37 16 50709814 50709814 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50709814 50709814 C T SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.149 p.S50N 0.928 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 97 0 0 36 18 33.3333 NOD2 0 genome.wustl.edu 37 16 50759457 50759457 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50759457 50759457 G T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.2940 p.K980N 0.400 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 113 0 0 60 14 18.9189 CYLD 0 genome.wustl.edu 37 16 50784016 50784016 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 50784016 50784016 G T SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.407 p.R136I 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 151 0 0 96 50 34.2466 C16orf89 0 genome.wustl.edu 37 16 5105290 5105290 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 5105290 5105290 A C SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.939 p.I313M 0.994 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 27 0 0 17 12 41.3793 SALL1 0 genome.wustl.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 51173150 51173150 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2983 p.R995W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 134 0 0 70 28 28.5714 SALL1 0 genome.wustl.edu 37 16 51175943 51175943 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 51175943 51175943 T C SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.190 p.N64D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 196 0 0 133 27 16.875 CHD9 0 genome.wustl.edu 37 16 53190731 53190731 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 53190731 53190731 T C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.730 p.C244R 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 119 1 0.833333 97 40 29.1971 RBL2 0 genome.wustl.edu 37 16 53504328 53504328 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 53504328 53504328 T G SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known missense c.2279 p.F760C 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 74 0 0 53 16 23.1884 AKTIP 0 genome.wustl.edu 37 16 53529195 53529195 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 53529195 53529195 G A SNP AKTIP ENST00000300245 human ensembl 74_37 -1 known missense c.292 p.P98S 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 80 0 0 33 15 31.25 IRX6 0 genome.wustl.edu 37 16 55363164 55363164 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55363164 55363164 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1274 p.A425V 0.964 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 127 0 0 75 39 34.2105 LPCAT2 0 genome.wustl.edu 37 16 55562474 55562474 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55562474 55562474 G A SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.497 p.R166Q 0.670 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 135 0 0 90 43 32.3308 SLC6A2 0 genome.wustl.edu 37 16 55731866 55731866 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55731866 55731866 C T SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known nonsense c.1318 p.R440* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 142 0 0 79 28 26.1682 CES1 0 genome.wustl.edu 37 16 55844493 55844493 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55844493 55844493 G T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.1254 p.F418L 0.044 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 356 0 0 238 42 15 CES1 0 genome.wustl.edu 37 16 55855305 55855305 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55855305 55855305 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.668 p.A223V 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 148 0 0 92 18 16.3636 CES5A 0 genome.wustl.edu 37 16 55886932 55886932 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55886932 55886932 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.1221 p.P407 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 122 0 0 52 21 28.7671 CES5A 0 genome.wustl.edu 37 16 55903558 55903558 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 55903558 55903558 G A SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.603 p.V201 0.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 49 0 0 26 11 29.7297 DKFZP434H168 0 genome.wustl.edu 37 16 56226635 56226635 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 56226635 56226635 C T SNP DKFZP434H168 ENST00000567381 human ensembl 74_37 -1 known rna NULL NULL 0.747 - - - no_errors CTD-2050B12.2 Clone_based_vega_gene ENSG00000261439 19 0 0 8 5 38.4615 BBS2 0 genome.wustl.edu 37 16 56534811 56534811 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 56534811 56534811 A G SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known missense c.1352 p.V451A 1.000 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 102 0 0 59 28 32.1839 MT1G 0 genome.wustl.edu 37 16 56700816 56700816 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 56700816 56700816 G A SNP MT1G ENST00000379811 human ensembl 74_37 -1 known missense c.164 p.S55L 0.026 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1G HGNC ENSG00000125144 190 0 0 93 59 38.8158 ENSG00000259827 0 genome.wustl.edu 37 16 56721496 56721496 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 56721496 56721496 A C SNP ENSG00000259827 ENST00000567563 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-343H19.2 Clone_based_vega_gene ENSG00000259827 9 0 0 3 5 62.5 RAB11FIP3 0 genome.wustl.edu 37 16 570496 570496 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 570496 570496 A G SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.2189 p.N730S 0.999 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 180 0 0 79 40 33.6134 CPNE2 0 genome.wustl.edu 37 16 57180125 57180125 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57180125 57180125 C T SNP CPNE2 ENST00000290776 human ensembl 74_37 +1 known silent c.1431 p.F477 0.093 smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE2 HGNC ENSG00000140848 11 0 0 4 2 33.3333 GPR114 0 genome.wustl.edu 37 16 57608945 57608945 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57608945 57608945 C A SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known missense c.1427 p.S476Y 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 69 0 0 20 16 44.4444 GPR56 0 genome.wustl.edu 37 16 57684226 57684226 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57684226 57684226 G A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.27 p.T9 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 124 0 0 64 26 28.8889 CCDC135 0 genome.wustl.edu 37 16 57735979 57735979 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57735979 57735979 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known silent c.636 p.S212 0.002 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 132 0 0 64 41 39.0476 CCDC135 0 genome.wustl.edu 37 16 57741461 57741461 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57741461 57741461 G T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.948 p.E316D 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 82 0 0 38 13 25.4902 CCDC135 0 genome.wustl.edu 37 16 57762317 57762317 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57762317 57762317 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.2212 p.E738K 0.998 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 227 0 0 70 51 42.1488 CCDC135 0 genome.wustl.edu 37 16 57764845 57764845 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57764845 57764845 G T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.2394 p.E798D 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 123 0 0 74 13 14.9425 KATNB1 0 genome.wustl.edu 37 16 57789257 57789257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 57789257 57789257 G A SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1417 p.A473T 1.000 NULL 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 KATNB1 HGNC ENSG00000140854 108 0 0 51 19 27.1429 C16orf80 0 genome.wustl.edu 37 16 58150852 58150852 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 58150852 58150852 G A SNP C16orf80 ENST00000262498 human ensembl 74_37 -1 known missense c.88 p.R30W 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC ENSG00000070761 77 0 0 43 14 24.5614 CSNK2A2 0 genome.wustl.edu 37 16 58220746 58220746 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 58220746 58220746 C A SNP CSNK2A2 ENST00000262506 human ensembl 74_37 -1 known missense c.231 p.K77N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A2 HGNC ENSG00000070770 97 0 0 78 37 32.1739 PRSS54 0 genome.wustl.edu 37 16 58320087 58320087 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 58320087 58320087 G A SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known silent c.276 p.V92 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 154 0 0 99 45 31.25 NDRG4 0 genome.wustl.edu 37 16 58538160 58538160 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 58538160 58538160 C T SNP NDRG4 ENST00000394282 human ensembl 74_37 +1 known missense c.386 p.A129V 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 225 0 0 92 54 36.9863 CNOT1 0 genome.wustl.edu 37 16 58581097 58581097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 58581097 58581097 C T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.3743 p.R1248H 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 164 0 0 118 60 33.7079 CNOT1 0 genome.wustl.edu 37 16 58610407 58610407 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 58610407 58610407 G T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.1664 p.A555D 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 94 0 0 53 25 32.0513 CDH8 0 genome.wustl.edu 37 16 61687875 61687875 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 61687875 61687875 A C SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.2037 p.A679 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 219 0 0 127 60 32.0856 CDH8 0 genome.wustl.edu 37 16 61747770 61747770 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 61747770 61747770 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1629 p.P543 0.934 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 72 0 0 40 18 31.0345 CDH8 0 genome.wustl.edu 37 16 61935262 61935262 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 61935262 61935262 C A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.368 p.R123I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 115 0 0 58 48 45.283 LINC00922 0 genome.wustl.edu 37 16 65319224 65319224 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 65319224 65319224 A G SNP LINC00922 ENST00000564041 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00922 HGNC ENSG00000261742 27 0 0 16 5 23.8095 DYNC1LI2 0 genome.wustl.edu 37 16 66764102 66764102 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66764102 66764102 C A SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.954 p.K318N 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 58 0 0 41 11 21.1538 NAE1 0 genome.wustl.edu 37 16 66842448 66842448 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66842448 66842448 G T SNP NAE1 ENST00000290810 human ensembl 74_37 -1 known missense c.1306 p.H436N 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 128 0 0 113 54 32.3353 NAE1 0 genome.wustl.edu 37 16 66844292 66844292 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66844292 66844292 C A SNP NAE1 ENST00000290810 human ensembl 74_37 -1 known nonsense c.1135 p.E379* 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 96 0 0 65 37 36.2745 PDP2 0 genome.wustl.edu 37 16 66918406 66918406 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66918406 66918406 T G SNP PDP2 ENST00000311765 human ensembl 74_37 +1 known missense c.219 p.F73L 0.993 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP2 HGNC ENSG00000172840 160 0 0 88 43 32.8244 CDH16 0 genome.wustl.edu 37 16 66943282 66943282 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66943282 66943282 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known silent c.2280 p.I760 0.335 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 44 0 0 16 5 23.8095 CDH16 0 genome.wustl.edu 37 16 66946441 66946441 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66946441 66946441 A G SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1325 p.I442T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 103 0 0 44 20 31.25 CDH16 0 genome.wustl.edu 37 16 66949216 66949216 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66949216 66949216 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known nonsense c.490 p.R164* 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 111 0 0 46 17 26.9841 CES3 0 genome.wustl.edu 37 16 66998542 66998542 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 66998542 66998542 C T SNP CES3 ENST00000303334 human ensembl 74_37 +1 known missense c.731 p.A244V 0.067 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 179 0 0 89 47 34.5588 B3GNT9 0 genome.wustl.edu 37 16 67183690 67183690 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 67183690 67183690 G A SNP B3GNT9 ENST00000449549 human ensembl 74_37 -1 known silent c.699 p.F233 0.419 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 41 0 0 16 12 42.8571 CTCF 0 genome.wustl.edu 37 16 67645910 67645910 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 67645910 67645910 A C SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.838 p.N280H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 149 0 0 116 13 10.0775 RLTPR 0 genome.wustl.edu 37 16 67681466 67681466 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 67681466 67681466 C T SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.832 p.R278W 0.037 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 22 0 0 14 6 30 ENSG00000263126 0 genome.wustl.edu 37 16 67918117 67918117 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 67918117 67918117 G A SNP ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 10 0 0 4 3 42.8571 DUS2 0 genome.wustl.edu 37 16 68107995 68107995 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 68107995 68107995 G A SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.869 p.R290Q 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 102 0 0 37 20 35.0877 NFATC3 0 genome.wustl.edu 37 16 68156942 68156942 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 68156942 68156942 G T SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known missense c.1156 p.D386Y 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 184 1 0.540541 110 46 29.4872 PRMT7 0 genome.wustl.edu 37 16 68381545 68381545 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 68381545 68381545 C T SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known silent c.1287 p.V429 0.024 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 79 0 0 33 22 40 PRMT7 0 genome.wustl.edu 37 16 68387404 68387404 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 68387404 68387404 C T SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known missense c.1585 p.R529W 1.000 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 119 1 0.833333 56 20 26.3158 SMPD3 0 genome.wustl.edu 37 16 68404923 68404923 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 68404923 68404923 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.1162 p.D388N 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 83 0 0 27 10 27.027 ZFP90 0 genome.wustl.edu 37 16 68597611 68597611 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 68597611 68597611 G T SNP ZFP90 ENST00000398253 human ensembl 74_37 +1 known missense c.921 p.E307D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP90 HGNC ENSG00000184939 90 0 0 55 34 38.2022 COG8 0 genome.wustl.edu 37 16 69368645 69368645 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 69368645 69368645 T G SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.1192 p.M398L 1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 121 0 0 91 5 5.20833 PDPR 0 genome.wustl.edu 37 16 70177526 70177526 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 70177526 70177526 A C SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.1719 p.E573D 0.977 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 45 0 0 27 8 22.8571 LOC100506083 0 genome.wustl.edu 37 16 70349759 70349759 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 70349759 70349759 A C SNP LOC100506083 ENST00000562077 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-529K1.2 Clone_based_vega_gene ENSG00000261777 29 0 0 27 11 28.9474 SF3B3 0 genome.wustl.edu 37 16 70572358 70572358 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 70572358 70572358 G T SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.958 p.D320Y 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 123 0 0 84 51 37.7778 IL34 0 genome.wustl.edu 37 16 70688478 70688478 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 70688478 70688478 G A SNP IL34 ENST00000288098 human ensembl 74_37 +1 known silent c.66 p.E22 0.164 NULL prints_IL-34 - no_errors IL34 HGNC ENSG00000157368 162 0 0 60 28 31.8182 HYDIN 0 genome.wustl.edu 37 16 70993581 70993581 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 70993581 70993581 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.6111 p.I2037 0.997 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 70 0 0 40 18 31.0345 HYDIN 0 genome.wustl.edu 37 16 71009055 71009055 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71009055 71009055 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.4756 p.R1586C 0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 10 0 0 5 5 50 HYDIN 0 genome.wustl.edu 37 16 71025987 71025987 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71025987 71025987 T C SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known silent c.3627 p.L1209 0.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 97 0 0 52 25 32.4675 HYDIN 0 genome.wustl.edu 37 16 71209538 71209538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71209538 71209538 C T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.488 p.R163Q 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 101 0 0 52 28 35 HYDIN 0 genome.wustl.edu 37 16 71212926 71212926 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71212926 71212926 C T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.286 p.A96T 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 85 0 0 58 24 29.2683 CMTR2 0 genome.wustl.edu 37 16 71318614 71318614 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71318614 71318614 A C SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known missense c.1210 p.F404V 0.998 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 30 0 0 23 13 36.1111 CALB2 0 genome.wustl.edu 37 16 71408706 71408706 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71408706 71408706 A C SNP CALB2 ENST00000302628 human ensembl 74_37 +1 known missense c.230 p.K77T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB2 HGNC ENSG00000172137 64 0 0 28 17 37.7778 CALB2 0 genome.wustl.edu 37 16 71423745 71423745 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71423745 71423745 C T SNP CALB2 ENST00000302628 human ensembl 74_37 +1 known missense c.793 p.L265F 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB2 HGNC ENSG00000172137 212 0 0 85 40 32 TAT 0 genome.wustl.edu 37 16 71606212 71606212 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71606212 71606212 C T SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.583 p.E195K 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 98 0 0 53 27 33.75 AP1G1 0 genome.wustl.edu 37 16 71805084 71805084 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 71805084 71805084 T G SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known missense c.609 p.K203N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 39 0 0 30 24 44.4444 DHODH 0 genome.wustl.edu 37 16 72045994 72045994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 72045994 72045994 C A SNP DHODH ENST00000219240 human ensembl 74_37 +1 known missense c.67 p.L23I 0.686 NULL pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 155 0 0 100 38 27.5362 ZFHX3 0 genome.wustl.edu 37 16 72829629 72829629 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 72829629 72829629 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.6952 p.D2318N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 308 0 0 114 81 41.5385 NPIPB15 0 genome.wustl.edu 37 16 74419325 74419325 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 74419325 74419325 G A SNP NPIPB15 ENST00000429990 human ensembl 74_37 +1 known missense c.335 p.R112H 0.001 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 86 0 0 59 11 15.7143 GABARAPL2 0 genome.wustl.edu 37 16 75611253 75611253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 75611253 75611253 A C SNP GABARAPL2 ENST00000037243 human ensembl 74_37 +1 known missense c.340 p.T114P 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL2 HGNC ENSG00000034713 107 0 0 71 26 26.8041 CNTNAP4 0 genome.wustl.edu 37 16 76350318 76350318 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 76350318 76350318 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.91 p.D31N 1.000 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,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 39 0 0 26 6 18.75 CNTNAP4 0 genome.wustl.edu 37 16 76461353 76461353 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 76461353 76461353 T G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.392 p.F131C 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,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 176 0 0 111 41 26.9737 ADAMTS18 0 genome.wustl.edu 37 16 77334283 77334283 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 77334283 77334283 T C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2551 p.N851D 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 93 0 0 59 35 37.234 ADAMTS18 0 genome.wustl.edu 37 16 77396073 77396073 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 77396073 77396073 C A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1145 p.R382I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 62 0 0 43 19 30.6452 RBFOX1 0 genome.wustl.edu 37 16 7759064 7759064 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 7759064 7759064 A G SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.1184 p.D395G 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 126 0 0 61 26 29.8851 NARFL 0 genome.wustl.edu 37 16 780269 780269 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 780269 780269 C T SNP NARFL ENST00000562862 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC ENSG00000103245 25 0 0 9 8 47.0588 CLEC3A 0 genome.wustl.edu 37 16 78064634 78064634 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 78064634 78064634 C T SNP CLEC3A ENST00000299642 human ensembl 74_37 +1 known nonsense c.517 p.R173* 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3A HGNC ENSG00000166509 139 0 0 78 38 32.7586 CDYL2 0 genome.wustl.edu 37 16 80718445 80718445 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 80718445 80718445 C A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.606 p.E202D 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 108 0 0 56 28 33.3333 CENPN 0 genome.wustl.edu 37 16 81053750 81053750 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81053750 81053750 C T SNP CENPN ENST00000299572 human ensembl 74_37 +1 known nonsense c.400 p.R134* 1.000 pfam_Chl4/mis15/CENP-N pfam_Chl4/mis15/CENP-N - no_errors CENPN HGNC ENSG00000166451 70 0 0 35 13 27.0833 ATMIN 0 genome.wustl.edu 37 16 81077066 81077066 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81077066 81077066 C T SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known silent c.963 p.A321 0.027 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 180 0 0 89 58 39.4558 C16orf46 0 genome.wustl.edu 37 16 81097524 81097524 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81097524 81097524 T G SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known missense c.37 p.N13H 0.437 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 83 0 0 69 31 31 PKD1L2 0 genome.wustl.edu 37 16 81213297 81213297 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81213297 81213297 C T SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.2213 p.S738N 0.572 pfam_PKD/REJ-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 87 0 0 40 23 36.5079 CMIP 0 genome.wustl.edu 37 16 81685954 81685954 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81685954 81685954 G A SNP CMIP ENST00000537098 human ensembl 74_37 +1 known silent c.624 p.S208 0.655 NULL NULL - no_errors CMIP HGNC ENSG00000153815 83 0 0 59 5 7.8125 PLCG2 0 genome.wustl.edu 37 16 81934292 81934292 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81934292 81934292 A C SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.1269 p.E423D 0.579 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 72 0 0 24 16 40 PLCG2 0 genome.wustl.edu 37 16 81944184 81944184 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 81944184 81944184 A C SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.1793 p.K598T 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 276 0 0 174 32 15.534 MSLNL 0 genome.wustl.edu 37 16 823249 823249 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 823249 823249 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.2019 p.Y673 0.896 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 100 1 0.990099 54 18 25 MSLNL 0 genome.wustl.edu 37 16 832053 832053 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 832053 832053 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.70 p.P24S 0.093 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 10 0 0 8 3 27.2727 NECAB2 0 genome.wustl.edu 37 16 84031879 84031879 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 84031879 84031879 C T SNP NECAB2 ENST00000305202 human ensembl 74_37 +1 known missense c.919 p.R307C 0.999 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB2 HGNC ENSG00000103154 53 0 0 30 14 31.8182 HSDL1 0 genome.wustl.edu 37 16 84164808 84164808 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 84164808 84164808 A G SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known missense c.119 p.V40A 0.229 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 179 0 0 112 40 26.3158 USP10 0 genome.wustl.edu 37 16 84792352 84792352 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 84792352 84792352 A C SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.1235 p.K412T 1.000 NULL pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 156 0 0 75 43 36.4407 CRISPLD2 0 genome.wustl.edu 37 16 84879404 84879404 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 84879404 84879404 G A SNP CRISPLD2 ENST00000262424 human ensembl 74_37 +1 known missense c.253 p.E85K 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 122 0 0 56 32 36.3636 JPH3 0 genome.wustl.edu 37 16 87636725 87636725 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 87636725 87636725 T C SNP JPH3 ENST00000301008 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors JPH3 HGNC ENSG00000154118 107 0 0 34 24 41.3793 JPH3 0 genome.wustl.edu 37 16 87723916 87723916 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 87723916 87723916 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known silent c.1950 p.F650 0.913 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 14 0 0 5 4 44.4444 SLC7A5 0 genome.wustl.edu 37 16 87902728 87902728 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 87902728 87902728 G A SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.301 p.L101F 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 67 0 0 32 29 47.541 ENSG00000260603 0 genome.wustl.edu 37 16 87927185 87927185 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 87927185 87927185 G A SNP ENSG00000260603 ENST00000562644 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors GS1-21A4.1 Clone_based_vega_gene ENSG00000260603 98 0 0 46 23 33.3333 CBFA2T3 0 genome.wustl.edu 37 16 88958681 88958681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 88958681 88958681 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.592 p.R198C 0.997 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 85 0 0 40 16 28.5714 CDH15 0 genome.wustl.edu 37 16 89250017 89250017 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 89250017 89250017 T G SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.419 p.I140S 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 - no_errors CDH15 HGNC ENSG00000129910 53 0 0 19 13 40.625 ANKRD11 0 genome.wustl.edu 37 16 89348754 89348754 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 89348754 89348754 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4196 p.A1399V 0.017 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 195 0 0 96 52 35.1351 VPS9D1 0 genome.wustl.edu 37 16 89776282 89776282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 89776282 89776282 C T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1291 p.E431K 0.998 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 205 0 0 96 50 34.2466 USP7 0 genome.wustl.edu 37 16 8988445 8988445 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 8988445 8988445 T G SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.3164 p.E1055A 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 80 0 0 37 28 43.0769 USP7 0 genome.wustl.edu 37 16 9000408 9000408 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 9000408 9000408 C A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known nonsense c.1303 p.E435* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 80 0 0 38 17 30.9091 DEF8 0 genome.wustl.edu 37 16 90016033 90016033 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 90016033 90016033 A G SNP DEF8 ENST00000268676 human ensembl 74_37 +1 known missense c.160 p.T54A 0.000 NULL pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DEF8 HGNC ENSG00000140995 92 0 0 41 22 34.9206 C16orf72 0 genome.wustl.edu 37 16 9196898 9196898 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 9196898 9196898 G A SNP C16orf72 ENST00000327827 human ensembl 74_37 +1 known missense c.365 p.R122Q 1.000 NULL NULL - no_errors C16orf72 HGNC ENSG00000182831 128 0 0 65 33 33.6735 GRIN2A 0 genome.wustl.edu 37 16 9916169 9916169 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 9916169 9916169 T G SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.2120 p.K707T 0.994 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 129 0 0 66 41 38.3178 MYH13 0 genome.wustl.edu 37 17 10210275 10210275 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10210275 10210275 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.5276 p.A1759V 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 120 0 0 54 27 33.3333 MYH13 0 genome.wustl.edu 37 17 10227375 10227375 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10227375 10227375 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.2898 p.T966 0.006 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 77 0 0 34 19 35.8491 MYH8 0 genome.wustl.edu 37 17 10297697 10297697 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10297697 10297697 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.5035 p.R1679C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 113 0 0 67 25 27.1739 MYH8 0 genome.wustl.edu 37 17 10312471 10312471 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10312471 10312471 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.1908 p.A636 0.808 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 68 0 0 52 15 22.3881 MYH4 0 genome.wustl.edu 37 17 10357945 10357945 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10357945 10357945 T G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.2618 p.K873T 1.000 NULL 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 165 0 0 99 46 31.7241 MYH1 0 genome.wustl.edu 37 17 10402034 10402034 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10402034 10402034 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4090 p.A1364T 0.926 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 158 0 0 98 68 40.9639 MYH1 0 genome.wustl.edu 37 17 10405120 10405120 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10405120 10405120 C A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known nonsense c.3220 p.E1074* 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 37 0 0 26 14 35 MYH2 0 genome.wustl.edu 37 17 10428901 10428901 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10428901 10428901 T G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4404 p.E1468D 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 99 0 0 56 33 37.0787 MYH2 0 genome.wustl.edu 37 17 10429120 10429120 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10429120 10429120 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4261 p.E1421K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 120 1 0.826446 74 36 32.7273 MYH2 0 genome.wustl.edu 37 17 10447032 10447032 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10447032 10447032 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.737 p.R246H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 119 0 0 62 27 30.3371 MYH2 0 genome.wustl.edu 37 17 10447416 10447416 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10447416 10447416 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known splice_site c.533+1 e4+1 1.000 - - - no_errors MYH2 HGNC ENSG00000125414 97 0 0 46 19 29.2308 MYH3 0 genome.wustl.edu 37 17 10541674 10541674 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10541674 10541674 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.3415 p.D1139N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 83 0 0 42 16 27.5862 MYH3 0 genome.wustl.edu 37 17 10549159 10549159 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10549159 10549159 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.1006 p.A336T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 143 0 0 71 22 23.6559 MYH3 0 genome.wustl.edu 37 17 10550506 10550506 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 10550506 10550506 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.891 p.E297 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 131 0 0 75 36 32.4324 DNAH9 0 genome.wustl.edu 37 17 11622691 11622691 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 11622691 11622691 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5593 p.S1865G 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 84 0 0 47 28 37.3333 DNAH9 0 genome.wustl.edu 37 17 11660968 11660968 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 11660968 11660968 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.6954 p.F2318 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 66 0 0 59 16 21.3333 DNAH9 0 genome.wustl.edu 37 17 11806042 11806042 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 11806042 11806042 T G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11413 p.S3805A 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 144 0 0 67 46 40.708 DNAH9 0 genome.wustl.edu 37 17 11837235 11837235 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 11837235 11837235 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.12336 p.I4112 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 121 0 0 59 29 32.9545 DNAH9 0 genome.wustl.edu 37 17 11840674 11840674 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 11840674 11840674 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.12495 p.I4165 0.542 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 177 0 0 90 47 34.3066 ZNF18 0 genome.wustl.edu 37 17 11881837 11881837 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 11881837 11881837 C A SNP ZNF18 ENST00000322748 human ensembl 74_37 -1 known nonsense c.1087 p.E363* 0.189 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 279 0 0 142 79 35.7466 CDRT1 0 genome.wustl.edu 37 17 15522795 15522795 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 15522795 15522795 G A SNP CDRT1 ENST00000395906 human ensembl 74_37 -1 known missense c.32 p.A11V 0.115 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 520 0 0 345 98 22.1219 ZNF286A 0 genome.wustl.edu 37 17 15620159 15620159 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 15620159 15620159 G T SNP ZNF286A ENST00000413242 human ensembl 74_37 +1 known missense c.1121 p.R374I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF286A HGNC ENSG00000255104 39 0 0 31 12 27.907 ZNF286A 0 genome.wustl.edu 37 17 15620583 15620583 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 15620583 15620583 T G SNP ZNF286A ENST00000413242 human ensembl 74_37 +1 known silent c.1545 p.V515 0.999 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 ZNF286A HGNC ENSG00000255104 41 0 0 19 17 47.2222 TTC19 0 genome.wustl.edu 37 17 15928385 15928385 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 15928385 15928385 C T SNP TTC19 ENST00000486880 human ensembl 74_37 +1 known missense c.1094 p.A365V 0.978 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 101 0 0 56 32 36.3636 NCOR1 0 genome.wustl.edu 37 17 16041478 16041478 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 16041478 16041478 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.1401 p.E467 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 46 0 0 38 11 22.449 ZNF287 0 genome.wustl.edu 37 17 16455532 16455532 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 16455532 16455532 G T SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.1924 p.H642N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 80 0 0 52 26 33.3333 ZNF287 0 genome.wustl.edu 37 17 16467135 16467135 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 16467135 16467135 G A SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.506 p.S169L 1.000 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 81 0 0 45 23 33.8235 ZNF624 0 genome.wustl.edu 37 17 16525654 16525654 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 16525654 16525654 G A SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.2546 p.S849L 0.985 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 ZNF624 HGNC ENSG00000197566 145 0 0 102 52 33.7662 CCDC144A 0 genome.wustl.edu 37 17 16638008 16638008 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 16638008 16638008 C A SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.2423 p.S808Y 0.345 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 11 0 0 5 3 37.5 RASD1 0 genome.wustl.edu 37 17 17398896 17398896 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 17398896 17398896 T C SNP RASD1 ENST00000225688 human ensembl 74_37 -1 known missense c.389 p.N130S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC ENSG00000108551 43 0 0 12 7 36.8421 DRG2 0 genome.wustl.edu 37 17 18003967 18003967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18003967 18003967 G A SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.625 p.E209K 1.000 superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 43 0 0 17 9 34.6154 MYO15A 0 genome.wustl.edu 37 17 18027810 18027810 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18027810 18027810 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.3623 p.R1208H 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 62 0 0 26 9 25.7143 MYO15A 0 genome.wustl.edu 37 17 18036584 18036584 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18036584 18036584 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.4366 p.R1456C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 70 0 0 42 19 31.1475 USP32P2 0 genome.wustl.edu 37 17 18416730 18416730 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18416730 18416730 G T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 114 0 0 57 34 37.3626 ZNF286B 0 genome.wustl.edu 37 17 18565271 18565271 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18565271 18565271 A C SNP ZNF286B ENST00000545289 human ensembl 74_37 -1 known silent c.1548 p.V516 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ENSG00000249459 106 0 0 96 8 7.69231 FBXW10 0 genome.wustl.edu 37 17 18653227 18653227 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18653227 18653227 A G SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.863 p.Y288C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 234 0 0 136 33 19.5266 FBXW10 0 genome.wustl.edu 37 17 18653257 18653257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18653257 18653257 G A SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.893 p.G298E 0.001 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 187 0 0 101 36 26.2774 FBXW10 0 genome.wustl.edu 37 17 18668094 18668094 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18668094 18668094 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.1560 p.F520 0.986 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_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 131 0 0 64 20 23.8095 FBXW10 0 genome.wustl.edu 37 17 18681858 18681858 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18681858 18681858 G T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.2433 p.K811N 0.082 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 62 0 0 33 16 32.6531 SLC5A10 0 genome.wustl.edu 37 17 18862465 18862465 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 18862465 18862465 C T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known silent c.201 p.F67 0.990 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 88 0 0 28 12 30 EPN2 0 genome.wustl.edu 37 17 19186779 19186779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 19186779 19186779 G A SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known missense c.347 p.G116D 1.000 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 110 0 0 56 35 38.4615 RNF112 0 genome.wustl.edu 37 17 19316718 19316718 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 19316718 19316718 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel silent c.714 p.G238 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 44 0 0 15 11 42.3077 SLC47A1 0 genome.wustl.edu 37 17 19451350 19451350 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 19451350 19451350 C T SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.359 p.A120V 0.002 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 120 0 0 54 30 35.7143 HIC1 0 genome.wustl.edu 37 17 1960258 1960258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 1960258 1960258 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.331 p.E111K 0.808 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 39 0 0 17 6 26.087 ALDH3A1 0 genome.wustl.edu 37 17 19641726 19641726 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 19641726 19641726 G A SNP ALDH3A1 ENST00000468746 human ensembl 74_37 -1 known missense c.1157 p.S386L 0.996 NULL pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3A1 HGNC ENSG00000108602 190 0 0 88 46 34.3284 AKAP10 0 genome.wustl.edu 37 17 19839708 19839708 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 19839708 19839708 A C SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known missense c.1358 p.F453C 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_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 AKAP10 HGNC ENSG00000108599 55 0 0 23 17 42.5 CCDC144CP 0 genome.wustl.edu 37 17 20224924 20224924 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 20224924 20224924 G A SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC144CP HGNC ENSG00000154898 386 0 0 204 104 33.7662 LGALS9B 0 genome.wustl.edu 37 17 20354903 20354903 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 20354903 20354903 C T SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known missense c.815 p.R272H 0.881 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 157 0 0 74 32 30.1887 DHRS7B 0 genome.wustl.edu 37 17 21094443 21094443 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 21094443 21094443 G T SNP DHRS7B ENST00000395511 human ensembl 74_37 +1 known nonsense c.955 p.E319* 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 210 0 0 93 32 25.6 TMEM11 0 genome.wustl.edu 37 17 21101654 21101654 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 21101654 21101654 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known missense c.562 p.E188K 1.000 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 226 1 0.440529 112 51 31.2883 KCNJ12 0 genome.wustl.edu 37 17 21319340 21319340 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 21319340 21319340 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.686 p.R229H 0.983 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 108 0 0 81 8 8.98876 SMG6 0 genome.wustl.edu 37 17 2201202 2201202 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 2201202 2201202 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.1995 p.E665 0.995 pfam_EST1 pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 150 0 0 88 43 32.8244 TSR1 0 genome.wustl.edu 37 17 2239404 2239404 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 2239404 2239404 T G SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.128 p.K43T 0.997 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 139 0 0 83 10 10.7527 PAFAH1B1 0 genome.wustl.edu 37 17 2570370 2570370 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 2570370 2570370 G T SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known nonsense c.277 p.E93* 1.000 pirsf_Dynein_regulator_LIS1 pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 95 0 0 53 28 34.5679 KSR1 0 genome.wustl.edu 37 17 25877595 25877595 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 25877595 25877595 C T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.233 p.A78V 0.996 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 238 0 0 108 57 34.5455 POLDIP2 0 genome.wustl.edu 37 17 26676190 26676190 + Splice_Site SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 26676190 26676190 T G SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known splice_site c.910-2 e11-2 1.000 - - - no_errors POLDIP2 HGNC ENSG00000004142 29 0 0 20 11 35.4839 SLC46A1 0 genome.wustl.edu 37 17 26731978 26731978 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 26731978 26731978 C T SNP SLC46A1 ENST00000440501 human ensembl 74_37 -1 known missense c.737 p.R246H 0.120 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC46A1 HGNC ENSG00000076351 181 1 0.549451 95 48 33.5664 RAB34 0 genome.wustl.edu 37 17 27041904 27041904 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 27041904 27041904 C A SNP RAB34 ENST00000447716 human ensembl 74_37 -1 known nonsense c.790 p.E264* 1.000 pfam_Small_GTPase,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC ENSG00000109113 113 0 0 67 27 28.7234 PHF12 0 genome.wustl.edu 37 17 27239795 27239795 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 27239795 27239795 G A SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.1794 p.V598 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 130 0 0 60 24 28.5714 MYO18A 0 genome.wustl.edu 37 17 27493497 27493497 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 27493497 27493497 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.462 p.S154 0.913 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 48 0 0 22 10 31.25 CRYBA1 0 genome.wustl.edu 37 17 27581350 27581350 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 27581350 27581350 C T SNP CRYBA1 ENST00000225387 human ensembl 74_37 +1 known missense c.631 p.R211C 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA1 HGNC ENSG00000108255 156 0 0 107 58 35.1515 GIT1 0 genome.wustl.edu 37 17 27906001 27906001 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 27906001 27906001 C T SNP GIT1 ENST00000394869 human ensembl 74_37 -1 known missense c.767 p.R256Q 1.000 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 235 0 0 96 49 33.7931 EFCAB5 0 genome.wustl.edu 37 17 28405430 28405430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 28405430 28405430 C T SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.2935 p.R979W 0.567 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 128 0 0 66 34 34 SLC6A4 0 genome.wustl.edu 37 17 28545146 28545146 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 28545146 28545146 C A SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known nonsense c.688 p.E230* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 80 0 0 39 23 37.0968 CPD 0 genome.wustl.edu 37 17 28769342 28769342 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 28769342 28769342 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known nonsense c.2247 p.W749* 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 74 0 0 69 34 33.0097 LRRC37BP1 0 genome.wustl.edu 37 17 28959165 28959165 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 28959165 28959165 G A SNP LRRC37BP1 ENST00000417404 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors LRRC37BP1 HGNC ENSG00000250462 32 0 0 27 8 22.8571 NF1 0 genome.wustl.edu 37 17 29541481 29541481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 29541481 29541481 A C SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.1405 p.K469Q 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 35 0 0 29 20 40.8163 NF1 0 genome.wustl.edu 37 17 29685995 29685995 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 29685995 29685995 T G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.8122 p.F2708V 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 57 0 0 35 15 30 RAB11FIP4 0 genome.wustl.edu 37 17 29854863 29854863 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 29854863 29854863 G A SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known silent c.1278 p.V426 0.998 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 16 0 0 10 4 28.5714 SUZ12 0 genome.wustl.edu 37 17 30303573 30303573 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 30303573 30303573 G A SNP SUZ12 ENST00000322652 human ensembl 74_37 +1 known missense c.857 p.R286Q 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 59 0 0 46 29 38.6667 OR1G1 0 genome.wustl.edu 37 17 3030537 3030537 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3030537 3030537 A C SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known missense c.309 p.F103L 0.400 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 OR1G1 HGNC ENSG00000183024 107 0 0 55 34 38.2022 C17orf75 0 genome.wustl.edu 37 17 30661574 30661574 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 30661574 30661574 G T SNP C17orf75 ENST00000225805 human ensembl 74_37 -1 known missense c.785 p.T262N 0.998 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 37 0 0 16 21 56.7568 ZNF207 0 genome.wustl.edu 37 17 30678857 30678857 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 30678857 30678857 G T SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known missense c.94 p.A32S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 78 0 0 94 25 21.0084 OR1A2 0 genome.wustl.edu 37 17 3101260 3101260 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3101260 3101260 G A SNP OR1A2 ENST00000381951 human ensembl 74_37 +1 known missense c.448 p.V150M 0.816 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 146 0 0 72 54 42.8571 MYO1D 0 genome.wustl.edu 37 17 31092067 31092067 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 31092067 31092067 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known silent c.864 p.T288 0.475 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 89 0 0 51 16 23.8806 OR3A1 0 genome.wustl.edu 37 17 3195189 3195189 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3195189 3195189 G A SNP OR3A1 ENST00000323404 human ensembl 74_37 -1 known nonsense c.688 p.R230* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 130 0 0 80 42 34.4262 OR3A1 0 genome.wustl.edu 37 17 3195809 3195809 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3195809 3195809 G A SNP OR3A1 ENST00000323404 human ensembl 74_37 -1 known missense c.68 p.A23V 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 119 0 0 60 36 37.5 CCL7 0 genome.wustl.edu 37 17 32597283 32597283 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 32597283 32597283 T C SNP CCL7 ENST00000200307 human ensembl 74_37 +1 known missense c.4 p.W2R 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL7 HGNC ENSG00000108688 63 0 0 42 17 28.8136 TMEM132E 0 genome.wustl.edu 37 17 32953302 32953302 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 32953302 32953302 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.224 p.R75H 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 26 0 0 10 4 28.5714 UNC45B 0 genome.wustl.edu 37 17 33513399 33513399 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 33513399 33513399 T C SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.2617 p.Y873H 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 122 0 0 57 26 31.3253 SLC35G3 0 genome.wustl.edu 37 17 33521053 33521053 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 33521053 33521053 C T SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.274 p.D92N 0.994 pfam_DMT pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 350 1 0.2849 131 64 32.8205 SLFN11 0 genome.wustl.edu 37 17 33689883 33689883 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 33689883 33689883 A G SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.944 p.I315T 0.001 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 176 0 0 113 62 35.4286 SLFN12 0 genome.wustl.edu 37 17 33738393 33738393 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 33738393 33738393 A G SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known silent c.1701 p.D567 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 75 0 0 54 33 37.931 PEX12 0 genome.wustl.edu 37 17 33903184 33903184 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 33903184 33903184 T G SNP PEX12 ENST00000225873 human ensembl 74_37 -1 known missense c.697 p.N233H 0.986 pfam_Pex_N,pirsf_PEX12 pfam_Pex_N,pirsf_PEX12 - no_errors PEX12 HGNC ENSG00000108733 97 0 0 65 28 30.1075 ENSG00000266999 0 genome.wustl.edu 37 17 34235884 34235884 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 34235884 34235884 A C SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 88 0 0 67 9 11.8421 TRPV3 0 genome.wustl.edu 37 17 3436055 3436055 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3436055 3436055 A G SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.961 p.Y321H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 104 0 0 42 22 34.375 TRPV3 0 genome.wustl.edu 37 17 3436154 3436154 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3436154 3436154 C T SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.862 p.D288N 0.972 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 86 0 0 50 19 27.5362 CCL4L1 0 genome.wustl.edu 37 17 34539886 34539886 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 34539886 34539886 T G SNP CCL4L1 ENST00000444414 human ensembl 74_37 +1 known missense c.194 p.F65C 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL4L1 HGNC ENSG00000205020 68 0 0 9 30 76.9231 MYO19 0 genome.wustl.edu 37 17 34863332 34863332 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 34863332 34863332 C T SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.1373 p.G458D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 101 0 0 55 19 25.6757 LHX1 0 genome.wustl.edu 37 17 35299591 35299591 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 35299591 35299591 G A SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known missense c.770 p.R257Q 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 20 0 0 4 5 55.5556 AATF 0 genome.wustl.edu 37 17 35378259 35378259 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 35378259 35378259 G A SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.1493 p.R498Q 1.000 pfam_AATF_C pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 49 0 0 23 8 25.8065 ACACA 0 genome.wustl.edu 37 17 35550339 35550339 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 35550339 35550339 A C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.4176 p.F1392L 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 35 0 0 36 20 35.7143 SYNRG 0 genome.wustl.edu 37 17 35913722 35913722 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 35913722 35913722 A C SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.2103 p.S701 0.047 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 121 0 0 57 34 37.3626 P2RX5 0 genome.wustl.edu 37 17 3593419 3593419 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3593419 3593419 C A SNP P2RX5 ENST00000435558 human ensembl 74_37 -1 known missense c.559 p.D187Y 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 393 0 0 165 72 30.3797 P2RX5 0 genome.wustl.edu 37 17 3595070 3595070 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3595070 3595070 C A SNP P2RX5 ENST00000435558 human ensembl 74_37 -1 known missense c.156 p.K52N 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 255 0 0 113 56 33.1361 GPR179 0 genome.wustl.edu 37 17 36484565 36484565 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 36484565 36484565 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.4887 p.I1629 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 236 0 0 90 55 37.931 GPR179 0 genome.wustl.edu 37 17 36485203 36485203 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 36485203 36485203 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known nonsense c.4249 p.E1417* 0.992 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 174 0 0 80 41 33.8843 FBXO47 0 genome.wustl.edu 37 17 37101317 37101317 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 37101317 37101317 C T SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known missense c.689 p.R230Q 0.997 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 121 0 0 61 32 34.4086 LRRC37A11P 0 genome.wustl.edu 37 17 37209287 37209287 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 37209287 37209287 C A SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.674 - - - no_errors LRRC37A11P HGNC ENSG00000214553 15 0 0 11 7 38.8889 C17orf85 0 genome.wustl.edu 37 17 3721585 3721585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3721585 3721585 C T SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known missense c.1282 p.E428K 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 114 0 0 58 25 30.1205 C17orf85 0 genome.wustl.edu 37 17 3724565 3724565 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3724565 3724565 C T SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known silent c.978 p.T326 0.964 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 92 0 0 39 19 32.7586 FBXL20 0 genome.wustl.edu 37 17 37455249 37455249 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 37455249 37455249 G T SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known missense c.323 p.A108E 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 126 0 0 67 40 37.3832 MED1 0 genome.wustl.edu 37 17 37565245 37565245 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 37565245 37565245 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.3229 p.P1077S 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 188 0 0 88 34 27.8689 CDK12 0 genome.wustl.edu 37 17 37650863 37650863 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 37650863 37650863 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2335 p.R779C 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 CDK12 HGNC ENSG00000167258 44 0 0 28 6 17.6471 GSDMB 0 genome.wustl.edu 37 17 38068679 38068679 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 38068679 38068679 C A SNP GSDMB ENST00000360317 human ensembl 74_37 -1 known nonsense c.307 p.E103* 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMB HGNC ENSG00000073605 94 0 0 55 22 28.5714 THRA 0 genome.wustl.edu 37 17 38249572 38249572 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 38249572 38249572 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known silent c.1410 p.P470 0.997 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 43 0 0 27 12 30.7692 CCR7 0 genome.wustl.edu 37 17 38711747 38711747 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 38711747 38711747 A C SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known missense c.384 p.F128L 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 83 0 0 40 6 13.0435 KRT25 0 genome.wustl.edu 37 17 38907471 38907471 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 38907471 38907471 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known silent c.777 p.Y259 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 95 0 0 54 27 33.3333 KRT26 0 genome.wustl.edu 37 17 38926007 38926007 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 38926007 38926007 A G SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known missense c.968 p.V323A 0.142 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 140 0 0 73 36 33.0275 KRT27 0 genome.wustl.edu 37 17 38938569 38938569 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 38938569 38938569 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.177 p.G59 0.085 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 104 0 0 54 37 40.6593 ZZEF1 0 genome.wustl.edu 37 17 3922983 3922983 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 3922983 3922983 G T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.7485 p.F2495L 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 138 0 0 62 37 37.3737 KRTAP9-3 0 genome.wustl.edu 37 17 39389162 39389162 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 39389162 39389162 A C SNP KRTAP9-3 ENST00000411528 human ensembl 74_37 +1 known missense c.409 p.T137P 0.278 NULL NULL - no_errors KRTAP9-3 HGNC ENSG00000204873 267 0 0 168 83 33.0677 KRT37 0 genome.wustl.edu 37 17 39580043 39580043 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 39580043 39580043 C T SNP KRT37 ENST00000225550 human ensembl 74_37 -1 known silent c.546 p.A182 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 91 0 0 44 26 37.1429 KRT35 0 genome.wustl.edu 37 17 39633950 39633950 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 39633950 39633950 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.1040 p.R347H 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 86 0 0 37 16 30.1887 KRT35 0 genome.wustl.edu 37 17 39634617 39634617 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 39634617 39634617 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.995 p.S332N 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 71 0 0 34 10 22.7273 KRT13 0 genome.wustl.edu 37 17 39661466 39661466 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 39661466 39661466 C T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.337 p.D113N 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 178 0 0 81 34 29.5652 ACLY 0 genome.wustl.edu 37 17 40065299 40065299 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40065299 40065299 C T SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.559 p.G187S 1.000 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 37 0 0 12 14 53.8462 RAB5C 0 genome.wustl.edu 37 17 40278791 40278791 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40278791 40278791 C T SNP RAB5C ENST00000346213 human ensembl 74_37 -1 known missense c.517 p.E173K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5C HGNC ENSG00000108774 178 0 0 89 41 31.5385 KCNH4 0 genome.wustl.edu 37 17 40330965 40330965 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40330965 40330965 G T SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.156 p.L52 1.000 pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 93 0 0 38 21 35.5932 HCRT 0 genome.wustl.edu 37 17 40336439 40336439 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40336439 40336439 C A SNP HCRT ENST00000293330 human ensembl 74_37 -1 known missense c.129 p.K43N 1.000 pfam_Orexin,pirsf_Orexin,prints_Orexin pfam_Orexin,pirsf_Orexin,prints_Orexin - no_errors HCRT HGNC ENSG00000161610 24 0 0 10 10 50 STAT5B 0 genome.wustl.edu 37 17 40354820 40354820 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40354820 40354820 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.2084 p.A695V 0.999 smart_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 213 0 0 82 54 39.7059 STAT5A 0 genome.wustl.edu 37 17 40456604 40456604 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40456604 40456604 G T SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1314 p.E438D 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 121 0 0 52 27 34.1772 ANKFY1 0 genome.wustl.edu 37 17 4071204 4071204 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4071204 4071204 G A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.3505 p.R1169C 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 63 0 0 43 25 36.7647 CNTNAP1 0 genome.wustl.edu 37 17 40839829 40839829 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 40839829 40839829 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1136 p.R379H 0.994 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 177 1 0.561798 83 45 35.1562 ANKFY1 0 genome.wustl.edu 37 17 4085508 4085508 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4085508 4085508 C T SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.2215 p.A739T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 203 1 0.490196 106 54 33.75 BRCA1 0 genome.wustl.edu 37 17 41244869 41244869 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 41244869 41244869 C A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.2679 p.K893N 0.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 136 0 0 75 50 40 MEOX1 0 genome.wustl.edu 37 17 41720906 41720906 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 41720906 41720906 G A SNP MEOX1 ENST00000318579 human ensembl 74_37 -1 known missense c.592 p.R198W 0.981 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 30 0 0 13 5 27.7778 CD300LG 0 genome.wustl.edu 37 17 41925966 41925966 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 41925966 41925966 C T SNP CD300LG ENST00000317310 human ensembl 74_37 +1 known silent c.84 p.F28 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LG HGNC ENSG00000161649 157 0 0 70 41 36.9369 ITGA2B 0 genome.wustl.edu 37 17 42452077 42452077 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42452077 42452077 A G SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.2893 p.S965P 0.974 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 116 0 0 38 15 28.3019 FZD2 0 genome.wustl.edu 37 17 42635315 42635315 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42635315 42635315 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.259 p.E87K 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 158 0 0 86 50 36.7647 C17orf104 0 genome.wustl.edu 37 17 42745389 42745389 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42745389 42745389 T G SNP C17orf104 ENST00000409122 human ensembl 74_37 +1 known missense c.2110 p.L704V 0.997 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 39 0 0 25 13 34.2105 ADAM11 0 genome.wustl.edu 37 17 42850282 42850282 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42850282 42850282 A G SNP ADAM11 ENST00000200557 human ensembl 74_37 +1 known missense c.736 p.I246V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 83 0 0 42 27 39.1304 GJC1 0 genome.wustl.edu 37 17 42882006 42882006 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42882006 42882006 C T SNP GJC1 ENST00000330514 human ensembl 74_37 -1 known missense c.1180 p.V394I 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC ENSG00000182963 197 1 0.505051 102 52 33.7662 HIGD1B 0 genome.wustl.edu 37 17 42926632 42926632 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42926632 42926632 C T SNP HIGD1B ENST00000253410 human ensembl 74_37 +1 known silent c.111 p.G37 1.000 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD1B HGNC ENSG00000131097 104 0 0 39 33 45.8333 GFAP 0 genome.wustl.edu 37 17 42992513 42992513 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 42992513 42992513 G A SNP GFAP ENST00000253408 human ensembl 74_37 -1 known silent c.342 p.D114 0.395 pfam_IF pfam_IF - no_errors GFAP HGNC ENSG00000131095 122 0 0 51 33 39.2857 KIF18B 0 genome.wustl.edu 37 17 43012671 43012671 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 43012671 43012671 G A SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.427 p.R143C 0.084 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 58 0 0 29 14 32.5581 SPATA32 0 genome.wustl.edu 37 17 43332645 43332645 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 43332645 43332645 C T SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.904 p.E302K 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 283 0 0 116 77 39.8964 SPNS3 0 genome.wustl.edu 37 17 4337402 4337402 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4337402 4337402 C T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.140 p.A47V 0.952 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 160 0 0 59 32 35.1648 CRHR1 0 genome.wustl.edu 37 17 43907879 43907879 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 43907879 43907879 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.739 p.V247M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 221 1 0.45045 109 53 32.716 EFCAB13 0 genome.wustl.edu 37 17 45455139 45455139 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 45455139 45455139 C A SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known missense c.1380 p.F460L 0.004 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 30 0 0 14 23 62.1622 MRPL45P2 0 genome.wustl.edu 37 17 45560427 45560427 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 45560427 45560427 T C SNP MRPL45P2 ENST00000425159 human ensembl 74_37 -1 known rna NULL NULL 0.599 - - - no_errors MRPL45P2 HGNC ENSG00000228782 107 0 0 94 38 28.7879 KPNB1 0 genome.wustl.edu 37 17 45734311 45734311 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 45734311 45734311 T C SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.368 p.V123A 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 75 0 0 40 19 32.2034 PELP1 0 genome.wustl.edu 37 17 4578449 4578449 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4578449 4578449 C T SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.1631 p.R544H 1.000 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 58 0 0 18 13 41.9355 TBX21 0 genome.wustl.edu 37 17 45822165 45822165 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 45822165 45822165 T C SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known silent c.1041 p.C347 0.687 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 205 0 0 98 62 38.75 CDK5RAP3 0 genome.wustl.edu 37 17 46058857 46058857 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 46058857 46058857 A G SNP CDK5RAP3 ENST00000338399 human ensembl 74_37 +1 known missense c.1510 p.T504A 0.939 NULL pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 140 1 0.70922 60 34 36.1702 CXCL16 0 genome.wustl.edu 37 17 4638447 4638447 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4638447 4638447 C T SNP CXCL16 ENST00000293778 human ensembl 74_37 -1 known missense c.715 p.A239T 0.003 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 73 0 0 29 11 27.5 IGF2BP1 0 genome.wustl.edu 37 17 47123723 47123723 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47123723 47123723 C A SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.1629 p.F543L 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 66 0 0 27 28 50.9091 B4GALNT2 0 genome.wustl.edu 37 17 47243530 47243530 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47243530 47243530 C A SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known missense c.1189 p.L397I 1.000 pfam_Glyco_trans_2,pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 105 0 0 69 27 28.125 ZNF652 0 genome.wustl.edu 37 17 47388809 47388809 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47388809 47388809 C T SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known missense c.1174 p.E392K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 273 0 0 145 71 32.8704 SLC35B1 0 genome.wustl.edu 37 17 47785121 47785121 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47785121 47785121 A C SNP SLC35B1 ENST00000415270 human ensembl 74_37 -1 known nonsense c.186 p.Y62* 1.000 pfam_UAA pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom - no_errors SLC35B1 HGNC ENSG00000121073 34 0 0 26 7 21.2121 KAT7 0 genome.wustl.edu 37 17 47874139 47874139 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47874139 47874139 C A SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known missense c.191 p.S64Y 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 163 1 0.609756 103 55 34.8101 KAT7 0 genome.wustl.edu 37 17 47893237 47893237 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47893237 47893237 C A SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known missense c.925 p.L309I 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 96 0 0 48 33 40.7407 DLX3 0 genome.wustl.edu 37 17 48070831 48070831 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 48070831 48070831 T G SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.449 p.K150T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 30 0 0 19 8 29.6296 GP1BA 0 genome.wustl.edu 37 17 4836037 4836037 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4836037 4836037 G A SNP GP1BA ENST00000329125 human ensembl 74_37 +1 known silent c.138 p.P46 0.001 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 264 0 0 134 68 33.6634 SLC25A11 0 genome.wustl.edu 37 17 4841845 4841845 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4841845 4841845 G A SNP SLC25A11 ENST00000225665 human ensembl 74_37 -1 known nonsense c.508 p.R170* 0.687 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A11 HGNC ENSG00000108528 231 0 0 121 64 34.5946 ACSF2 0 genome.wustl.edu 37 17 48538054 48538054 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 48538054 48538054 C T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.145 p.R49C 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 44 0 0 20 10 33.3333 ACSF2 0 genome.wustl.edu 37 17 48551589 48551589 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 48551589 48551589 C T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known silent c.1758 p.I586 0.997 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 215 0 0 156 21 11.8644 ANKRD40 0 genome.wustl.edu 37 17 48773432 48773432 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 48773432 48773432 G A SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known silent c.1033 p.L345 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 128 0 0 65 42 39.2523 KIF1C 0 genome.wustl.edu 37 17 4927223 4927223 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 4927223 4927223 G A SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.3089 p.R1030H 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 89 0 0 39 21 35 MBTD1 0 genome.wustl.edu 37 17 49280149 49280149 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 49280149 49280149 T C SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known missense c.976 p.T326A 0.996 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 265 0 0 130 91 41.1765 ZNF594 0 genome.wustl.edu 37 17 5085969 5085969 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 5085969 5085969 C T SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known missense c.1583 p.R528H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 240 0 0 112 49 30.4348 ZNF594 0 genome.wustl.edu 37 17 5086896 5086896 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 5086896 5086896 G A SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known missense c.656 p.A219V 0.671 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 226 1 0.440529 109 44 28.7582 TMEM100 0 genome.wustl.edu 37 17 53798220 53798220 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 53798220 53798220 A G SNP TMEM100 ENST00000424486 human ensembl 74_37 -1 known missense c.212 p.V71A 1.000 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 141 0 0 111 39 26 NLRP1 0 genome.wustl.edu 37 17 5434015 5434015 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 5434015 5434015 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.3306 p.F1102 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 85 0 0 44 15 25.4237 NLRP1 0 genome.wustl.edu 37 17 5442742 5442742 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 5442742 5442742 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.2863 p.R955C 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 80 0 0 38 19 33.3333 COIL 0 genome.wustl.edu 37 17 55038341 55038341 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 55038341 55038341 C A SNP COIL ENST00000240316 human ensembl 74_37 -1 known missense c.40 p.D14Y 1.000 NULL NULL - no_errors COIL HGNC ENSG00000121058 54 0 0 49 12 19.6721 DYNLL2 0 genome.wustl.edu 37 17 56166549 56166549 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56166549 56166549 G A SNP DYNLL2 ENST00000579991 human ensembl 74_37 +1 known missense c.179 p.R60Q 1.000 pfam_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2 - no_errors DYNLL2 HGNC ENSG00000264364 137 0 0 79 40 33.6134 OR4D1 0 genome.wustl.edu 37 17 56232801 56232801 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56232801 56232801 G A SNP OR4D1 ENST00000268912 human ensembl 74_37 +1 known missense c.287 p.G96D 0.823 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 OR4D1 HGNC ENSG00000141194 170 0 0 86 54 38.5714 OR4D2 0 genome.wustl.edu 37 17 56247046 56247046 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56247046 56247046 A C SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known silent c.30 p.S10 0.838 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 189 0 0 123 53 30.1136 MPO 0 genome.wustl.edu 37 17 56348199 56348199 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56348199 56348199 A G SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.2152 p.F718L 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 96 0 0 46 7 13.2075 MTMR4 0 genome.wustl.edu 37 17 56586131 56586131 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56586131 56586131 G A SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.365 p.A122V 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 70 0 0 36 26 41.9355 SEPT4 0 genome.wustl.edu 37 17 56598158 56598158 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56598158 56598158 G A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known silent c.1368 p.V456 1.000 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 257 1 0.387597 135 62 31.4721 C17orf47 0 genome.wustl.edu 37 17 56620179 56620179 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 56620179 56620179 G A SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known missense c.1369 p.L457F 0.080 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 314 0 0 162 61 27.3543 PPM1E 0 genome.wustl.edu 37 17 57043102 57043102 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57043102 57043102 G A SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.631 p.E211K 1.000 superfamily_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 364 0 0 194 125 39.185 SMG8 0 genome.wustl.edu 37 17 57288596 57288596 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57288596 57288596 A G SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1184 p.D395G 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 162 0 0 68 39 36.4486 SMG8 0 genome.wustl.edu 37 17 57288693 57288693 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57288693 57288693 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.1281 p.F427 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 121 0 0 60 29 32.5843 GDPD1 0 genome.wustl.edu 37 17 57344492 57344492 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57344492 57344492 C T SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known nonsense c.667 p.R223* 0.998 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 108 0 0 54 44 44.898 CLTC 0 genome.wustl.edu 37 17 57760277 57760277 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57760277 57760277 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.3775 p.A1259T 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 73 0 0 63 33 34.375 PTRH2 0 genome.wustl.edu 37 17 57775206 57775206 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57775206 57775206 G A SNP PTRH2 ENST00000393038 human ensembl 74_37 -1 known missense c.134 p.T45M 0.000 NULL pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom,tigrfam_PTH2 - no_errors PTRH2 HGNC ENSG00000141378 105 0 0 57 29 33.7209 TUBD1 0 genome.wustl.edu 37 17 57955475 57955475 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 57955475 57955475 C T SNP TUBD1 ENST00000325752 human ensembl 74_37 -1 known missense c.758 p.R253Q 1.000 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 105 0 0 47 24 33.8028 LOC101927755 0 genome.wustl.edu 37 17 58073290 58073290 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 58073290 58073290 A C SNP LOC101927755 ENST00000586209 human ensembl 74_37 +1 known rna NULL NULL 0.973 - - - no_errors RP11-178C3.2 Clone_based_vega_gene ENSG00000267302 43 0 0 28 10 26.3158 HEATR6 0 genome.wustl.edu 37 17 58143671 58143671 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 58143671 58143671 G T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.1315 p.L439I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 48 0 0 41 25 37.8788 USP32 0 genome.wustl.edu 37 17 58258686 58258686 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 58258686 58258686 G A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.4547 p.S1516L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 100 0 0 62 33 34.7368 USP32 0 genome.wustl.edu 37 17 58260766 58260766 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 58260766 58260766 A G SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.3883 p.S1295P 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 95 0 0 68 27 28.4211 USP32 0 genome.wustl.edu 37 17 58346875 58346875 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 58346875 58346875 A C SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.747 p.D249E 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 64 0 0 40 21 34.4262 PPM1D 0 genome.wustl.edu 37 17 58740750 58740750 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 58740750 58740750 G A SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known missense c.1655 p.R552Q 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 128 0 0 71 33 31.7308 ENSG00000267207 0 genome.wustl.edu 37 17 59147389 59147389 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 59147389 59147389 G A SNP ENSG00000267207 ENST00000588604 human ensembl 74_37 -1 known rna NULL NULL 0.973 - - - no_errors RP11-264B14.1 Clone_based_vega_gene ENSG00000267207 163 0 0 84 38 31.1475 TBX2 0 genome.wustl.edu 37 17 59479294 59479294 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 59479294 59479294 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel silent c.645 p.I215 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 97 0 0 42 23 35.3846 C17orf82 0 genome.wustl.edu 37 17 59489455 59489455 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 59489455 59489455 T C SNP C17orf82 ENST00000335108 human ensembl 74_37 +1 known missense c.119 p.V40A 0.001 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 45 0 0 27 12 30.7692 BRIP1 0 genome.wustl.edu 37 17 59763410 59763410 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 59763410 59763410 C T SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.2692 p.D898N 0.000 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 188 0 0 122 58 32.2222 INTS2 0 genome.wustl.edu 37 17 59945352 59945352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 59945352 59945352 C T SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.3287 p.R1096Q 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 52 0 0 28 11 28.2051 MED13 0 genome.wustl.edu 37 17 60038340 60038340 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 60038340 60038340 G T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.5368 p.L1790I 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 57 0 0 52 27 34.1772 MED13 0 genome.wustl.edu 37 17 60042387 60042387 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 60042387 60042387 C T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.4824 p.P1608 0.996 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 53 0 0 37 14 27.451 MRC2 0 genome.wustl.edu 37 17 60741967 60741967 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 60741967 60741967 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.177 p.G59 0.660 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 179 0 0 83 35 29.661 TANC2 0 genome.wustl.edu 37 17 61278268 61278268 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 61278268 61278268 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.497 p.A166V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 165 0 0 104 45 30.2013 TANC2 0 genome.wustl.edu 37 17 61466084 61466084 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 61466084 61466084 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.2558 p.A853V 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 18 0 0 8 6 42.8571 TACO1 0 genome.wustl.edu 37 17 61684818 61684818 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 61684818 61684818 T G SNP TACO1 ENST00000258975 human ensembl 74_37 +1 known silent c.687 p.V229 0.491 pfam_Transcrip_reg_TACO1-like pfam_Transcrip_reg_TACO1-like - no_errors TACO1 HGNC ENSG00000136463 82 0 0 56 18 24.3243 FTSJ3 0 genome.wustl.edu 37 17 61902505 61902505 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 61902505 61902505 T G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.614 p.K205T 1.000 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 93 0 0 54 25 31.6456 LRRC37A3 0 genome.wustl.edu 37 17 62892249 62892249 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 62892249 62892249 G T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.1127 p.S376Y 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 531 0 0 333 95 22.1963 RGS9 0 genome.wustl.edu 37 17 63206625 63206625 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 63206625 63206625 C T SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1309 p.R437W 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 211 1 0.471698 94 44 31.8841 CEP112 0 genome.wustl.edu 37 17 63685267 63685267 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 63685267 63685267 C A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known nonsense c.2677 p.E893* 0.771 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 65 0 0 40 27 40.2985 PITPNM3 0 genome.wustl.edu 37 17 6387538 6387538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 6387538 6387538 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.349 p.E117K 0.992 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 192 0 0 104 58 35.8025 APOH 0 genome.wustl.edu 37 17 64210746 64210746 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 64210746 64210746 T G SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.807 p.K269N 0.998 pfam_Sushi_2,superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 135 0 0 74 49 39.8374 PRKCA 0 genome.wustl.edu 37 17 64641554 64641554 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 64641554 64641554 G A SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known missense c.454 p.G152R 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 102 0 0 48 40 45.4545 CACNG5 0 genome.wustl.edu 37 17 64881136 64881136 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 64881136 64881136 C T SNP CACNG5 ENST00000307139 human ensembl 74_37 +1 known missense c.607 p.R203W 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 75 0 0 60 21 25.9259 HELZ 0 genome.wustl.edu 37 17 65132142 65132142 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 65132142 65132142 T G SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.3126 p.Q1042H 0.998 superfamily_P-loop_NTPase pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 61 0 0 28 22 44 KIAA0753 0 genome.wustl.edu 37 17 6531586 6531586 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 6531586 6531586 G A SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.569 p.S190L 0.097 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 154 0 0 93 38 29.0076 BPTF 0 genome.wustl.edu 37 17 65899998 65899998 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 65899998 65899998 G A SNP BPTF ENST00000321892 human ensembl 74_37 +1 known silent c.3015 p.A1005 0.341 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 49 0 0 46 22 32.3529 BPTF 0 genome.wustl.edu 37 17 65908574 65908574 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 65908574 65908574 G T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.4952 p.S1651I 0.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 136 0 0 64 38 37.2549 KPNA2 0 genome.wustl.edu 37 17 66033597 66033597 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 66033597 66033597 A C SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.199 p.N67H 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 125 0 0 74 36 32.7273 KPNA2 0 genome.wustl.edu 37 17 66038403 66038403 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 66038403 66038403 T C SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.505 p.S169P 0.093 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 554 0 0 326 164 33.4694 AMZ2 0 genome.wustl.edu 37 17 66251928 66251928 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 66251928 66251928 G T SNP AMZ2 ENST00000359904 human ensembl 74_37 +1 known nonsense c.838 p.E280* 1.000 pfam_Pept_M54_archaemetzincn pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 108 0 0 62 27 30.3371 SLC16A6 0 genome.wustl.edu 37 17 66267060 66267060 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 66267060 66267060 C T SNP SLC16A6 ENST00000327268 human ensembl 74_37 -1 known missense c.1241 p.G414D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 131 0 0 86 26 23.2143 XAF1 0 genome.wustl.edu 37 17 6661423 6661423 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 6661423 6661423 C T SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known silent c.48 p.V16 0.945 superfamily_TRAF-like superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 252 0 0 124 59 32.2404 ABCA8 0 genome.wustl.edu 37 17 66913584 66913584 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 66913584 66913584 C A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.2056 p.V686L 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 165 0 0 96 54 36 ABCA8 0 genome.wustl.edu 37 17 66925729 66925729 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 66925729 66925729 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.912 p.S304 0.024 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 77 0 0 43 31 41.8919 ABCA9 0 genome.wustl.edu 37 17 67016572 67016572 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67016572 67016572 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.2557 p.R853C 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 141 0 0 55 84 60.4317 ABCA6 0 genome.wustl.edu 37 17 67083602 67083602 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67083602 67083602 T G SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.3711 p.Q1237H 0.470 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 242 0 0 209 27 11.4407 ABCA6 0 genome.wustl.edu 37 17 67084326 67084326 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67084326 67084326 C T SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.3680 p.R1227Q 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 36 0 0 36 8 18.1818 ABCA6 0 genome.wustl.edu 37 17 67101676 67101676 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67101676 67101676 G A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known silent c.2667 p.N889 0.007 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 42 0 0 29 14 32.5581 ABCA6 0 genome.wustl.edu 37 17 67103843 67103843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67103843 67103843 C T SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.2383 p.E795K 0.002 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 67 0 0 41 23 35.9375 ABCA6 0 genome.wustl.edu 37 17 67119483 67119483 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67119483 67119483 T G SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known silent c.1333 p.R445 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 59 0 0 28 10 26.3158 ABCA6 0 genome.wustl.edu 37 17 67130778 67130778 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67130778 67130778 A G SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known splice_site c.564+2 e4+2 1.000 - - - no_errors ABCA6 HGNC ENSG00000154262 82 0 0 40 30 42.8571 ABCA10 0 genome.wustl.edu 37 17 67187325 67187325 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67187325 67187325 T G SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.2003 p.K668T 0.574 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 44 0 0 26 7 21.2121 ABCA5 0 genome.wustl.edu 37 17 67246653 67246653 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67246653 67246653 C A SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known nonsense c.4648 p.E1550* 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 52 0 0 32 15 31.9149 ABCA5 0 genome.wustl.edu 37 17 67305533 67305533 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 67305533 67305533 T G SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.339 p.K113N 0.798 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 90 0 0 57 31 35.2273 NXN 0 genome.wustl.edu 37 17 708413 708413 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 708413 708413 C T SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.895 p.D299N 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 34 0 0 13 10 43.4783 COG1 0 genome.wustl.edu 37 17 71197534 71197534 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 71197534 71197534 C A SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.1568 p.S523Y 0.969 NULL NULL - no_errors COG1 HGNC ENSG00000166685 268 0 0 123 52 29.7143 C17orf80 0 genome.wustl.edu 37 17 71232871 71232871 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 71232871 71232871 C T SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known missense c.1250 p.S417F 0.001 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 81 0 0 48 31 39.2405 GPRC5C 0 genome.wustl.edu 37 17 72436249 72436249 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 72436249 72436249 G A SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.469 p.D157N 0.610 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 215 0 0 81 52 39.0977 CD300LB 0 genome.wustl.edu 37 17 72521955 72521955 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 72521955 72521955 A G SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known missense c.413 p.V138A 0.004 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 308 0 0 128 60 31.9149 C17orf77 0 genome.wustl.edu 37 17 72588512 72588512 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 72588512 72588512 G A SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known silent c.327 p.K109 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 162 0 0 88 47 34.8148 RAB37 0 genome.wustl.edu 37 17 72737009 72737009 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 72737009 72737009 G T SNP RAB37 ENST00000392614 human ensembl 74_37 +1 known missense c.211 p.D71Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC ENSG00000172794 158 0 0 71 36 33.6449 OTOP3 0 genome.wustl.edu 37 17 72939782 72939782 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 72939782 72939782 C T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known silent c.768 p.I256 0.990 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 59 0 0 35 20 36.3636 HID1 0 genome.wustl.edu 37 17 72947703 72947703 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 72947703 72947703 C T SNP HID1 ENST00000425042 human ensembl 74_37 -1 known missense c.2329 p.D777N 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 29 0 0 10 7 41.1765 ACOX1 0 genome.wustl.edu 37 17 73951988 73951988 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 73951988 73951988 G A SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known silent c.579 p.L193 0.917 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 242 0 0 136 73 34.9282 EXOC7 0 genome.wustl.edu 37 17 74090528 74090528 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 74090528 74090528 C A SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.775 p.D259Y 0.999 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 95 0 0 69 32 31.6832 POLR2A 0 genome.wustl.edu 37 17 7414556 7414556 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7414556 7414556 T C SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.3836 p.M1279T 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_7 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 68 0 0 52 11 17.4603 POLR2A 0 genome.wustl.edu 37 17 7415517 7415517 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7415517 7415517 A G SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.4346 p.D1449G 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 86 0 0 36 13 26.5306 MFSD11 0 genome.wustl.edu 37 17 74772498 74772498 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 74772498 74772498 G A SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known missense c.1060 p.A354T 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 149 0 0 94 45 32.3741 EIF4A1 0 genome.wustl.edu 37 17 7480012 7480012 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7480012 7480012 T C SNP EIF4A1 ENST00000293831 human ensembl 74_37 +1 known splice_site c.514+2 e5+2 1.000 - - - no_errors EIF4A1 HGNC ENSG00000161960 132 0 0 66 38 36.5385 ATP1B2 0 genome.wustl.edu 37 17 7557412 7557412 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7557412 7557412 G A SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known missense c.389 p.R130H 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 365 0 0 184 90 32.8467 WRAP53 0 genome.wustl.edu 37 17 7604072 7604072 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7604072 7604072 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.656 p.R219Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 259 0 0 130 56 30.1075 SYNGR2 0 genome.wustl.edu 37 17 76167232 76167232 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 76167232 76167232 A C SNP SYNGR2 ENST00000592456 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SYNGR2 HGNC ENSG00000108639 39 0 0 16 10 38.4615 DNAH17 0 genome.wustl.edu 37 17 76471877 76471877 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 76471877 76471877 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.8151 p.I2717 0.989 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 66 0 0 31 12 27.907 DNAH17 0 genome.wustl.edu 37 17 76548826 76548826 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 76548826 76548826 T C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.2240 p.D747G 0.783 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 232 0 0 154 67 30.3167 DNAH17 0 genome.wustl.edu 37 17 76554208 76554208 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 76554208 76554208 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.2160 p.I720 0.924 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 38 0 0 16 7 30.4348 DNAH2 0 genome.wustl.edu 37 17 7660464 7660464 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7660464 7660464 A G SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1960 p.T654A 0.991 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 415 0 0 215 93 30.1948 DNAH2 0 genome.wustl.edu 37 17 7662770 7662770 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7662770 7662770 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.2479 p.R827W 0.699 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 131 0 0 54 30 35.7143 USP36 0 genome.wustl.edu 37 17 76832327 76832327 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 76832327 76832327 A G SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.119 p.I40T 0.998 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 78 0 0 39 11 22 TBC1D16 0 genome.wustl.edu 37 17 77922709 77922709 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 77922709 77922709 G T SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.1503 p.F501L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 187 0 0 78 46 37.0968 CHD3 0 genome.wustl.edu 37 17 7809005 7809005 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7809005 7809005 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4205 p.R1402Q 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 48 0 0 35 14 28.5714 CARD14 0 genome.wustl.edu 37 17 78162210 78162210 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 78162210 78162210 A G SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.710 p.N237S 0.001 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 53 0 0 26 10 27.7778 RNF213 0 genome.wustl.edu 37 17 78321073 78321073 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 78321073 78321073 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.8938 p.A2980S 0.908 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 56 0 0 30 10 25 RNF213 0 genome.wustl.edu 37 17 78354771 78354771 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 78354771 78354771 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.13781 p.A4594V 0.981 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 365 1 0.273224 199 96 32.5424 RNF213 0 genome.wustl.edu 37 17 78360622 78360622 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 78360622 78360622 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.14853 p.F4951 0.980 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 92 0 0 26 10 27.7778 RPTOR 0 genome.wustl.edu 37 17 78796935 78796935 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 78796935 78796935 T G SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.1048 p.F350V 1.000 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 182 0 0 127 10 7.29927 AATK 0 genome.wustl.edu 37 17 79095489 79095489 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 79095489 79095489 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.2247 p.C749 0.006 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 12 0 0 8 4 33.3333 AATK 0 genome.wustl.edu 37 17 79096523 79096523 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 79096523 79096523 C T SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.1213 p.E405K 0.996 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 16 0 0 6 3 33.3333 ALOX15B 0 genome.wustl.edu 37 17 7950271 7950271 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7950271 7950271 A G SNP ALOX15B ENST00000380183 human ensembl 74_37 +1 known missense c.1334 p.N445S 0.891 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 141 0 0 56 31 35.6322 TSPAN10 0 genome.wustl.edu 37 17 79615131 79615131 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 79615131 79615131 C T SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known missense c.875 p.A292V 0.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 12 0 0 9 4 30.7692 OXLD1 0 genome.wustl.edu 37 17 79632445 79632445 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 79632445 79632445 T G SNP OXLD1 ENST00000374741 human ensembl 74_37 -1 known missense c.230 p.K77T 0.541 NULL pfam_Oxidoreductase-like_N - no_errors OXLD1 HGNC ENSG00000204237 100 0 0 45 22 32.8358 ALOX12B 0 genome.wustl.edu 37 17 7980465 7980465 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 7980465 7980465 T C SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1118 p.D373G 0.995 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 52 0 0 17 11 39.2857 SIRT7 0 genome.wustl.edu 37 17 79873485 79873485 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 79873485 79873485 A G SNP SIRT7 ENST00000328666 human ensembl 74_37 -1 known splice_site c.407+2 e4+2 1.000 - - - no_errors SIRT7 HGNC ENSG00000187531 66 0 0 21 12 36.3636 NOTUM 0 genome.wustl.edu 37 17 79911050 79911050 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 79911050 79911050 C A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known missense c.1278 p.K426N 0.682 NULL pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 51 0 0 26 9 25.7143 ALOXE3 0 genome.wustl.edu 37 17 8021304 8021304 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8021304 8021304 G A SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.401 p.A134V 0.294 superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 28 0 0 13 5 27.7778 HES7 0 genome.wustl.edu 37 17 8026394 8026394 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8026394 8026394 G C SNP HES7 ENST00000541682 human ensembl 74_37 -1 known missense c.93 p.S31R 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HES7 HGNC ENSG00000179111 17 0 0 12 5 29.4118 NARF 0 genome.wustl.edu 37 17 80443437 80443437 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 80443437 80443437 G A SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.1036 p.A346T 0.967 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 175 0 0 89 52 36.8794 PER1 0 genome.wustl.edu 37 17 8053326 8053326 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8053326 8053326 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known silent c.492 p.T164 0.281 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 382 0 0 227 25 9.92063 ZNF750 0 genome.wustl.edu 37 17 80790171 80790171 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 80790171 80790171 T C SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known missense c.160 p.T54A 1.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 144 0 0 70 35 33.3333 TBCD 0 genome.wustl.edu 37 17 80863821 80863821 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 80863821 80863821 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1814 p.R605K 0.000 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 27 0 0 10 4 28.5714 CTC1 0 genome.wustl.edu 37 17 8139580 8139580 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8139580 8139580 G A SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.873 p.I291 0.013 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 83 0 0 50 15 23.0769 MYH10 0 genome.wustl.edu 37 17 8409702 8409702 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8409702 8409702 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.3290 p.A1097V 0.998 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 126 0 0 58 29 33.3333 CCDC42 0 genome.wustl.edu 37 17 8644901 8644901 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8644901 8644901 C T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.383 p.R128H 1.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 158 0 0 65 44 40.367 SPDYE4 0 genome.wustl.edu 37 17 8660742 8660742 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8660742 8660742 C T SNP SPDYE4 ENST00000328794 human ensembl 74_37 -1 known missense c.178 p.E60K 0.001 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE4 HGNC ENSG00000183318 17 0 0 13 5 27.7778 MFSD6L 0 genome.wustl.edu 37 17 8701241 8701241 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 8701241 8701241 C T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.1198 p.E400K 0.995 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 147 0 0 66 51 43.5897 NTN1 0 genome.wustl.edu 37 17 9066163 9066163 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 9066163 9066163 G A SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.1052 p.R351H 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 231 0 0 89 42 32.0611 STX8 0 genome.wustl.edu 37 17 9471774 9471774 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 9471774 9471774 C T SNP STX8 ENST00000306357 human ensembl 74_37 -1 known missense c.31 p.D11N 1.000 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 36 0 0 21 15 41.6667 WDR16 0 genome.wustl.edu 37 17 9536289 9536289 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 9536289 9536289 T C SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.1289 p.V430A 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,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 96 0 0 81 27 25 GAS7 0 genome.wustl.edu 37 17 9830036 9830036 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 9830036 9830036 C A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.936 p.K312N 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 130 0 0 71 25 26.0417 APCDD1 0 genome.wustl.edu 37 18 10488027 10488027 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 10488027 10488027 C T SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known missense c.1537 p.R513C 0.971 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 112 0 0 39 32 45.0704 PIEZO2 0 genome.wustl.edu 37 18 10671566 10671566 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 10671566 10671566 T C SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known silent c.2088 p.S696 0.339 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 57 0 0 38 19 33.3333 SPIRE1 0 genome.wustl.edu 37 18 12479831 12479831 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 12479831 12479831 G T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known nonsense c.1271 p.S424* 0.001 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 101 0 0 70 27 27.8351 PTPN2 0 genome.wustl.edu 37 18 12817275 12817275 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 12817275 12817275 G T SNP PTPN2 ENST00000309660 human ensembl 74_37 -1 known missense c.585 p.F195L 1.000 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,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 - no_errors PTPN2 HGNC ENSG00000175354 88 0 0 73 47 39.1667 RNMT 0 genome.wustl.edu 37 18 13734563 13734563 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 13734563 13734563 G T SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.518 p.R173I 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 65 0 0 51 25 32.8947 CXADRP3 0 genome.wustl.edu 37 18 14478905 14478905 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 14478905 14478905 T G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 45 0 0 31 18 36.7347 POTEC 0 genome.wustl.edu 37 18 14511935 14511935 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 14511935 14511935 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.1591 p.E531K 0.770 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 71 0 0 57 25 30.4878 POTEC 0 genome.wustl.edu 37 18 14534909 14534909 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 14534909 14534909 C A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.908 p.R303I 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 63 0 0 75 9 10.7143 POTEC 0 genome.wustl.edu 37 18 14534929 14534929 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 14534929 14534929 A C SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.888 p.A296 0.001 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 88 0 0 95 13 12.037 LOC644669 0 genome.wustl.edu 37 18 15316643 15316643 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 15316643 15316643 C A SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.139 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 8 0 0 9 3 25 ROCK1 0 genome.wustl.edu 37 18 18622574 18622574 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 18622574 18622574 C A SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known nonsense c.772 p.E258* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 146 0 0 81 47 36.7188 ROCK1 0 genome.wustl.edu 37 18 18629740 18629740 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 18629740 18629740 C T SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known splice_site c.276+1 e3+1 1.000 - - - no_errors ROCK1 HGNC ENSG00000067900 46 0 0 46 21 31.3433 ESCO1 0 genome.wustl.edu 37 18 19144267 19144267 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 19144267 19144267 C T SNP ESCO1 ENST00000269214 human ensembl 74_37 -1 known missense c.1718 p.R573Q 0.997 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 28 0 0 18 8 30.7692 ESCO1 0 genome.wustl.edu 37 18 19153793 19153793 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 19153793 19153793 C T SNP ESCO1 ENST00000269214 human ensembl 74_37 -1 known missense c.1012 p.E338K 0.306 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 114 0 0 109 32 22.695 ABHD3 0 genome.wustl.edu 37 18 19284546 19284546 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 19284546 19284546 G T SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known missense c.81 p.F27L 0.993 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 12 0 0 11 4 26.6667 MIB1 0 genome.wustl.edu 37 18 19371466 19371466 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 19371466 19371466 G A SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known missense c.1040 p.R347Q 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 132 0 0 83 46 35.6589 CTAGE1 0 genome.wustl.edu 37 18 19996468 19996468 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 19996468 19996468 G A SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known missense c.1307 p.A436V 0.517 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 94 0 0 80 34 29.8246 ENSG00000266495 0 genome.wustl.edu 37 18 20837178 20837178 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 20837178 20837178 C A SNP ENSG00000266495 ENST00000585184 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors RP11-17J14.2 Clone_based_vega_gene ENSG00000266495 77 0 0 44 20 31.25 C18orf8 0 genome.wustl.edu 37 18 21095901 21095901 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 21095901 21095901 G A SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.490 p.A164T 0.022 superfamily_WD40_repeat_dom pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 213 0 0 98 48 32.8767 LAMA3 0 genome.wustl.edu 37 18 21404477 21404477 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 21404477 21404477 C A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known nonsense c.2519 p.S840* 0.956 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 102 0 0 87 35 28.6885 LAMA3 0 genome.wustl.edu 37 18 21461926 21461926 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 21461926 21461926 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.5139 p.E1713D 0.003 pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 42 0 0 18 8 30.7692 ZNF521 0 genome.wustl.edu 37 18 22805217 22805217 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 22805217 22805217 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2665 p.D889N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 119 0 0 56 36 39.1304 TAF4B 0 genome.wustl.edu 37 18 23895348 23895348 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 23895348 23895348 G T SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.1988 p.R663I 1.000 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 42 0 0 35 21 37.5 CHST9 0 genome.wustl.edu 37 18 24722665 24722665 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 24722665 24722665 C T SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.109 p.E37K 1.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 82 0 0 51 27 34.6154 NDC80 0 genome.wustl.edu 37 18 2577854 2577854 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 2577854 2577854 C T SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known nonsense c.289 p.R97* 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 106 0 0 73 41 35.9649 NDC80 0 genome.wustl.edu 37 18 2577969 2577969 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 2577969 2577969 T G SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known missense c.305 p.F102C 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 82 0 0 77 33 30 SMCHD1 0 genome.wustl.edu 37 18 2667021 2667021 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 2667021 2667021 A C SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.415 p.N139H 1.000 superfamily_HATPase_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 16 0 0 8 9 52.9412 SMCHD1 0 genome.wustl.edu 37 18 2771569 2771569 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 2771569 2771569 C T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known nonsense c.5005 p.R1669* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 64 0 0 51 25 32.8947 DSC2 0 genome.wustl.edu 37 18 28669436 28669436 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 28669436 28669436 C T SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.596 p.R199H 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 86 0 0 63 39 38.2353 EMILIN2 0 genome.wustl.edu 37 18 2891625 2891625 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 2891625 2891625 T C SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known silent c.1500 p.R500 0.019 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 152 1 0.653595 79 39 33.0508 DSG1 0 genome.wustl.edu 37 18 28925982 28925982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 28925982 28925982 G A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.1921 p.E641K 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 62 0 0 35 26 42.623 DSG4 0 genome.wustl.edu 37 18 28971169 28971169 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 28971169 28971169 A C SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.813 p.K271N 0.979 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 96 0 0 58 27 31.7647 DSG2 0 genome.wustl.edu 37 18 29122786 29122786 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 29122786 29122786 G A SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.2305 p.E769K 0.994 prints_Desmoglein pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 96 0 0 52 25 32.4675 SLC25A52 0 genome.wustl.edu 37 18 29340392 29340392 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 29340392 29340392 C T SNP SLC25A52 ENST00000269205 human ensembl 74_37 -1 known missense c.263 p.R88Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 184 0 0 97 43 30.7143 ENSG00000263606 0 genome.wustl.edu 37 18 2945859 2945859 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 2945859 2945859 A G SNP ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 82 0 0 50 16 24.2424 RNF138 0 genome.wustl.edu 37 18 29693732 29693732 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 29693732 29693732 C A SNP RNF138 ENST00000261593 human ensembl 74_37 +1 known missense c.301 p.H101N 1.000 NULL pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF138 HGNC ENSG00000134758 50 0 0 42 16 27.5862 WBP11P1 0 genome.wustl.edu 37 18 30093140 30093140 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 30093140 30093140 G A SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors WBP11P1 HGNC ENSG00000260389 13 0 0 4 3 42.8571 CCDC178 0 genome.wustl.edu 37 18 30554590 30554590 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 30554590 30554590 A G SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2516 p.V839A 1.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 69 0 0 56 21 27.2727 CCDC178 0 genome.wustl.edu 37 18 30803113 30803113 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 30803113 30803113 C T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1889 p.R630Q 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 31 0 0 40 9 18.3673 ASXL3 0 genome.wustl.edu 37 18 31323516 31323516 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 31323516 31323516 C A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3704 p.S1235Y 0.994 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 75 0 0 43 25 36.7647 NOL4 0 genome.wustl.edu 37 18 31599432 31599432 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 31599432 31599432 C T SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known silent c.906 p.Q302 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 108 0 0 69 21 23.3333 DTNA 0 genome.wustl.edu 37 18 32431887 32431887 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 32431887 32431887 G T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.1449 p.K483N 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 62 0 0 35 11 23.913 ZSCAN30 0 genome.wustl.edu 37 18 32833515 32833515 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 32833515 32833515 T G SNP ZSCAN30 ENST00000333206 human ensembl 74_37 -1 known missense c.1384 p.I462L 0.984 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN30 HGNC ENSG00000186814 91 0 0 62 29 31.8681 ZNF397 0 genome.wustl.edu 37 18 32837896 32837896 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 32837896 32837896 T C SNP ZNF397 ENST00000261333 human ensembl 74_37 +1 known silent c.822 p.F274 0.075 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 186 0 0 93 61 39.6104 SLC39A6 0 genome.wustl.edu 37 18 33689577 33689577 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 33689577 33689577 G A SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known silent c.2247 p.I749 1.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 98 0 0 62 44 41.5094 SLC39A6 0 genome.wustl.edu 37 18 33706546 33706546 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 33706546 33706546 C T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.425 p.R142Q 0.294 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 101 1 0.980392 66 19 22.3529 ELP2 0 genome.wustl.edu 37 18 33726217 33726217 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 33726217 33726217 G A SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known missense c.998 p.R333Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 251 0 0 146 84 36.5217 MOCOS 0 genome.wustl.edu 37 18 33840070 33840070 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 33840070 33840070 A C SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.2341 p.I781L 0.018 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 235 0 0 137 72 34.4498 TPGS2 0 genome.wustl.edu 37 18 34376819 34376819 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 34376819 34376819 A C SNP TPGS2 ENST00000334295 human ensembl 74_37 -1 known silent c.852 p.T284 0.001 NULL smart_SMI1/KNR4_like_dom - no_errors TPGS2 HGNC ENSG00000134779 124 0 0 60 30 33.3333 COLEC12 0 genome.wustl.edu 37 18 346509 346509 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 346509 346509 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known silent c.1113 p.C371 1.000 NULL 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 101 0 0 54 25 31.6456 COLEC12 0 genome.wustl.edu 37 18 347104 347104 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 347104 347104 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.518 p.A173V 0.999 NULL 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 239 0 0 93 51 35.4167 COLEC12 0 genome.wustl.edu 37 18 348100 348100 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 348100 348100 T G SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.245 p.K82T 1.000 NULL 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 79 0 0 46 15 24.5902 CELF4 0 genome.wustl.edu 37 18 34854414 34854414 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 34854414 34854414 C A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.661 p.A221S 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 157 0 0 74 39 34.5133 PIK3C3 0 genome.wustl.edu 37 18 39537548 39537548 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 39537548 39537548 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.82 p.G28R 1.000 smart_PI3K_C2_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 80 0 0 39 21 35 PIK3C3 0 genome.wustl.edu 37 18 39593453 39593453 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 39593453 39593453 A C SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1218 p.E406D 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 109 0 0 88 49 35.7664 SETBP1 0 genome.wustl.edu 37 18 42532601 42532601 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 42532601 42532601 C A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3296 p.S1099Y 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 111 0 0 51 23 31.0811 EPG5 0 genome.wustl.edu 37 18 43459029 43459029 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 43459029 43459029 C A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.5818 p.D1940Y 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 112 0 0 66 34 34 EPG5 0 genome.wustl.edu 37 18 43502362 43502362 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 43502362 43502362 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.3043 p.A1015T 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 79 0 0 50 19 27.5362 EPG5 0 genome.wustl.edu 37 18 43519684 43519684 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 43519684 43519684 A G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.1981 p.Y661H 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 65 0 0 29 18 38.2979 TCEB3B 0 genome.wustl.edu 37 18 44561339 44561339 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 44561339 44561339 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.297 p.F99 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 109 0 0 48 25 34.2466 HDHD2 0 genome.wustl.edu 37 18 44662730 44662730 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 44662730 44662730 G A SNP HDHD2 ENST00000300605 human ensembl 74_37 -1 known silent c.81 p.G27 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors HDHD2 HGNC ENSG00000167220 104 0 0 39 23 37.0968 SKOR2 0 genome.wustl.edu 37 18 44775126 44775126 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 44775126 44775126 G A SNP SKOR2 ENST00000400404 human ensembl 74_37 -1 known silent c.429 p.F143 1.000 superfamily_SAND_dom-like pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR2 HGNC ENSG00000215474 8 0 0 5 4 44.4444 RPL17 0 genome.wustl.edu 37 18 47014895 47014895 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 47014895 47014895 C T SNP RPL17 ENST00000418495 human ensembl 74_37 -1 known silent c.549 p.R183 1.000 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc - no_errors RPL17 HGNC ENSG00000265681 40 0 0 21 6 22.2222 MAPK4 0 genome.wustl.edu 37 18 48241532 48241532 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 48241532 48241532 C T SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known silent c.630 p.I210 0.103 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 104 0 0 41 20 32.7869 POLI 0 genome.wustl.edu 37 18 51820532 51820532 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 51820532 51820532 G T SNP POLI ENST00000579534 human ensembl 74_37 +1 known nonsense c.1918 p.E640* 1.000 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 49 0 0 11 15 57.6923 STARD6 0 genome.wustl.edu 37 18 51851142 51851142 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 51851142 51851142 A C SNP STARD6 ENST00000307844 human ensembl 74_37 -1 known missense c.583 p.F195V 0.204 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD6 HGNC ENSG00000174448 70 0 0 27 40 59.7015 C18orf54 0 genome.wustl.edu 37 18 51886948 51886948 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 51886948 51886948 G A SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known silent c.6 p.A2 0.970 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 108 1 0.917431 30 37 55.2239 EPB41L3 0 genome.wustl.edu 37 18 5415967 5415967 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 5415967 5415967 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.1917 p.I639 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 117 0 0 65 24 26.9663 NARS 0 genome.wustl.edu 37 18 55282941 55282941 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 55282941 55282941 C T SNP NARS ENST00000256854 human ensembl 74_37 -1 known missense c.274 p.E92K 1.000 superfamily_NA-bd_OB-fold pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS HGNC ENSG00000134440 122 0 0 41 30 42.2535 ATP8B1 0 genome.wustl.edu 37 18 55336558 55336558 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 55336558 55336558 C A SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.2089 p.D697Y 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 62 0 0 28 17 37.7778 ALPK2 0 genome.wustl.edu 37 18 56203437 56203437 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 56203437 56203437 G T SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.3982 p.L1328I 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 128 0 0 69 9 11.5385 ALPK2 0 genome.wustl.edu 37 18 56204821 56204821 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 56204821 56204821 T C SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known silent c.2598 p.T866 0.001 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 70 0 0 23 21 47.7273 ENSG00000267257 0 genome.wustl.edu 37 18 56205533 56205533 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 56205533 56205533 G T SNP ENSG00000267257 ENST00000591360 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1151B14.4 Clone_based_vega_gene ENSG00000267257 43 0 0 10 9 47.3684 LMAN1 0 genome.wustl.edu 37 18 57013239 57013239 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 57013239 57013239 A C SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known nonsense c.867 p.Y289* 0.977 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 102 0 0 25 36 59.0164 TMEM200C 0 genome.wustl.edu 37 18 5890224 5890224 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 5890224 5890224 T G SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.1839 p.E613D 0.914 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 150 0 0 65 42 39.2523 KIAA1468 0 genome.wustl.edu 37 18 59895681 59895681 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 59895681 59895681 A G SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.1298 p.N433S 0.013 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 115 0 0 42 30 41.6667 KDSR 0 genome.wustl.edu 37 18 61022741 61022741 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 61022741 61022741 A G SNP KDSR ENST00000406396 human ensembl 74_37 -1 known missense c.311 p.V104A 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors KDSR HGNC ENSG00000119537 44 0 0 24 11 31.4286 VPS4B 0 genome.wustl.edu 37 18 61060766 61060766 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 61060766 61060766 C T SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known missense c.1109 p.R370Q 0.031 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 101 0 0 15 30 66.6667 SERPINB13 0 genome.wustl.edu 37 18 61261591 61261591 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 61261591 61261591 A C SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known missense c.475 p.K159Q 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 62 0 0 18 14 43.75 SERPINB2 0 genome.wustl.edu 37 18 61558832 61558832 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 61558832 61558832 G T SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.154 p.D52Y 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 48 0 0 11 18 62.069 SERPINB2 0 genome.wustl.edu 37 18 61570322 61570322 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 61570322 61570322 C T SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.1031 p.S344L 0.854 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 112 0 0 30 28 48.2759 SERPINB10 0 genome.wustl.edu 37 18 61582874 61582874 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 61582874 61582874 T G SNP SERPINB10 ENST00000238508 human ensembl 74_37 +1 known missense c.130 p.L44V 0.975 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 86 0 0 27 31 53.4483 CDH7 0 genome.wustl.edu 37 18 63430218 63430218 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 63430218 63430218 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.140 p.R47H 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 76 0 0 33 5 13.1579 CDH19 0 genome.wustl.edu 37 18 64176344 64176344 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 64176344 64176344 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known silent c.1716 p.D572 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 CDH19 HGNC ENSG00000071991 177 1 0.561798 54 64 54.2373 RPL6P27 0 genome.wustl.edu 37 18 6462299 6462299 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6462299 6462299 T G SNP RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL6P27 HGNC ENSG00000235552 57 0 0 45 19 29.6875 DSEL 0 genome.wustl.edu 37 18 65179358 65179358 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 65179358 65179358 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2518 p.K840E 0.994 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 263 1 0.378788 74 85 53.4591 DSEL 0 genome.wustl.edu 37 18 65181050 65181050 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 65181050 65181050 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.826 p.N276D 0.999 superfamily_Chondroitin_lyas pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 155 0 0 36 43 54.4304 ENOSF1 0 genome.wustl.edu 37 18 674310 674310 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 674310 674310 T G SNP ENOSF1 ENST00000340116 human ensembl 74_37 -1 known missense c.1348 p.N450H 0.979 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 332 0 0 209 104 33.2268 SOCS6 0 genome.wustl.edu 37 18 67993118 67993118 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 67993118 67993118 C A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known missense c.1214 p.S405Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 121 0 0 29 40 57.971 ARHGAP28 0 genome.wustl.edu 37 18 6837248 6837248 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6837248 6837248 C T SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known silent c.378 p.I126 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 21 0 0 11 9 45 ARHGAP28 0 genome.wustl.edu 37 18 6889954 6889954 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6889954 6889954 T G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1604 p.I535S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 146 0 0 146 14 8.75 LAMA1 0 genome.wustl.edu 37 18 6943388 6943388 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6943388 6943388 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8858 p.V2953A 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 133 0 0 60 40 40 LAMA1 0 genome.wustl.edu 37 18 6956679 6956679 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6956679 6956679 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8050 p.D2684N 0.000 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 102 0 0 59 29 32.9545 LOC101927188 0 genome.wustl.edu 37 18 6956796 6956796 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6956796 6956796 T C SNP LOC101927188 ENST00000584722 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-781P6.1 Clone_based_vega_gene ENSG00000265069 47 0 0 17 13 43.3333 LAMA1 0 genome.wustl.edu 37 18 6959410 6959410 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6959410 6959410 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7708 p.L2570I 0.189 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 153 0 0 83 43 34.127 LAMA1 0 genome.wustl.edu 37 18 6976071 6976071 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6976071 6976071 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.6354 p.V2118 0.009 pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 114 0 0 117 20 14.5985 LAMA1 0 genome.wustl.edu 37 18 6986227 6986227 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6986227 6986227 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.5288 p.A1763V 0.004 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 215 0 0 116 69 37.2973 LAMA1 0 genome.wustl.edu 37 18 6986331 6986331 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 6986331 6986331 T C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.5184 p.L1728 0.004 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 92 0 0 65 22 25.2874 CNDP1 0 genome.wustl.edu 37 18 72229308 72229308 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 72229308 72229308 G A SNP CNDP1 ENST00000358821 human ensembl 74_37 +1 known missense c.493 p.D165N 1.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 108 0 0 34 30 46.875 ZNF236 0 genome.wustl.edu 37 18 74627729 74627729 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 74627729 74627729 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.3182 p.R1061Q 0.938 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 99 0 0 22 17 43.5897 SALL3 0 genome.wustl.edu 37 18 76753496 76753496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 76753496 76753496 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1505 p.S502L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 33 0 0 10 13 56.5217 SALL3 0 genome.wustl.edu 37 18 76754848 76754848 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 76754848 76754848 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2857 p.R953C 0.595 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 14 0 0 6 9 60 NFATC1 0 genome.wustl.edu 37 18 77211696 77211696 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 77211696 77211696 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.1783 p.L595 0.999 superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 64 0 0 16 12 42.8571 NFATC1 0 genome.wustl.edu 37 18 77246279 77246279 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 77246279 77246279 T G SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2124 p.D708E 0.967 superfamily_Ig_E-set pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 337 0 0 78 79 50.3185 CTDP1 0 genome.wustl.edu 37 18 77456022 77456022 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 77456022 77456022 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.444 p.A148 0.465 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 74 0 0 15 11 42.3077 KCNG2 0 genome.wustl.edu 37 18 77623869 77623869 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 77623869 77623869 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.202 p.E68K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 24 0 0 10 4 28.5714 PTPRM 0 genome.wustl.edu 37 18 7888319 7888319 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 7888319 7888319 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.412 p.R138C 0.122 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 112 0 0 69 30 30.303 PTPRM 0 genome.wustl.edu 37 18 8085834 8085834 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 8085834 8085834 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.1717 p.P573S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 117 0 0 71 31 30.3922 PTPRM 0 genome.wustl.edu 37 18 8387085 8387085 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 8387085 8387085 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.4063 p.R1355W 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 152 0 0 79 38 32.4786 RAB12 0 genome.wustl.edu 37 18 8638257 8638257 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 8638257 8638257 T C SNP RAB12 ENST00000329286 human ensembl 74_37 +1 known silent c.732 p.C244 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB12 HGNC ENSG00000206418 49 0 0 27 11 28.9474 ADCYAP1 0 genome.wustl.edu 37 18 909593 909593 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 909593 909593 A C SNP ADCYAP1 ENST00000450565 human ensembl 74_37 +1 known missense c.488 p.K163T 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors ADCYAP1 HGNC ENSG00000141433 253 0 0 170 75 30.6122 ANKRD12 0 genome.wustl.edu 37 18 9255539 9255539 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 9255539 9255539 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.2274 p.S758 0.943 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 38 0 0 41 21 33.871 ANKRD12 0 genome.wustl.edu 37 18 9255701 9255701 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 9255701 9255701 A C SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.2436 p.E812D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 67 0 0 46 28 37.8378 COL5A3 0 genome.wustl.edu 37 19 10071116 10071116 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10071116 10071116 C A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known nonsense c.5209 p.E1737* 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 123 0 0 59 25 29.7619 RDH8 0 genome.wustl.edu 37 19 10127761 10127761 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10127761 10127761 G T SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.192 p.K64N 0.997 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 43 0 0 18 7 28 DNMT1 0 genome.wustl.edu 37 19 10259675 10259675 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10259675 10259675 A G SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.2605 p.S869P 0.003 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 84 0 0 37 20 35.0877 DNMT1 0 genome.wustl.edu 37 19 10267136 10267136 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10267136 10267136 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.1330 p.E444K 0.999 pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 107 0 0 66 25 27.4725 PDE4A 0 genome.wustl.edu 37 19 10528390 10528390 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10528390 10528390 C T SNP PDE4A ENST00000380702 human ensembl 74_37 +1 known missense c.103 p.R35C 0.968 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 20 0 0 9 7 43.75 ABCA7 0 genome.wustl.edu 37 19 1053340 1053340 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 1053340 1053340 T G SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3233 p.L1078R 0.991 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 49 0 0 14 10 41.6667 PDE4A 0 genome.wustl.edu 37 19 10561292 10561292 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10561292 10561292 G A SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.634 p.G212S 0.871 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 30 0 0 10 6 37.5 KEAP1 0 genome.wustl.edu 37 19 10610561 10610561 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10610561 10610561 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.149 p.R50H 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 247 0 0 104 67 39.1813 DNM2 0 genome.wustl.edu 37 19 10886518 10886518 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10886518 10886518 G A SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known silent c.525 p.T175 0.066 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 185 0 0 96 50 34.2466 DNM2 0 genome.wustl.edu 37 19 10908128 10908128 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 10908128 10908128 G A SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known silent c.1269 p.P423 0.124 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 103 0 0 47 21 30.8824 DOCK6 0 genome.wustl.edu 37 19 11352862 11352862 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11352862 11352862 G T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.1502 p.S501Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 17 0 0 10 6 37.5 RGL3 0 genome.wustl.edu 37 19 11516087 11516087 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11516087 11516087 G A SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1012 p.R338W 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 22 0 0 13 4 23.5294 ZNF627 0 genome.wustl.edu 37 19 11728369 11728369 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11728369 11728369 C T SNP ZNF627 ENST00000361113 human ensembl 74_37 +1 known nonsense c.1051 p.R351* 0.044 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 ZNF627 HGNC ENSG00000198551 90 0 0 47 23 32.8571 ZNF627 0 genome.wustl.edu 37 19 11728453 11728453 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11728453 11728453 C T SNP ZNF627 ENST00000361113 human ensembl 74_37 +1 known nonsense c.1135 p.R379* 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 ZNF627 HGNC ENSG00000198551 88 0 0 54 25 31.6456 ZNF833P 0 genome.wustl.edu 37 19 11796214 11796214 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11796214 11796214 G T SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF833P HGNC ENSG00000197332 65 0 0 41 27 39.7059 ZNF833P 0 genome.wustl.edu 37 19 11796286 11796286 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11796286 11796286 G A SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF833P HGNC ENSG00000197332 48 0 0 20 16 44.4444 ZNF823 0 genome.wustl.edu 37 19 11832652 11832652 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11832652 11832652 C T SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known missense c.1697 p.R566H 0.001 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 ZNF823 HGNC ENSG00000197933 107 0 0 67 38 36.1905 ZNF441 0 genome.wustl.edu 37 19 11891955 11891955 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11891955 11891955 G T SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1316 p.R439I 0.475 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 ZNF441 HGNC ENSG00000197044 67 0 0 43 26 37.6812 ZNF441 0 genome.wustl.edu 37 19 11891986 11891986 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11891986 11891986 T C SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known silent c.1347 p.C449 0.967 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 ZNF441 HGNC ENSG00000197044 71 0 0 59 28 32.1839 ZNF441 0 genome.wustl.edu 37 19 11892539 11892539 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11892539 11892539 G A SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1900 p.E634K 0.009 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 ZNF441 HGNC ENSG00000197044 68 0 0 47 23 32.8571 ZNF491 0 genome.wustl.edu 37 19 11916972 11916972 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11916972 11916972 G A SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known silent c.204 p.Q68 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 67 0 0 62 31 33.3333 ZNF491 0 genome.wustl.edu 37 19 11917544 11917544 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11917544 11917544 G A SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known missense c.776 p.R259Q 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 93 0 0 66 29 30.5263 ZNF440 0 genome.wustl.edu 37 19 11942676 11942676 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11942676 11942676 G A SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.685 p.E229K 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 ZNF440 HGNC ENSG00000171295 145 0 0 73 40 35.3982 ZNF439 0 genome.wustl.edu 37 19 11978700 11978700 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 11978700 11978700 T C SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known silent c.816 p.C272 0.518 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 ZNF439 HGNC ENSG00000171291 129 0 0 71 35 33.0189 ZNF69 0 genome.wustl.edu 37 19 12016269 12016269 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12016269 12016269 A C SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1057 p.M353L 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 ZNF69 HGNC ENSG00000198429 144 0 0 90 46 33.8235 ZNF700 0 genome.wustl.edu 37 19 12060493 12060493 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12060493 12060493 C T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known nonsense c.1654 p.R552* 0.033 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 ZNF700 HGNC ENSG00000196757 113 0 0 68 37 35.2381 ZNF433 0 genome.wustl.edu 37 19 12125892 12125892 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12125892 12125892 T G SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known missense c.1790 p.K597T 0.984 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 ZNF433 HGNC ENSG00000197647 136 0 0 71 39 35.4545 ZNF878 0 genome.wustl.edu 37 19 12155208 12155208 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12155208 12155208 C A SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.1149 p.E383D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 89 0 0 68 28 29.1667 ZNF878 0 genome.wustl.edu 37 19 12155494 12155494 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12155494 12155494 G A SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.863 p.S288L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 115 0 0 64 39 37.8641 ZNF878 0 genome.wustl.edu 37 19 12155980 12155980 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12155980 12155980 T G SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.377 p.Q126P 0.000 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 ZNF878 HGNC ENSG00000257446 34 0 0 16 6 27.2727 ZNF844 0 genome.wustl.edu 37 19 12187077 12187077 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12187077 12187077 A G SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1142 p.D381G 0.098 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 32 0 0 12 5 29.4118 ZNF20 0 genome.wustl.edu 37 19 12243483 12243483 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12243483 12243483 A C SNP ZNF20 ENST00000334213 human ensembl 74_37 -1 known nonsense c.1518 p.Y506* 0.061 smart_Znf_C2H2-like,pfscan_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 ZNF20 HGNC ENSG00000132010 278 0 0 199 28 12.3348 ZNF625 0 genome.wustl.edu 37 19 12256532 12256532 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12256532 12256532 G A SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known silent c.699 p.S233 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 HGNC ENSG00000257591 183 0 0 80 41 33.8843 ZNF44 0 genome.wustl.edu 37 19 12361094 12361094 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12361094 12361094 G A SNP ZNF44 ENST00000426973 human ensembl 74_37 -1 known silent c.123 p.D41 0.997 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 ZNF44 HGNC ENSG00000197857 54 0 0 26 16 38.0952 ZNF44 0 genome.wustl.edu 37 19 12384420 12384420 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12384420 12384420 C A SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.794 p.R265I 0.002 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 ZNF44 HGNC ENSG00000197857 183 0 0 121 54 30.8571 ZNF799 0 genome.wustl.edu 37 19 12502322 12502322 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12502322 12502322 C T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.890 p.R297Q 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 ZNF799 HGNC ENSG00000196466 237 0 0 122 67 35.4497 ZNF709 0 genome.wustl.edu 37 19 12575681 12575681 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12575681 12575681 C T SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known missense c.1055 p.R352Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 162 0 0 110 56 33.7349 ZNF564 0 genome.wustl.edu 37 19 12637684 12637684 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12637684 12637684 C A SNP ZNF564 ENST00000339282 human ensembl 74_37 -1 known missense c.1238 p.R413I 0.853 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 ZNF564 HGNC ENSG00000249709 252 0 0 147 78 34.6667 ZNF490 0 genome.wustl.edu 37 19 12691588 12691588 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12691588 12691588 C T SNP ZNF490 ENST00000311437 human ensembl 74_37 -1 known missense c.1301 p.R434Q 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 ZNF490 HGNC ENSG00000188033 170 0 0 84 47 35.8779 ZNF490 0 genome.wustl.edu 37 19 12692305 12692305 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 12692305 12692305 T G SNP ZNF490 ENST00000311437 human ensembl 74_37 -1 known missense c.584 p.K195T 0.005 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 ZNF490 HGNC ENSG00000188033 159 0 0 87 43 33.0769 RAD23A 0 genome.wustl.edu 37 19 13060204 13060204 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13060204 13060204 G T SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.795 p.E265D 0.997 pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,prints_Rad23,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 173 0 0 63 24 27.5862 TRMT1 0 genome.wustl.edu 37 19 13221113 13221113 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13221113 13221113 C A SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.878 p.R293I 0.999 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 25 0 0 12 6 33.3333 CACNA1A 0 genome.wustl.edu 37 19 13372361 13372361 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13372361 13372361 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.4153 p.L1385 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 16 0 0 5 11 68.75 CACNA1A 0 genome.wustl.edu 37 19 13373570 13373570 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13373570 13373570 A G SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.4067 p.I1356T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 23 0 0 20 8 28.5714 CACNA1A 0 genome.wustl.edu 37 19 13409910 13409910 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13409910 13409910 T C SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.2537 p.D846G 0.979 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 24 0 0 20 14 41.1765 CACNA1A 0 genome.wustl.edu 37 19 13470614 13470614 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13470614 13470614 C A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known splice_site c.785-1 e6-1 1.000 - - - no_errors CACNA1A HGNC ENSG00000141837 10 0 0 0 4 100 ZSWIM4 0 genome.wustl.edu 37 19 13928150 13928150 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 13928150 13928150 C A SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.1301 p.T434K 0.391 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 152 0 0 60 31 34.0659 LPHN1 0 genome.wustl.edu 37 19 14267940 14267940 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 14267940 14267940 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.2778 p.F926 0.993 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 65 0 0 37 15 28.8462 APC2 0 genome.wustl.edu 37 19 1453554 1453554 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 1453554 1453554 C A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.357 p.S119R 0.001 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 47 0 0 16 8 33.3333 APC2 0 genome.wustl.edu 37 19 1466116 1466116 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 1466116 1466116 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.2816 p.R939H 0.100 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 25 0 0 7 6 46.1538 EMR3 0 genome.wustl.edu 37 19 14765862 14765862 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 14765862 14765862 G A SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.509 p.S170L 0.005 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 131 0 0 79 33 29.4643 ZNF333 0 genome.wustl.edu 37 19 14829800 14829800 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 14829800 14829800 G A SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.1661 p.R554Q 0.989 pfam_Znf_C2H2,smart_Znf_BED_prd,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 98 0 0 44 29 39.726 OR7A10 0 genome.wustl.edu 37 19 14951778 14951778 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 14951778 14951778 G T SNP OR7A10 ENST00000248058 human ensembl 74_37 -1 known missense c.912 p.F304L 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A10 HGNC ENSG00000127515 105 0 0 51 15 22.7273 SLC1A6 0 genome.wustl.edu 37 19 15063790 15063790 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15063790 15063790 G A SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known silent c.1449 p.V483 0.978 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 171 0 0 91 55 37.6712 SLC1A6 0 genome.wustl.edu 37 19 15083562 15083562 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15083562 15083562 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 59 0 0 27 13 32.5 CCDC105 0 genome.wustl.edu 37 19 15132651 15132651 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15132651 15132651 G T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known nonsense c.1171 p.E391* 0.961 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 105 0 0 70 30 30 CASP14 0 genome.wustl.edu 37 19 15164409 15164409 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15164409 15164409 C T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known silent c.144 p.F48 0.971 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 158 0 0 86 47 35.3383 ILVBL 0 genome.wustl.edu 37 19 15226687 15226687 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15226687 15226687 C T SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.1588 p.E530K 1.000 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 89 0 0 65 14 17.7215 AKAP8L 0 genome.wustl.edu 37 19 15510111 15510111 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15510111 15510111 A G SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known splice_site c.1157+2 e9+2 1.000 - - - no_errors AKAP8L HGNC ENSG00000011243 70 0 0 37 10 21.2766 CYP4F22 0 genome.wustl.edu 37 19 15658949 15658949 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15658949 15658949 T G SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known silent c.1167 p.T389 0.791 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 260 0 0 173 14 7.48663 CYP4F3 0 genome.wustl.edu 37 19 15758136 15758136 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15758136 15758136 T C SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known splice_site c.525+2 e4+2 1.000 - - - no_errors CYP4F3 HGNC ENSG00000186529 198 0 0 104 43 29.2517 OR10H2 0 genome.wustl.edu 37 19 15839024 15839024 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15839024 15839024 G A SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known silent c.171 p.T57 0.392 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 OR10H2 HGNC ENSG00000171942 223 0 0 100 61 37.8882 OR10H5 0 genome.wustl.edu 37 19 15905629 15905629 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15905629 15905629 C T SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known silent c.771 p.S257 0.229 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 102 0 0 44 25 36.2319 OR10H5 0 genome.wustl.edu 37 19 15905661 15905661 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15905661 15905661 C A SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.803 p.S268Y 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 98 0 0 48 29 37.6623 CYP4F2 0 genome.wustl.edu 37 19 15990222 15990222 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 15990222 15990222 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1331 p.R444H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 246 0 0 144 68 32.0755 CYP4F11 0 genome.wustl.edu 37 19 16045053 16045053 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 16045053 16045053 T C SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.166 p.K56E 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 105 0 0 53 37 41.1111 TCF3 0 genome.wustl.edu 37 19 1615638 1615638 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 1615638 1615638 C T SNP TCF3 ENST00000395423 human ensembl 74_37 -1 novel missense c.1480 p.A494T 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 86 0 0 37 26 41.2698 RAB8A 0 genome.wustl.edu 37 19 16240385 16240385 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 16240385 16240385 G T SNP RAB8A ENST00000300935 human ensembl 74_37 +1 known missense c.502 p.D168Y 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC ENSG00000167461 288 0 0 146 72 33.0275 EPS15L1 0 genome.wustl.edu 37 19 16514555 16514555 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 16514555 16514555 C T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.1615 p.E539K 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 139 0 0 90 38 29.6875 CALR3 0 genome.wustl.edu 37 19 16601326 16601326 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 16601326 16601326 C T SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known silent c.249 p.P83 0.023 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 220 0 0 81 43 34.6774 CPAMD8 0 genome.wustl.edu 37 19 17010303 17010303 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17010303 17010303 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.4972 p.L1658F 0.995 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 62 0 0 33 9 21.4286 CPAMD8 0 genome.wustl.edu 37 19 17091335 17091335 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17091335 17091335 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.1698 p.P566 0.014 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 123 0 0 53 36 40.4494 CPAMD8 0 genome.wustl.edu 37 19 17091474 17091474 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17091474 17091474 G T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1559 p.S520Y 0.900 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 143 0 0 47 25 34.7222 CPAMD8 0 genome.wustl.edu 37 19 17119328 17119328 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17119328 17119328 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.687 p.K229 0.993 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 82 0 0 38 19 33.3333 MYO9B 0 genome.wustl.edu 37 19 17298844 17298844 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17298844 17298844 A G SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.2678 p.Y893C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 12 0 0 2 3 60 MYO9B 0 genome.wustl.edu 37 19 17308628 17308628 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17308628 17308628 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.4074 p.S1358 0.001 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 138 0 0 66 25 27.4725 FAM129C 0 genome.wustl.edu 37 19 17641676 17641676 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17641676 17641676 C T SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known silent c.261 p.S87 0.159 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 80 0 0 31 14 31.1111 FAM129C 0 genome.wustl.edu 37 19 17651357 17651357 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17651357 17651357 G A SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.1229 p.R410H 0.025 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 28 0 0 10 7 41.1765 FAM129C 0 genome.wustl.edu 37 19 17654405 17654405 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17654405 17654405 T G SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.1612 p.F538V 0.663 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 60 0 0 24 18 42.8571 JAK3 0 genome.wustl.edu 37 19 17951088 17951088 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17951088 17951088 C T SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1205 p.R402H 0.998 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 55 0 0 26 15 36.5854 JAK3 0 genome.wustl.edu 37 19 17955206 17955206 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17955206 17955206 C A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.21 p.E7D 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 44 0 0 10 4 28.5714 SLC5A5 0 genome.wustl.edu 37 19 17983487 17983487 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 17983487 17983487 T C SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known splice_site c.357+2 e1+2 1.000 - - - no_errors SLC5A5 HGNC ENSG00000105641 68 0 0 18 10 35.7143 ATP8B3 0 genome.wustl.edu 37 19 1800271 1800271 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 1800271 1800271 A G SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.1330 p.S444P 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 64 0 0 40 13 24.5283 MAST3 0 genome.wustl.edu 37 19 18239715 18239715 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 18239715 18239715 G A SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.1090 p.E364K 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 124 0 0 59 32 35.1648 MAST3 0 genome.wustl.edu 37 19 18248128 18248128 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 18248128 18248128 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.1965 p.F655 0.744 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 124 0 0 66 31 31.9588 PIK3R2 0 genome.wustl.edu 37 19 18277075 18277075 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 18277075 18277075 C T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1522 p.R508C 0.983 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 93 0 0 48 22 31.4286 SUGP2 0 genome.wustl.edu 37 19 19120788 19120788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 19120788 19120788 C T SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known silent c.2214 p.P738 0.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 249 0 0 124 51 29.1429 ZNF101 0 genome.wustl.edu 37 19 19790703 19790703 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 19790703 19790703 G T SNP ZNF101 ENST00000318110 human ensembl 74_37 +1 known missense c.905 p.R302I 0.220 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 ZNF101 HGNC ENSG00000181896 71 0 0 34 17 33.3333 ZNF506 0 genome.wustl.edu 37 19 19905446 19905446 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 19905446 19905446 T G SNP ZNF506 ENST00000443905 human ensembl 74_37 -1 known missense c.1250 p.K417T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 64 0 0 50 25 33.3333 ZNF253 0 genome.wustl.edu 37 19 20003051 20003051 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20003051 20003051 G T SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.995 p.R332I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF253 HGNC ENSG00000256771 59 0 0 36 7 16.2791 ZNF90 0 genome.wustl.edu 37 19 20229335 20229335 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20229335 20229335 C A SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known silent c.972 p.L324 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 ZNF90 HGNC ENSG00000213988 28 0 0 21 9 30 ZNF486 0 genome.wustl.edu 37 19 20308761 20308761 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20308761 20308761 G A SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known silent c.1242 p.A414 0.002 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 ZNF486 HGNC ENSG00000256229 42 0 0 26 19 42.2222 ZNF737 0 genome.wustl.edu 37 19 20727843 20727843 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20727843 20727843 C A SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.1166 p.R389I 0.996 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 ZNF737 HGNC ENSG00000237440 62 0 0 53 29 35.3659 ZNF626 0 genome.wustl.edu 37 19 20808104 20808104 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20808104 20808104 T C SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known silent c.579 p.K193 0.994 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 ZNF626 HGNC ENSG00000188171 54 0 0 40 15 27.2727 ZNF626 0 genome.wustl.edu 37 19 20828209 20828209 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20828209 20828209 T C SNP ZNF626 ENST00000291750 human ensembl 74_37 -1 known missense c.272 p.D91G 0.019 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 93 0 0 49 20 28.9855 ZNF66 0 genome.wustl.edu 37 19 20988720 20988720 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20988720 20988720 A C SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known missense c.314 p.K105T 0.894 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66 HGNC ENSG00000160229 45 0 0 33 18 35.2941 ZNF66 0 genome.wustl.edu 37 19 20989507 20989507 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 20989507 20989507 A G SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known silent c.1101 p.K367 0.662 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 ZNF66 HGNC ENSG00000160229 23 0 0 20 14 41.1765 ZNF85 0 genome.wustl.edu 37 19 21116931 21116931 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 21116931 21116931 G T SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.105 p.E35D 0.925 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 ZNF85 HGNC ENSG00000105750 217 0 0 147 59 28.6408 ZNF85 0 genome.wustl.edu 37 19 21132056 21132056 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 21132056 21132056 A G SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.736 p.I246V 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 36 0 0 38 14 26.9231 ZNF100 0 genome.wustl.edu 37 19 21910150 21910150 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 21910150 21910150 A G SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.964 p.C322R 0.975 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 ZNF100 HGNC ENSG00000197020 100 0 0 63 24 27.5862 LOC641367 0 genome.wustl.edu 37 19 21934114 21934114 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 21934114 21934114 T C SNP LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 0.384 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 50 0 0 33 17 34 ZNF43 0 genome.wustl.edu 37 19 21992154 21992154 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 21992154 21992154 G T SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.685 p.P229T 0.003 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 ZNF43 HGNC ENSG00000198521 67 0 0 40 15 27.2727 ZNF208 0 genome.wustl.edu 37 19 22155034 22155034 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22155034 22155034 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.2802 p.K934 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 37 0 0 37 13 26 ZNF208 0 genome.wustl.edu 37 19 22155446 22155446 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22155446 22155446 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2390 p.R797I 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 68 0 0 40 24 37.5 ZNF208 0 genome.wustl.edu 37 19 22155637 22155637 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22155637 22155637 G T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2199 p.F733L 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 81 0 0 76 29 27.619 ZNF208 0 genome.wustl.edu 37 19 22155698 22155698 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22155698 22155698 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2138 p.R713I 0.994 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 ZNF208 HGNC ENSG00000160321 67 0 0 53 20 27.3973 ZNF208 0 genome.wustl.edu 37 19 22156833 22156833 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22156833 22156833 G T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1003 p.H335N 0.756 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 83 0 0 46 21 31.3433 ZNF257 0 genome.wustl.edu 37 19 22270960 22270960 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22270960 22270960 T C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.408 p.C136 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 64 0 0 45 21 31.8182 ZNF257 0 genome.wustl.edu 37 19 22271240 22271240 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22271240 22271240 A C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.688 p.K230Q 0.052 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 51 0 0 42 10 19.2308 ZNF257 0 genome.wustl.edu 37 19 22271522 22271522 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22271522 22271522 G T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.970 p.A324S 0.186 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 71 0 0 70 9 11.3924 ZNF676 0 genome.wustl.edu 37 19 22363281 22363281 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22363281 22363281 C A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1238 p.R413I 0.075 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 124 0 0 84 32 27.5862 ZNF676 0 genome.wustl.edu 37 19 22364161 22364161 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22364161 22364161 T G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.358 p.N120H 0.015 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 103 0 0 77 46 37.3984 ZNF98 0 genome.wustl.edu 37 19 22575671 22575671 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22575671 22575671 T G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.366 p.L122F 0.046 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 29 0 0 19 6 24 ZNF98 0 genome.wustl.edu 37 19 22605014 22605014 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22605014 22605014 G T SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.13 p.L5I 0.185 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 191 0 0 108 56 34.1463 ZNF492 0 genome.wustl.edu 37 19 22836210 22836210 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22836210 22836210 G T SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.9 p.E3D 0.458 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 174 0 0 123 50 28.9017 ZNF99 0 genome.wustl.edu 37 19 22939805 22939805 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22939805 22939805 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.2526 p.F842L 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 ZNF99 HGNC ENSG00000213973 70 0 0 47 28 37.3333 ZNF99 0 genome.wustl.edu 37 19 22942430 22942430 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 22942430 22942430 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.344 p.S115Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 35 0 0 24 10 29.4118 ZNF730 0 genome.wustl.edu 37 19 23328082 23328082 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23328082 23328082 C T SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.236 p.S79F 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 10 0 0 8 4 33.3333 ZNF730 0 genome.wustl.edu 37 19 23329224 23329224 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23329224 23329224 G T SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1378 p.A460S 0.364 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 ZNF730 HGNC ENSG00000183850 30 0 0 24 13 35.1351 ZNF91 0 genome.wustl.edu 37 19 23541757 23541757 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23541757 23541757 T C SNP ZNF91 ENST00000593341 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors ZNF91 HGNC ENSG00000167232 12 0 0 6 3 33.3333 ZNF91 0 genome.wustl.edu 37 19 23543666 23543666 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23543666 23543666 T G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.2115 p.K705N 0.139 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 77 0 0 54 23 29.8701 ZNF91 0 genome.wustl.edu 37 19 23544521 23544521 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23544521 23544521 A T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.1260 p.N420K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 29 0 0 29 14 32.5581 ZNF91 0 genome.wustl.edu 37 19 23545151 23545151 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23545151 23545151 A G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.630 p.C210 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 ZNF91 HGNC ENSG00000167232 80 0 0 49 26 34.6667 ZNF91 0 genome.wustl.edu 37 19 23545287 23545287 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23545287 23545287 T G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.494 p.K165T 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 76 0 0 64 28 30.4348 ZNF675 0 genome.wustl.edu 37 19 23836488 23836488 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23836488 23836488 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.1247 p.R416K 0.876 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 ZNF675 HGNC ENSG00000197372 82 0 0 41 18 30.5085 ZNF681 0 genome.wustl.edu 37 19 23927763 23927763 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23927763 23927763 A C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.589 p.F197V 0.109 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 15 0 0 13 7 35 ZNF681 0 genome.wustl.edu 37 19 23927902 23927902 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 23927902 23927902 G T SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known silent c.450 p.I150 0.001 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 ZNF681 HGNC ENSG00000196172 23 0 0 18 7 28 LOC100505851 0 genome.wustl.edu 37 19 24102077 24102077 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 24102077 24102077 G T SNP LOC100505851 ENST00000596326 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors CTB-92J24.3 Clone_based_vega_gene ENSG00000269289 48 0 0 43 17 28.3333 TMPRSS9 0 genome.wustl.edu 37 19 2413960 2413960 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 2413960 2413960 C T SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.1415 p.S472L 0.016 pirsf_Pept_S1A_polyserase-1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 40 0 0 9 10 52.6316 ENSG00000253392 0 genome.wustl.edu 37 19 2915676 2915676 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 2915676 2915676 T G SNP ENSG00000253392 ENST00000520090 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC006277.2 Clone_based_vega_gene ENSG00000253392 132 0 0 59 26 30.5882 ZNF57 0 genome.wustl.edu 37 19 2916112 2916112 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 2916112 2916112 C A SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.167 p.S56Y 0.142 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 ZNF57 HGNC ENSG00000171970 90 0 0 58 26 30.9524 ZNF57 0 genome.wustl.edu 37 19 2917762 2917762 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 2917762 2917762 A G SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known silent c.1143 p.E381 0.001 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 ZNF57 HGNC ENSG00000171970 150 0 0 74 36 32.7273 ENSG00000267243 0 genome.wustl.edu 37 19 29215123 29215123 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 29215123 29215123 C A SNP ENSG00000267243 ENST00000590072 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000267243 35 0 0 22 7 24.1379 TLE6 0 genome.wustl.edu 37 19 2989114 2989114 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 2989114 2989114 G A SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known missense c.796 p.G266R 0.923 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 85 0 0 51 31 37.8049 GNA15 0 genome.wustl.edu 37 19 3155824 3155824 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 3155824 3155824 C T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known silent c.618 p.I206 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 93 0 0 50 25 33.3333 ZNF507 0 genome.wustl.edu 37 19 32873490 32873490 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 32873490 32873490 G A SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known silent c.2478 p.A826 0.915 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 233 0 0 136 60 30.6122 RGS9BP 0 genome.wustl.edu 37 19 33167820 33167820 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 33167820 33167820 C T SNP RGS9BP ENST00000334176 human ensembl 74_37 +1 known silent c.651 p.F217 1.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 21 0 0 11 5 31.25 GPATCH1 0 genome.wustl.edu 37 19 33617545 33617545 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 33617545 33617545 C A SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known missense c.2671 p.P891T 0.379 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 73 0 0 43 21 32.8125 CHST8 0 genome.wustl.edu 37 19 34180143 34180143 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 34180143 34180143 G T SNP CHST8 ENST00000604556 human ensembl 74_37 +1 putative rna NULL NULL 0.977 - - - no_errors CHST8 HGNC ENSG00000124302 135 0 0 58 21 26.5823 MFSD12 0 genome.wustl.edu 37 19 3546421 3546421 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 3546421 3546421 C A SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.1026 p.M342I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 19 0 0 10 8 44.4444 FXYD5 0 genome.wustl.edu 37 19 35648365 35648365 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 35648365 35648365 G A SNP FXYD5 ENST00000342879 human ensembl 74_37 +1 known missense c.103 p.S35T 0.000 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD5 HGNC ENSG00000089327 55 0 0 43 3 6.52174 LSR 0 genome.wustl.edu 37 19 35757270 35757270 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 35757270 35757270 G A SNP LSR ENST00000361790 human ensembl 74_37 +1 known missense c.931 p.A311T 1.000 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 200 0 0 36 94 72.3077 CD22 0 genome.wustl.edu 37 19 35832350 35832350 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 35832350 35832350 G T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known nonsense c.1612 p.E538* 0.002 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 133 0 0 25 57 69.5122 UPK1A 0 genome.wustl.edu 37 19 36168723 36168723 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36168723 36168723 G A SNP UPK1A ENST00000222275 human ensembl 74_37 +1 known missense c.658 p.E220K 0.879 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 49 0 0 29 6 17.1429 ZBTB32 0 genome.wustl.edu 37 19 36207046 36207046 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36207046 36207046 A G SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known missense c.1036 p.T346A 0.982 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 50 0 0 18 13 41.9355 PSENEN 0 genome.wustl.edu 37 19 36236861 36236861 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36236861 36236861 G T SNP PSENEN ENST00000222266 human ensembl 74_37 +1 known missense c.30 p.E10D 1.000 pfam_Gamma_Secretase_Asp_P_PEN2 pfam_Gamma_Secretase_Asp_P_PEN2 - no_errors PSENEN HGNC ENSG00000205155 124 0 0 25 67 72.8261 LIN37 0 genome.wustl.edu 37 19 36243362 36243362 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36243362 36243362 A C SNP LIN37 ENST00000301159 human ensembl 74_37 +1 known missense c.138 p.K46N 0.988 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 46 0 0 6 23 79.3103 LIN37 0 genome.wustl.edu 37 19 36245009 36245009 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36245009 36245009 G A SNP LIN37 ENST00000301159 human ensembl 74_37 +1 known missense c.536 p.R179H 1.000 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 112 0 0 23 48 67.6056 PRODH2 0 genome.wustl.edu 37 19 36304052 36304052 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36304052 36304052 G A SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known silent c.132 p.C44 0.005 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 150 0 0 34 66 66 NPHS1 0 genome.wustl.edu 37 19 36341894 36341894 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36341894 36341894 C T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.495 p.A165 0.210 pfam_CD80_C2-set 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 72 0 0 35 16 31.3725 ZFP82 0 genome.wustl.edu 37 19 36885027 36885027 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36885027 36885027 G T SNP ZFP82 ENST00000392171 human ensembl 74_37 -1 known missense c.215 p.S72Y 0.033 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 ZFP82 HGNC ENSG00000181007 59 0 0 54 6 10 ZFP82 0 genome.wustl.edu 37 19 36896524 36896524 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 36896524 36896524 C A SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known nonsense c.187 p.E63* 1.000 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 ZFP82 HGNC ENSG00000181007 98 0 0 42 16 27.5862 ZNF461 0 genome.wustl.edu 37 19 37130848 37130848 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37130848 37130848 G A SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known silent c.399 p.S133 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF461 HGNC ENSG00000197808 233 0 0 157 73 31.7391 ZNF850 0 genome.wustl.edu 37 19 37240200 37240200 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37240200 37240200 C T SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.1742 p.R581Q 0.966 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 ZNF850 HGNC ENSG00000267041 12 0 0 11 4 26.6667 ZNF790 0 genome.wustl.edu 37 19 37309846 37309846 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37309846 37309846 C T SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.1400 p.R467Q 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 ZNF790 HGNC ENSG00000197863 125 0 0 35 72 67.2897 ZNF790 0 genome.wustl.edu 37 19 37310341 37310341 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37310341 37310341 C A SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.905 p.R302I 0.963 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 ZNF790 HGNC ENSG00000197863 84 0 0 22 52 70.2703 ZNF790 0 genome.wustl.edu 37 19 37314254 37314254 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37314254 37314254 G T SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.162 p.F54L 0.142 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 ZNF790 HGNC ENSG00000197863 38 0 0 17 38 69.0909 ZNF345 0 genome.wustl.edu 37 19 37368393 37368393 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37368393 37368393 C T SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.661 p.R221W 0.194 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 119 0 0 76 27 26.2136 ZNF345 0 genome.wustl.edu 37 19 37369178 37369178 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37369178 37369178 C T SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known silent c.1446 p.C482 0.019 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 112 0 0 85 37 30.3279 ZNF829 0 genome.wustl.edu 37 19 37382420 37382420 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37382420 37382420 G A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.1516 p.R506C 0.024 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 ZNF829 HGNC ENSG00000185869 103 0 0 18 64 78.0488 ZNF829 0 genome.wustl.edu 37 19 37382971 37382971 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37382971 37382971 T G SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.965 p.E322A 0.984 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 ZNF829 HGNC ENSG00000185869 65 0 0 54 31 36.4706 ZNF829 0 genome.wustl.edu 37 19 37399357 37399357 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37399357 37399357 G A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.344 p.P115L 0.025 superfamily_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 ZNF829 HGNC ENSG00000185869 124 1 0.8 41 84 67.2 ZNF568 0 genome.wustl.edu 37 19 37440603 37440603 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37440603 37440603 A C SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.548 p.K183T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 159 0 0 42 101 70.6294 ZNF568 0 genome.wustl.edu 37 19 37441368 37441368 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37441368 37441368 G A SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1313 p.R438Q 0.015 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 ZNF568 HGNC ENSG00000198453 131 0 0 75 42 35.8974 ZNF568 0 genome.wustl.edu 37 19 37441536 37441536 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37441536 37441536 G T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1481 p.R494I 0.997 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 ZNF568 HGNC ENSG00000198453 143 0 0 28 72 72 ZNF585B 0 genome.wustl.edu 37 19 37676966 37676966 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37676966 37676966 C A SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.1473 p.E491D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585B HGNC ENSG00000245680 135 0 0 39 75 65.7895 ZNF383 0 genome.wustl.edu 37 19 37734483 37734483 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37734483 37734483 C T SNP ZNF383 ENST00000352998 human ensembl 74_37 +1 known missense c.1345 p.P449S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ENSG00000188283 136 0 0 76 38 33.3333 MATK 0 genome.wustl.edu 37 19 3779599 3779599 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 3779599 3779599 T C SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.862 p.N288D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 54 0 0 18 8 30.7692 ZNF527 0 genome.wustl.edu 37 19 37870123 37870123 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37870123 37870123 G T SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.135 p.E45D 1.000 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 ZNF527 HGNC ENSG00000189164 164 0 0 41 74 64.3478 ZNF527 0 genome.wustl.edu 37 19 37880588 37880588 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37880588 37880588 G T SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.1637 p.R546I 0.960 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 ZNF527 HGNC ENSG00000189164 95 0 0 37 66 64.0777 ZNF569 0 genome.wustl.edu 37 19 37903657 37903657 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37903657 37903657 C T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1903 p.D635N 0.127 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 ZNF569 HGNC ENSG00000196437 211 0 0 104 56 35 ZNF569 0 genome.wustl.edu 37 19 37904545 37904545 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37904545 37904545 C T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1015 p.A339T 0.238 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 ZNF569 HGNC ENSG00000196437 219 0 0 108 55 33.7423 ZNF570 0 genome.wustl.edu 37 19 37966812 37966812 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37966812 37966812 A C SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known silent c.63 p.V21 1.000 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 ZNF570 HGNC ENSG00000171827 129 0 0 93 24 20.5128 ZNF570 0 genome.wustl.edu 37 19 37975024 37975024 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 37975024 37975024 C A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.500 p.S167Y 0.980 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 179 0 0 144 79 35.426 ZNF571 0 genome.wustl.edu 37 19 38056098 38056098 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 38056098 38056098 C A SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.1232 p.R411I 0.425 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 ZNF571 HGNC ENSG00000180479 70 0 0 20 36 64.2857 ZFP30 0 genome.wustl.edu 37 19 38126696 38126696 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 38126696 38126696 T G SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.746 p.K249T 0.998 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 ZFP30 HGNC ENSG00000120784 115 0 0 62 26 29.5455 ZNF573 0 genome.wustl.edu 37 19 38229502 38229502 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 38229502 38229502 C A SNP ZNF573 ENST00000590414 human ensembl 74_37 -1 known missense c.1889 p.R630I 0.132 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 ZNF573 HGNC ENSG00000189144 254 0 0 125 65 34.2105 SIPA1L3 0 genome.wustl.edu 37 19 38610322 38610322 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 38610322 38610322 T C SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.2668 p.L890 0.103 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 180 0 0 85 55 39.2857 FAM98C 0 genome.wustl.edu 37 19 38899392 38899392 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 38899392 38899392 T C SNP FAM98C ENST00000252530 human ensembl 74_37 +1 known missense c.920 p.V307A 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 127 0 0 34 70 67.3077 RYR1 0 genome.wustl.edu 37 19 38959681 38959681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 38959681 38959681 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3457 p.D1153N 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 107 0 0 20 56 73.6842 IFNL1 0 genome.wustl.edu 37 19 39789108 39789108 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 39789108 39789108 C T SNP IFNL1 ENST00000333625 human ensembl 74_37 +1 known silent c.555 p.A185 0.079 NULL NULL - no_errors IFNL1 HGNC ENSG00000182393 256 0 0 59 107 64.4578 LRFN1 0 genome.wustl.edu 37 19 39804604 39804604 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 39804604 39804604 T C SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1373 p.Y458C 1.000 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_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 84 0 0 56 10 15.1515 PLEKHG2 0 genome.wustl.edu 37 19 39911616 39911616 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 39911616 39911616 G A SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.1427 p.R476H 0.469 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 120 0 0 55 18 24.6575 FCGBP 0 genome.wustl.edu 37 19 40370238 40370238 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40370238 40370238 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.12428 p.G4143D 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 88 0 0 66 13 16.4557 FCGBP 0 genome.wustl.edu 37 19 40392521 40392521 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40392521 40392521 G T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.7983 p.F2661L 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 169 0 0 114 18 13.6364 ZNF546 0 genome.wustl.edu 37 19 40521315 40521315 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40521315 40521315 G T SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known missense c.2138 p.R713I 1.000 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 ZNF546 HGNC ENSG00000187187 104 0 0 70 25 26.3158 ZNF780B 0 genome.wustl.edu 37 19 40540394 40540394 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40540394 40540394 C A SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.2372 p.R791I 0.029 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 ZNF780B HGNC ENSG00000128000 87 0 0 26 68 72.3404 ZNF780B 0 genome.wustl.edu 37 19 40540950 40540950 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40540950 40540950 A C SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.1816 p.F606V 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 190 0 0 106 56 34.5679 ZNF780B 0 genome.wustl.edu 37 19 40541040 40541040 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40541040 40541040 G A SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known nonsense c.1726 p.R576* 0.572 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 ZNF780B HGNC ENSG00000128000 162 0 0 114 49 30.0613 ZNF780B 0 genome.wustl.edu 37 19 40541891 40541891 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 40541891 40541891 A C SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.875 p.L292R 0.011 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 ZNF780B HGNC ENSG00000128000 138 0 0 49 97 66.4384 SPTBN4 0 genome.wustl.edu 37 19 41063123 41063123 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 41063123 41063123 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.5484 p.Q1828H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 88 0 0 40 26 39.3939 CYP2A13 0 genome.wustl.edu 37 19 41597723 41597723 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 41597723 41597723 C A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.741 p.F247L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 112 0 0 58 34 36.9565 CYP2F1 0 genome.wustl.edu 37 19 41631482 41631482 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 41631482 41631482 T G SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.1237 p.F413V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 108 0 0 53 26 32.9114 CYP2S1 0 genome.wustl.edu 37 19 41700500 41700500 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 41700500 41700500 C T SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.229 p.P77S 0.945 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 107 0 0 18 56 75.6757 ARHGEF1 0 genome.wustl.edu 37 19 42396120 42396120 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 42396120 42396120 C T SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known silent c.295 p.L99 0.999 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 98 0 0 47 28 37.3333 LIPE 0 genome.wustl.edu 37 19 42912401 42912401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 42912401 42912401 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known missense c.1493 p.R498H 1.000 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 266 0 0 115 57 33.1395 CEACAM8 0 genome.wustl.edu 37 19 43087468 43087468 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 43087468 43087468 G T SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known missense c.980 p.S327Y 0.003 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 80 0 0 52 20 27.7778 PSG10P 0 genome.wustl.edu 37 19 43349198 43349198 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 43349198 43349198 G A SNP PSG10P ENST00000597171 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG10P HGNC ENSG00000248257 291 0 0 169 65 27.7778 PSG1 0 genome.wustl.edu 37 19 43375919 43375919 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 43375919 43375919 G A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.709 p.P237S 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 524 0 0 145 324 69.0832 PSG5 0 genome.wustl.edu 37 19 43689144 43689144 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 43689144 43689144 C T SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known missense c.220 p.D74N 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 454 0 0 264 138 34.3284 PSG4 0 genome.wustl.edu 37 19 43699426 43699426 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 43699426 43699426 C T SNP PSG4 ENST00000405312 human ensembl 74_37 -1 known splice_site c.710-1 e4-1 0.078 - - - no_errors PSG4 HGNC ENSG00000243137 284 0 0 73 157 68.2609 ZNF221 0 genome.wustl.edu 37 19 44470846 44470846 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44470846 44470846 G T SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known nonsense c.1192 p.E398* 0.002 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 ZNF221 HGNC ENSG00000159905 155 0 0 79 42 34.7107 ZNF223 0 genome.wustl.edu 37 19 44570416 44570416 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44570416 44570416 G T SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.765 p.Q255H 0.986 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 192 0 0 132 57 30.1587 ZNF224 0 genome.wustl.edu 37 19 44611252 44611252 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44611252 44611252 G T SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.939 p.E313D 0.459 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 ZNF224 HGNC ENSG00000267680 234 1 0.425532 81 141 63.5135 ZNF225 0 genome.wustl.edu 37 19 44636406 44636406 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44636406 44636406 A C SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1639 p.K547Q 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 135 0 0 98 46 31.9444 ZNF226 0 genome.wustl.edu 37 19 44680167 44680167 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44680167 44680167 C T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.752 p.S251L 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ENSG00000167380 106 0 0 87 5 5.43478 ZNF226 0 genome.wustl.edu 37 19 44681081 44681081 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44681081 44681081 G T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known nonsense c.1666 p.E556* 0.996 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 ZNF226 HGNC ENSG00000167380 213 0 0 125 65 34.2105 ZNF226 0 genome.wustl.edu 37 19 44681178 44681178 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44681178 44681178 A C SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.1763 p.K588T 0.992 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 ZNF226 HGNC ENSG00000167380 151 0 0 51 106 67.5159 ZNF226 0 genome.wustl.edu 37 19 44681808 44681808 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 44681808 44681808 A T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.2393 p.E798V 0.382 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ENSG00000167380 41 0 0 33 3 8.33333 CLASRP 0 genome.wustl.edu 37 19 45563839 45563839 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 45563839 45563839 G A SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known missense c.817 p.E273K 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 34 0 0 29 8 21.6216 SEMA6B 0 genome.wustl.edu 37 19 4557207 4557207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 4557207 4557207 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.274 p.P92S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 58 0 0 17 15 46.875 EXOC3L2 0 genome.wustl.edu 37 19 45731000 45731000 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 45731000 45731000 C A SNP EXOC3L2 ENST00000252482 human ensembl 74_37 -1 known missense c.324 p.E108D 1.000 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 38 0 0 10 4 28.5714 CKM 0 genome.wustl.edu 37 19 45810167 45810167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 45810167 45810167 G A SNP CKM ENST00000221476 human ensembl 74_37 -1 known silent c.987 p.A329 0.709 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 220 0 0 56 100 64.1026 ERCC2 0 genome.wustl.edu 37 19 45868310 45868310 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 45868310 45868310 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.467 p.R156Q 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 60 0 0 12 22 64.7059 RTN2 0 genome.wustl.edu 37 19 45998139 45998139 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 45998139 45998139 G T SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known silent c.204 p.A68 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 70 0 0 20 35 63.6364 DMPK 0 genome.wustl.edu 37 19 46282726 46282726 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 46282726 46282726 T G SNP DMPK ENST00000343373 human ensembl 74_37 -1 known missense c.337 p.N113H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 230 0 0 98 53 35.0993 RSPH6A 0 genome.wustl.edu 37 19 46308102 46308102 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 46308102 46308102 C A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1061 p.S354I 0.769 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 67 0 0 29 15 34.0909 MYPOP 0 genome.wustl.edu 37 19 46393881 46393881 + Nonstop_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 46393881 46393881 T C SNP MYPOP ENST00000322217 human ensembl 74_37 -1 known nonstop c.1200 p.*400W 0.995 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 112 0 0 14 51 78.4615 NANOS2 0 genome.wustl.edu 37 19 46417834 46417834 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 46417834 46417834 G T SNP NANOS2 ENST00000341294 human ensembl 74_37 -1 known missense c.118 p.P40T 0.002 NULL pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 123 0 0 52 28 35 PNMAL1 0 genome.wustl.edu 37 19 46973370 46973370 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 46973370 46973370 G A SNP PNMAL1 ENST00000313683 human ensembl 74_37 -1 known missense c.923 p.A308V 0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 359 0 0 79 151 65.6522 KPTN 0 genome.wustl.edu 37 19 47986471 47986471 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 47986471 47986471 C A SNP KPTN ENST00000338134 human ensembl 74_37 -1 known missense c.396 p.Q132H 1.000 NULL NULL - no_errors KPTN HGNC ENSG00000118162 303 0 0 150 72 32.4324 SULT2A1 0 genome.wustl.edu 37 19 48386971 48386971 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 48386971 48386971 G A SNP SULT2A1 ENST00000222002 human ensembl 74_37 -1 known missense c.208 p.P70S 0.744 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT2A1 HGNC ENSG00000105398 83 0 0 19 50 72.4638 CABP5 0 genome.wustl.edu 37 19 48543980 48543980 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 48543980 48543980 G A SNP CABP5 ENST00000293255 human ensembl 74_37 -1 known silent c.120 p.F40 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP5 HGNC ENSG00000105507 138 0 0 29 56 65.8824 PLIN3 0 genome.wustl.edu 37 19 4859985 4859985 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 4859985 4859985 C T SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known missense c.118 p.D40N 0.909 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 87 0 0 44 5 10.2041 ZNF114 0 genome.wustl.edu 37 19 48789668 48789668 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 48789668 48789668 C A SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.787 p.H263N 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 150 0 0 48 92 65.7143 ARRDC5 0 genome.wustl.edu 37 19 4891415 4891415 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 4891415 4891415 G A SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known silent c.672 p.F224 0.001 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 70 0 0 36 12 25 KCNJ14 0 genome.wustl.edu 37 19 48967513 48967513 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 48967513 48967513 G A SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known missense c.790 p.D264N 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 59 0 0 20 9 31.0345 IZUMO1 0 genome.wustl.edu 37 19 49245472 49245472 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 49245472 49245472 A C SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known missense c.594 p.F198L 0.976 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 141 0 0 33 78 70.2703 PLEKHA4 0 genome.wustl.edu 37 19 49364675 49364675 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 49364675 49364675 G A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.349 p.R117W 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 94 0 0 46 17 26.9841 PLEKHA4 0 genome.wustl.edu 37 19 49368824 49368824 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 49368824 49368824 C A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.128 p.R43I 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 71 0 0 33 15 31.25 TSKS 0 genome.wustl.edu 37 19 50251693 50251693 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50251693 50251693 C A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.433 p.D145Y 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 105 0 0 50 21 29.5775 IL4I1 0 genome.wustl.edu 37 19 50399224 50399224 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50399224 50399224 C T SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.166 p.E56K 0.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 183 0 0 85 35 29.1667 ZNF473 0 genome.wustl.edu 37 19 50549532 50549532 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50549532 50549532 G A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.1832 p.R611K 0.307 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 ZNF473 HGNC ENSG00000142528 84 0 0 54 28 34.1463 ZNF473 0 genome.wustl.edu 37 19 50550117 50550117 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50550117 50550117 G T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.2417 p.R806I 0.062 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 ZNF473 HGNC ENSG00000142528 94 0 0 48 26 35.1351 MYH14 0 genome.wustl.edu 37 19 50720889 50720889 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50720889 50720889 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.423 p.F141 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 196 0 0 113 46 28.9308 SPIB 0 genome.wustl.edu 37 19 50926154 50926154 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50926154 50926154 G A SNP SPIB ENST00000595883 human ensembl 74_37 +1 known missense c.199 p.A67T 0.001 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 213 0 0 35 112 76.1905 MYBPC2 0 genome.wustl.edu 37 19 50951486 50951486 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 50951486 50951486 A G SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.1311 p.K437 0.998 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 60 0 0 25 11 30.5556 LRRC4B 0 genome.wustl.edu 37 19 51022417 51022417 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 51022417 51022417 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.553 p.R185W 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 118 0 0 37 22 37.2881 LRRC4B 0 genome.wustl.edu 37 19 51051822 51051822 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 51051822 51051822 T C SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.274 p.N92D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 26 0 0 0 3 100 KLK3 0 genome.wustl.edu 37 19 51361284 51361284 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 51361284 51361284 G A SNP KLK3 ENST00000326003 human ensembl 74_37 +1 known splice_site c.207-1 e3-1 0.001 - - - no_errors KLK3 HGNC ENSG00000142515 64 0 0 30 23 43.3962 SIGLEC10 0 genome.wustl.edu 37 19 51919253 51919253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 51919253 51919253 A C SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.923 p.L308R 0.983 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 122 0 0 22 49 69.0141 SIGLEC12 0 genome.wustl.edu 37 19 52000207 52000207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52000207 52000207 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.1526 p.S509L 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 153 0 0 30 57 65.5172 SIGLEC5 0 genome.wustl.edu 37 19 52130481 52130481 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52130481 52130481 C T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1303 p.G435R 0.001 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 66 0 0 34 12 26.087 FPR1 0 genome.wustl.edu 37 19 52249296 52249296 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52249296 52249296 C T SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known missense c.952 p.A318T 0.155 prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 162 0 0 84 44 34.375 FPR1 0 genome.wustl.edu 37 19 52250104 52250104 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52250104 52250104 G A SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known silent c.144 p.I48 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 104 0 0 21 58 73.4177 ZNF577 0 genome.wustl.edu 37 19 52376895 52376895 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52376895 52376895 T C SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known silent c.348 p.R116 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF577 HGNC ENSG00000161551 96 0 0 28 43 60.5634 ZNF613 0 genome.wustl.edu 37 19 52447723 52447723 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52447723 52447723 G A SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.587 p.R196Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 385 0 0 97 207 68.0921 ZNF432 0 genome.wustl.edu 37 19 52537131 52537131 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52537131 52537131 C A SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known nonsense c.1801 p.E601* 0.016 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 ZNF432 HGNC ENSG00000256087 192 0 0 105 44 29.5302 ZNF841 0 genome.wustl.edu 37 19 52568865 52568865 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52568865 52568865 C A SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.2270 p.R757I 0.403 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 17 0 0 8 19 70.3704 ZNF616 0 genome.wustl.edu 37 19 52618189 52618189 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52618189 52618189 T G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.2228 p.K743T 0.361 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 ZNF616 HGNC ENSG00000204611 151 0 0 43 97 69.2857 ZNF616 0 genome.wustl.edu 37 19 52619990 52619990 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52619990 52619990 T G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.427 p.N143H 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 172 0 0 60 115 65.7143 PPP2R1A 0 genome.wustl.edu 37 19 52716217 52716217 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52716217 52716217 C T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.661 p.R221W 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 120 1 0.826446 21 58 73.4177 ZNF766 0 genome.wustl.edu 37 19 52785394 52785394 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52785394 52785394 G T SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known nonsense c.94 p.E32* 0.941 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 ZNF766 HGNC ENSG00000196214 324 0 0 90 164 64.5669 ZNF480 0 genome.wustl.edu 37 19 52825331 52825331 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52825331 52825331 A G SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known silent c.828 p.R276 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 68 0 0 15 35 70 ZNF610 0 genome.wustl.edu 37 19 52856965 52856965 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 52856965 52856965 G A SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.94 p.E32K 0.891 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 ZNF610 HGNC ENSG00000167554 128 0 0 26 82 75.9259 ZNF578 0 genome.wustl.edu 37 19 53013860 53013860 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53013860 53013860 T C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.226 p.S76P 0.000 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 ZNF578 HGNC ENSG00000258405 262 0 0 74 111 60 ZNF578 0 genome.wustl.edu 37 19 53014974 53014974 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53014974 53014974 G C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1340 p.R447T 0.015 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 ZNF578 HGNC ENSG00000258405 114 0 0 26 65 71.4286 ZNF701 0 genome.wustl.edu 37 19 53086082 53086082 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53086082 53086082 A C SNP ZNF701 ENST00000301093 human ensembl 74_37 +1 known missense c.968 p.Y323S 0.002 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 ZNF701 HGNC ENSG00000167562 106 0 0 52 28 35 ZNF701 0 genome.wustl.edu 37 19 53086702 53086702 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53086702 53086702 A C SNP ZNF701 ENST00000301093 human ensembl 74_37 +1 known missense c.1588 p.K530Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF701 HGNC ENSG00000167562 52 0 0 13 29 69.0476 ZNF816 0 genome.wustl.edu 37 19 53453915 53453915 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53453915 53453915 A G SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known silent c.1113 p.C371 0.196 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 ZNF816 HGNC ENSG00000180257 257 0 0 155 74 32.3144 ZNF816 0 genome.wustl.edu 37 19 53454606 53454606 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53454606 53454606 C T SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known missense c.422 p.R141Q 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 406 0 0 208 135 39.3586 ZNF347 0 genome.wustl.edu 37 19 53644231 53644231 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53644231 53644231 C T SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.1853 p.R618Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 182 0 0 52 110 67.9012 ZNF347 0 genome.wustl.edu 37 19 53645327 53645327 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53645327 53645327 G A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known nonsense c.757 p.Q253* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 182 0 0 48 104 68.4211 ZNF665 0 genome.wustl.edu 37 19 53668755 53668755 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53668755 53668755 G A SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.988 p.R330C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 170 0 0 30 93 75.6098 ZNF665 0 genome.wustl.edu 37 19 53668977 53668977 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53668977 53668977 G T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.766 p.H256N 0.956 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 ZNF665 HGNC ENSG00000197497 175 0 0 99 50 33.557 VN1R2 0 genome.wustl.edu 37 19 53762651 53762651 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53762651 53762651 C T SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known silent c.1023 p.F341 0.000 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 271 0 0 126 68 35.0515 BIRC8 0 genome.wustl.edu 37 19 53793036 53793036 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53793036 53793036 C T SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known missense c.592 p.A198T 0.003 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 133 0 0 38 91 70.5426 BIRC8 0 genome.wustl.edu 37 19 53793162 53793162 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53793162 53793162 C T SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known missense c.466 p.A156T 0.017 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 139 0 0 34 99 74.4361 ZNF761 0 genome.wustl.edu 37 19 53958094 53958094 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53958094 53958094 A G SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.409 - - - no_errors ZNF761 HGNC ENSG00000160336 148 1 0.671141 59 85 59.0278 ZNF813 0 genome.wustl.edu 37 19 53994839 53994839 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 53994839 53994839 T G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.1353 p.N451K 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 ZNF813 HGNC ENSG00000198346 86 0 0 24 51 68 MIR520A 0 genome.wustl.edu 37 19 54194135 54194135 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 54194135 54194135 C A SNP MIR520A ENST00000384862 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors MIR520A HGNC ENSG00000207594 251 0 0 146 69 32.093 CACNG7 0 genome.wustl.edu 37 19 54444771 54444771 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 54444771 54444771 G A SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.472 p.D158N 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 185 0 0 72 41 36.2832 LILRA6 0 genome.wustl.edu 37 19 54744915 54744915 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 54744915 54744915 G A SNP LILRA6 ENST00000419410 human ensembl 74_37 -1 known silent c.747 p.V249 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 202 1 0.492611 94 53 36.0544 LILRB5 0 genome.wustl.edu 37 19 54759153 54759153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 54759153 54759153 G A SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known silent c.921 p.I307 0.832 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 65 0 0 61 5 7.57576 LILRB5 0 genome.wustl.edu 37 19 54760832 54760832 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 54760832 54760832 A G SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.62 p.V21A 0.023 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 107 0 0 49 15 23.4375 LENG8 0 genome.wustl.edu 37 19 54962550 54962550 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 54962550 54962550 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.29 p.S10N 0.001 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 93 0 0 68 22 24.4444 LILRB4 0 genome.wustl.edu 37 19 55176585 55176585 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55176585 55176585 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.711 p.G237 0.161 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 25 0 0 6 9 60 ENSG00000215765 0 genome.wustl.edu 37 19 55301703 55301703 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55301703 55301703 C T SNP ENSG00000215765 ENST00000400864 human ensembl 74_37 +1 known rna NULL NULL 0.205 - - - no_errors CTB-61M7.1 Clone_based_vega_gene ENSG00000215765 43 0 0 16 6 27.2727 KIR3DL1 0 genome.wustl.edu 37 19 55331352 55331352 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55331352 55331352 C A SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.540 p.F180L 0.002 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 415 1 0.240385 239 126 34.5205 KIR3DL1 0 genome.wustl.edu 37 19 55341405 55341405 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55341405 55341405 G A SNP KIR3DL1 ENST00000391728 human ensembl 74_37 +1 known silent c.1128 p.E376 0.084 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 239 0 0 70 131 65.1741 KIR3DL2 0 genome.wustl.edu 37 19 55363593 55363593 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55363593 55363593 T G SNP KIR3DL2 ENST00000326321 human ensembl 74_37 +1 known missense c.211 p.F71V 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 88 0 0 42 22 34.375 ENSG00000267149 0 genome.wustl.edu 37 19 55556347 55556347 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55556347 55556347 C T SNP ENSG00000267149 ENST00000585492 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-550B14.6 Clone_based_vega_gene ENSG00000267149 13 0 0 8 10 55.5556 PPP1R12C 0 genome.wustl.edu 37 19 55607700 55607700 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55607700 55607700 G A SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.955 p.R319W 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 199 1 0.5 94 61 39.3548 TNNT1 0 genome.wustl.edu 37 19 55652593 55652593 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55652593 55652593 C A SNP TNNT1 ENST00000588981 human ensembl 74_37 -1 known missense c.270 p.K90N 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT1 HGNC ENSG00000105048 134 0 0 54 30 35.7143 SYT5 0 genome.wustl.edu 37 19 55686654 55686654 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55686654 55686654 G A SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known silent c.594 p.F198 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 39 0 0 6 15 71.4286 BRSK1 0 genome.wustl.edu 37 19 55805594 55805594 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55805594 55805594 T G SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known nonsense c.636 p.Y212* 0.998 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 166 0 0 58 29 33.3333 TMEM150B 0 genome.wustl.edu 37 19 55828275 55828275 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 55828275 55828275 G A SNP TMEM150B ENST00000326652 human ensembl 74_37 -1 known silent c.384 p.N128 0.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150B HGNC ENSG00000180061 39 0 0 16 6 27.2727 NLRP9 0 genome.wustl.edu 37 19 56244828 56244828 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56244828 56244828 G T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.369 p.F123L 0.183 superfamily_P-loop_NTPase 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 NLRP9 HGNC ENSG00000185792 126 0 0 26 74 74 NLRP11 0 genome.wustl.edu 37 19 56321612 56321612 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56321612 56321612 G A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.364 p.R122C 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 76 0 0 38 17 30.9091 NLRP13 0 genome.wustl.edu 37 19 56407479 56407479 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56407479 56407479 C T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known silent c.2964 p.A988 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 155 1 0.641026 39 69 63.8889 NLRP13 0 genome.wustl.edu 37 19 56423490 56423490 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56423490 56423490 C A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known nonsense c.1693 p.E565* 0.535 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 NLRP13 HGNC ENSG00000173572 200 0 0 46 91 66.4234 NLRP8 0 genome.wustl.edu 37 19 56459552 56459552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56459552 56459552 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.284 p.R95Q 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP8 HGNC ENSG00000179709 78 0 0 39 26 40 NLRP8 0 genome.wustl.edu 37 19 56467001 56467001 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56467001 56467001 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1577 p.R526K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 257 0 0 66 127 65.8031 ZSCAN5B 0 genome.wustl.edu 37 19 56703252 56703252 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56703252 56703252 G T SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known silent c.555 p.I185 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 84 0 0 43 24 35.8209 ZNF583 0 genome.wustl.edu 37 19 56935142 56935142 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56935142 56935142 G T SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known missense c.1115 p.R372I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 104 0 0 74 37 33.3333 ZNF667 0 genome.wustl.edu 37 19 56953546 56953546 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56953546 56953546 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1202 p.K401T 0.126 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 ZNF667 HGNC ENSG00000198046 114 0 0 69 38 35.514 ZNF667 0 genome.wustl.edu 37 19 56973782 56973782 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 56973782 56973782 G T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known silent c.237 p.L79 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 124 0 0 89 9 9.18367 ZFP28 0 genome.wustl.edu 37 19 57059234 57059234 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57059234 57059234 G A SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known nonsense c.486 p.W162* 0.431 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 ZFP28 HGNC ENSG00000196867 119 0 0 59 29 32.9545 ZFP28 0 genome.wustl.edu 37 19 57066652 57066652 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57066652 57066652 G A SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.2498 p.R833Q 0.150 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 ZFP28 HGNC ENSG00000196867 414 1 0.240964 230 129 35.9331 ZNF470 0 genome.wustl.edu 37 19 57088137 57088137 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57088137 57088137 G T SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known nonsense c.340 p.E114* 0.095 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 95 0 0 49 35 41.6667 ZNF470 0 genome.wustl.edu 37 19 57089047 57089047 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57089047 57089047 G T SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1250 p.R417I 0.997 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 ZNF470 HGNC ENSG00000197016 135 0 0 86 15 14.8515 ZNF470 0 genome.wustl.edu 37 19 57089613 57089613 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57089613 57089613 G A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1816 p.A606T 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 ZNF470 HGNC ENSG00000197016 89 0 0 44 25 36.2319 ZNF835 0 genome.wustl.edu 37 19 57175095 57175095 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57175095 57175095 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1472 p.R491Q 0.154 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 362 1 0.275482 166 76 31.405 PEG3 0 genome.wustl.edu 37 19 57329140 57329140 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57329140 57329140 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.836 p.R279I 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 57 0 0 9 29 76.3158 USP29 0 genome.wustl.edu 37 19 57641212 57641212 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57641212 57641212 A C SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1169 p.K390T 0.767 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 136 0 0 73 43 37.069 ZNF805 0 genome.wustl.edu 37 19 57765821 57765821 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57765821 57765821 G A SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.1634 p.G545E 0.996 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 ZNF805 HGNC ENSG00000204524 99 0 0 65 27 29.3478 ZNF805 0 genome.wustl.edu 37 19 57765835 57765835 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57765835 57765835 C T SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.1648 p.R550C 0.733 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 ZNF805 HGNC ENSG00000204524 92 0 0 32 55 63.2184 ZNF460 0 genome.wustl.edu 37 19 57802298 57802298 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57802298 57802298 C T SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.389 p.A130V 0.147 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF460 HGNC ENSG00000197714 177 0 0 101 55 35.2564 ZNF17 0 genome.wustl.edu 37 19 57932413 57932413 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57932413 57932413 G T SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known missense c.1553 p.R518I 0.989 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 ZNF17 HGNC ENSG00000186272 160 0 0 49 96 66.2069 ZNF749 0 genome.wustl.edu 37 19 57956643 57956643 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 57956643 57956643 G A SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known silent c.2127 p.S709 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 ZNF749 HGNC ENSG00000186230 83 0 0 59 34 36.5591 ZNF419 0 genome.wustl.edu 37 19 58004329 58004329 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58004329 58004329 A C SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.407 p.K136T 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 81 0 0 20 35 63.6364 ZNF773 0 genome.wustl.edu 37 19 58018216 58018216 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58018216 58018216 C A SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known missense c.753 p.D251E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 130 0 0 61 52 46.0177 ZIK1 0 genome.wustl.edu 37 19 58102074 58102074 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58102074 58102074 G A SNP ZIK1 ENST00000597850 human ensembl 74_37 +1 known missense c.895 p.E299K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIK1 HGNC ENSG00000171649 82 0 0 57 32 35.9551 ZNF530 0 genome.wustl.edu 37 19 58115765 58115765 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58115765 58115765 G A SNP ZNF530 ENST00000332854 human ensembl 74_37 +1 known missense c.151 p.A51T 0.000 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 ZNF530 HGNC ENSG00000183647 380 0 0 150 72 32.4324 ZSCAN4 0 genome.wustl.edu 37 19 58187817 58187817 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58187817 58187817 G A SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known missense c.304 p.A102T 0.001 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 120 0 0 32 73 69.5238 ZNF671 0 genome.wustl.edu 37 19 58232204 58232204 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58232204 58232204 C T SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known missense c.1250 p.R417Q 0.489 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 ZNF671 HGNC ENSG00000083814 130 0 0 31 61 66.3043 ZNF671 0 genome.wustl.edu 37 19 58234635 58234635 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58234635 58234635 C A SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known missense c.212 p.R71I 0.394 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 ZNF671 HGNC ENSG00000083814 213 0 0 56 116 67.4419 ZNF552 0 genome.wustl.edu 37 19 58326023 58326023 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58326023 58326023 T G SNP ZNF552 ENST00000596248 human ensembl 74_37 -1 known missense c.89 p.K30T 0.009 NULL NULL - no_errors ZNF552 HGNC ENSG00000178935 45 0 0 12 10 45.4545 ZNF814 0 genome.wustl.edu 37 19 58386057 58386057 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58386057 58386057 C T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.701 p.R234K 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 13 0 0 9 6 40 ZNF418 0 genome.wustl.edu 37 19 58438323 58438323 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58438323 58438323 C T SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.1226 p.R409Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 315 0 0 149 78 34.3612 ZNF606 0 genome.wustl.edu 37 19 58489988 58489988 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58489988 58489988 C A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.2060 p.R687I 0.844 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 ZNF606 HGNC ENSG00000166704 124 0 0 50 35 41.1765 ZNF606 0 genome.wustl.edu 37 19 58490033 58490033 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58490033 58490033 C A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.2015 p.R672I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 146 0 0 20 71 78.022 ZSCAN18 0 genome.wustl.edu 37 19 58601494 58601494 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58601494 58601494 G T SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.309 p.F103L 0.203 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 75 0 0 23 46 66.6667 A1BG-AS1 0 genome.wustl.edu 37 19 58864821 58864821 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58864821 58864821 C T SNP A1BG-AS1 ENST00000593374 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors A1BG-AS1 HGNC ENSG00000268895 20 0 0 2 11 84.6154 ZNF132 0 genome.wustl.edu 37 19 58944990 58944990 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58944990 58944990 G A SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known silent c.1821 p.F607 0.413 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 ZNF132 HGNC ENSG00000131849 164 0 0 38 85 69.1057 ZNF132 0 genome.wustl.edu 37 19 58945795 58945795 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 58945795 58945795 C A SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.1016 p.R339I 0.984 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 ZNF132 HGNC ENSG00000131849 93 0 0 21 57 73.0769 RANBP3 0 genome.wustl.edu 37 19 5917945 5917945 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 5917945 5917945 C T SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.1520 p.R507H 1.000 smart_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 169 0 0 57 29 33.7209 RFX2 0 genome.wustl.edu 37 19 5997113 5997113 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 5997113 5997113 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known silent c.1971 p.V657 0.996 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 93 0 0 53 34 39.0805 RFX2 0 genome.wustl.edu 37 19 6016224 6016224 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6016224 6016224 G T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.656 p.S219Y 1.000 pfam_DNA-bd_RFX pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 84 0 0 48 24 33.3333 HCN2 0 genome.wustl.edu 37 19 603624 603624 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 603624 603624 A G SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.713 p.D238G 0.995 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 74 0 0 28 15 34.8837 ACSBG2 0 genome.wustl.edu 37 19 6165951 6165951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6165951 6165951 G A SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known silent c.663 p.A221 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 139 0 0 71 32 31.068 C3 0 genome.wustl.edu 37 19 6677886 6677886 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6677886 6677886 G A SNP C3 ENST00000599668 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C3 HGNC ENSG00000125730 65 0 0 30 17 36.1702 C3 0 genome.wustl.edu 37 19 6684608 6684608 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6684608 6684608 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.4083 p.F1361 0.300 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 210 0 0 96 49 33.7931 C3 0 genome.wustl.edu 37 19 6707489 6707489 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6707489 6707489 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known nonsense c.2035 p.R679* 0.824 superfamily_Anaphylatoxin_comp_syst pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 158 0 0 70 38 35.1852 C3 0 genome.wustl.edu 37 19 6711129 6711129 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6711129 6711129 C A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1348 p.G450C 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 194 0 0 80 41 33.8843 C3 0 genome.wustl.edu 37 19 6712386 6712386 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6712386 6712386 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1151 p.A384V 0.990 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 114 0 0 42 12 22.2222 EMR1 0 genome.wustl.edu 37 19 6908736 6908736 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 6908736 6908736 G A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.1075 p.V359I 0.001 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 102 0 0 84 25 22.9358 ZNF557 0 genome.wustl.edu 37 19 7081448 7081448 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7081448 7081448 C A SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known missense c.325 p.L109I 0.004 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 ZNF557 HGNC ENSG00000130544 37 0 0 21 13 38.2353 PEX11G 0 genome.wustl.edu 37 19 7550752 7550752 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7550752 7550752 T C SNP PEX11G ENST00000221480 human ensembl 74_37 -1 known missense c.221 p.Y74C 1.000 pfam_PEX11 pfam_PEX11 - no_errors PEX11G HGNC ENSG00000104883 177 0 0 89 37 29.3651 XAB2 0 genome.wustl.edu 37 19 7687232 7687232 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7687232 7687232 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.1602 p.F534 0.901 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 246 0 0 123 60 32.7869 XAB2 0 genome.wustl.edu 37 19 7689248 7689248 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7689248 7689248 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.906 p.F302 0.862 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 167 0 0 52 31 37.3494 XAB2 0 genome.wustl.edu 37 19 7693137 7693137 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7693137 7693137 G T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.99 p.F33L 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 75 0 0 41 26 38.806 CLEC4M 0 genome.wustl.edu 37 19 7831062 7831062 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7831062 7831062 T G SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known nonsense c.753 p.Y251* 0.041 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 162 0 0 83 50 37.594 TIMM44 0 genome.wustl.edu 37 19 7999114 7999114 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 7999114 7999114 C T SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known missense c.403 p.E135K 1.000 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 162 0 0 60 34 36.1702 FBN3 0 genome.wustl.edu 37 19 8161429 8161429 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 8161429 8161429 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5438 p.P1813L 0.982 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 75 0 0 28 14 33.3333 FBN3 0 genome.wustl.edu 37 19 8196634 8196634 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 8196634 8196634 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.1794 p.C598 0.997 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 56 0 0 26 20 43.4783 MYO1F 0 genome.wustl.edu 37 19 8612995 8612995 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 8612995 8612995 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.1194 p.F398 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 310 0 0 130 65 33.3333 MUC16 0 genome.wustl.edu 37 19 9010990 9010990 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9010990 9010990 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.38928 p.S12976 0.000 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 160 0 0 105 46 30.4636 MUC16 0 genome.wustl.edu 37 19 9014190 9014190 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9014190 9014190 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38458 p.T12820P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 98 0 0 55 28 33.7349 MUC16 0 genome.wustl.edu 37 19 9024886 9024886 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9024886 9024886 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.36976 p.T12326A 0.048 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 235 0 0 137 69 33.4951 MUC16 0 genome.wustl.edu 37 19 9028387 9028387 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9028387 9028387 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.36405 p.K12135N 0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 198 0 0 93 47 33.5714 MUC16 0 genome.wustl.edu 37 19 9045784 9045784 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9045784 9045784 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.35847 p.E11949D 0.093 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 161 0 0 94 36 27.6923 MUC16 0 genome.wustl.edu 37 19 9049699 9049699 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9049699 9049699 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.31932 p.I10644 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 105 0 0 68 33 32.6733 MUC16 0 genome.wustl.edu 37 19 9056340 9056340 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9056340 9056340 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31106 p.S10369N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 152 0 0 84 41 32.8 MUC16 0 genome.wustl.edu 37 19 9056704 9056704 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9056704 9056704 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30742 p.E10248K 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 93 0 0 43 32 42.6667 MUC16 0 genome.wustl.edu 37 19 9058293 9058293 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9058293 9058293 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.29153 p.P9718H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 80 0 0 38 15 28.3019 MUC16 0 genome.wustl.edu 37 19 9062990 9062990 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9062990 9062990 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24456 p.E8152D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 158 0 0 80 45 36 MUC16 0 genome.wustl.edu 37 19 9067439 9067439 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9067439 9067439 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.20007 p.I6669 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 218 0 0 101 37 26.8116 MUC16 0 genome.wustl.edu 37 19 9068735 9068735 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9068735 9068735 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.18711 p.T6237 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 121 0 0 58 39 40.2062 MUC16 0 genome.wustl.edu 37 19 9068878 9068878 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9068878 9068878 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18568 p.D6190Y 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 115 0 0 60 30 33.3333 MUC16 0 genome.wustl.edu 37 19 9069874 9069874 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9069874 9069874 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.17572 p.E5858* 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 206 1 0.483092 97 69 41.5663 MUC16 0 genome.wustl.edu 37 19 9070332 9070332 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9070332 9070332 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17114 p.A5705V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 107 0 0 66 31 31.9588 MUC16 0 genome.wustl.edu 37 19 9084370 9084370 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9084370 9084370 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7445 p.D2482G 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 91 0 0 40 21 34.4262 MUC16 0 genome.wustl.edu 37 19 9086216 9086216 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9086216 9086216 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5599 p.T1867A 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 89 0 0 39 13 25 OR7G1 0 genome.wustl.edu 37 19 9226198 9226198 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9226198 9226198 A G SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known missense c.242 p.I81T 0.331 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 256 0 0 167 57 25.4464 OR7G1 0 genome.wustl.edu 37 19 9226251 9226251 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9226251 9226251 G T SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known silent c.189 p.L63 0.893 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 237 0 0 139 71 33.8095 OR7D2 0 genome.wustl.edu 37 19 9296766 9296766 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9296766 9296766 C T SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known silent c.309 p.F103 0.201 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 228 0 0 123 57 31.6667 OR7E24 0 genome.wustl.edu 37 19 9362082 9362082 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9362082 9362082 T G SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.363 p.F121L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 78 0 0 49 14 22.2222 OR7E24 0 genome.wustl.edu 37 19 9362171 9362171 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9362171 9362171 G A SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.452 p.R151Q 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 68 0 0 23 19 45.2381 ZNF699 0 genome.wustl.edu 37 19 9406606 9406606 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9406606 9406606 C T SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.1474 p.E492K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF699 HGNC ENSG00000196110 73 0 0 41 26 38.806 ZNF699 0 genome.wustl.edu 37 19 9407394 9407394 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9407394 9407394 C A SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.686 p.G229V 0.998 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 ZNF699 HGNC ENSG00000196110 158 0 0 129 60 31.746 ZNF559 0 genome.wustl.edu 37 19 9452436 9452436 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9452436 9452436 C T SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known silent c.309 p.H103 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF559 HGNC ENSG00000188321 93 0 0 61 29 32.2222 ZNF560 0 genome.wustl.edu 37 19 9577259 9577259 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9577259 9577259 T G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.2364 p.K788N 0.438 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 ZNF560 HGNC ENSG00000198028 136 0 0 79 40 33.6134 ZNF560 0 genome.wustl.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9577542 9577542 C T SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.2081 p.R694Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 235 1 0.423729 133 68 33.8308 ZNF560 0 genome.wustl.edu 37 19 9577768 9577768 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9577768 9577768 A C SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.1855 p.L619V 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 215 0 0 141 63 30.8824 ZNF121 0 genome.wustl.edu 37 19 9676675 9676675 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9676675 9676675 C T SNP ZNF121 ENST00000586602 human ensembl 74_37 -1 known missense c.1114 p.E372K 0.047 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ENSG00000197961 61 0 0 38 14 26.9231 ZNF562 0 genome.wustl.edu 37 19 9764135 9764135 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9764135 9764135 C A SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.771 p.K257N 0.500 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 ZNF562 HGNC ENSG00000171466 120 0 0 62 33 34.7368 ZNF812 0 genome.wustl.edu 37 19 9800800 9800800 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9800800 9800800 T G SNP ZNF812 ENST00000536819 human ensembl 74_37 -1 known rna NULL NULL 0.505 - - - no_errors ZNF812 HGNC ENSG00000224689 27 0 0 15 17 53.125 ZNF846 0 genome.wustl.edu 37 19 9868330 9868330 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9868330 9868330 C A SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known nonsense c.1423 p.E475* 1.000 smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 177 0 0 83 44 34.6457 ZNF846 0 genome.wustl.edu 37 19 9869139 9869139 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 19 9869139 9869139 C A SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known missense c.614 p.R205I 0.000 smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 85 0 0 103 7 6.36364 EIF5B 0 genome.wustl.edu 37 2 100009490 100009490 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 100009490 100009490 G T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.2809 p.D937Y 1.000 pfam_Transl_elong_EFTu/EF1A_2 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 72 0 0 39 19 32.7586 EIF5B 0 genome.wustl.edu 37 2 100011005 100011005 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 100011005 100011005 A C SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.3046 p.K1016Q 1.000 pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 275 0 0 187 89 32.2464 REV1 0 genome.wustl.edu 37 2 100037985 100037985 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 100037985 100037985 T G SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.1807 p.K603Q 0.561 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 162 0 0 99 41 29.2857 AFF3 0 genome.wustl.edu 37 2 100181988 100181988 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 100181988 100181988 G T SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.3155 p.S1052Y 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 162 0 0 140 13 8.49673 AFF3 0 genome.wustl.edu 37 2 100209899 100209899 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 100209899 100209899 A C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.2299 p.F767V 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 170 0 0 87 43 33.0769 TAF1B 0 genome.wustl.edu 37 2 10045058 10045058 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 10045058 10045058 T G SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.878 p.F293C 1.000 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 129 0 0 72 49 40.4959 NPAS2 0 genome.wustl.edu 37 2 101549440 101549440 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 101549440 101549440 G T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known nonsense c.445 p.E149* 1.000 smart_PAS,prints_Nuc_translocat,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 103 1 0.961538 48 24 33.3333 MAP4K4 0 genome.wustl.edu 37 2 102456429 102456429 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 102456429 102456429 C T SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.922 p.R308C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 99 0 0 62 17 21.519 IL1R2 0 genome.wustl.edu 37 2 102636172 102636172 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 102636172 102636172 G A SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.586 p.D196N 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 58 0 0 23 11 32.3529 IL18R1 0 genome.wustl.edu 37 2 103006646 103006646 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 103006646 103006646 A G SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known silent c.1080 p.R360 0.091 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 60 0 0 40 19 32.2034 IL18RAP 0 genome.wustl.edu 37 2 103053710 103053710 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 103053710 103053710 C T SNP IL18RAP ENST00000264260 human ensembl 74_37 +1 known silent c.618 p.I206 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL18RAP HGNC ENSG00000115607 112 0 0 62 33 34.7368 SLC9A4 0 genome.wustl.edu 37 2 103142801 103142801 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 103142801 103142801 C A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.2034 p.F678L 0.002 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 92 0 0 55 33 37.5 SLC9A2 0 genome.wustl.edu 37 2 103281693 103281693 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 103281693 103281693 G A SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known silent c.888 p.A296 0.029 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 179 0 0 93 50 34.965 TMEM182 0 genome.wustl.edu 37 2 103431205 103431205 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 103431205 103431205 A C SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known splice_site c.470-2 e5-2 0.998 - - - no_errors TMEM182 HGNC ENSG00000170417 37 0 0 24 8 25 TGFBRAP1 0 genome.wustl.edu 37 2 105915107 105915107 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 105915107 105915107 C T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.744 p.E248 1.000 pfam_Citron pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 81 0 0 45 26 36.6197 PLGLA 0 genome.wustl.edu 37 2 107009331 107009331 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 107009331 107009331 G A SNP PLGLA ENST00000482249 human ensembl 74_37 +1 known rna NULL NULL 0.060 - - - no_errors PLGLA HGNC ENSG00000240935 98 0 0 59 33 35.8696 RGPD3 0 genome.wustl.edu 37 2 107049441 107049441 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 107049441 107049441 C A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2419 p.D807Y 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 96 0 0 54 30 35.7143 RGPD3 0 genome.wustl.edu 37 2 107049579 107049579 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 107049579 107049579 G A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2368 p.P790S 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 86 0 0 56 27 32.5301 RGPD3 0 genome.wustl.edu 37 2 107050701 107050701 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 107050701 107050701 G T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2188 p.L730I 0.890 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 111 0 0 76 38 33.3333 ST6GAL2 0 genome.wustl.edu 37 2 107450509 107450509 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 107450509 107450509 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1037 p.S346L 1.000 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 145 0 0 87 38 30.4 RGPD4 0 genome.wustl.edu 37 2 108487346 108487346 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 108487346 108487346 T G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.2886 p.I962M 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 143 0 0 98 57 36.7742 SLC5A7 0 genome.wustl.edu 37 2 108626988 108626988 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 108626988 108626988 A G SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.1414 p.I472V 0.003 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 88 0 0 67 35 34.3137 SULT1C3 0 genome.wustl.edu 37 2 108875197 108875197 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 108875197 108875197 C T SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known silent c.534 p.G178 0.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 105 0 0 46 29 38.6667 GCC2 0 genome.wustl.edu 37 2 109086173 109086173 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109086173 109086173 G T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known nonsense c.388 p.E130* 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 87 0 0 78 39 33.3333 GCC2 0 genome.wustl.edu 37 2 109087388 109087388 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109087388 109087388 G A SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.1603 p.E535K 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 123 0 0 86 47 35.3383 GCC2 0 genome.wustl.edu 37 2 109088540 109088540 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109088540 109088540 C T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known nonsense c.2755 p.R919* 0.995 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 64 0 0 83 38 31.405 RANBP2 0 genome.wustl.edu 37 2 109379884 109379884 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109379884 109379884 T G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2889 p.N963K 0.999 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 105 0 0 61 38 38.3838 RANBP2 0 genome.wustl.edu 37 2 109380976 109380976 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109380976 109380976 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.3981 p.T1327 0.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 144 0 0 73 42 36.5217 RANBP2 0 genome.wustl.edu 37 2 109382509 109382509 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109382509 109382509 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.5514 p.G1838 0.676 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 176 0 0 106 36 25.3521 RANBP2 0 genome.wustl.edu 37 2 109383881 109383881 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109383881 109383881 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.6886 p.E2296K 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 253 0 0 139 80 36.5297 SNTG2 0 genome.wustl.edu 37 2 1093883 1093883 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 1093883 1093883 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.212 p.R71H 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 242 0 0 110 56 33.7349 RANBP2 0 genome.wustl.edu 37 2 109400188 109400188 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109400188 109400188 A C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.9506 p.N3169T 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 138 0 0 80 61 43.2624 CCDC138 0 genome.wustl.edu 37 2 109489943 109489943 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 109489943 109489943 C A SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.1730 p.S577Y 0.316 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 85 0 0 63 25 28.4091 KCNF1 0 genome.wustl.edu 37 2 11053753 11053753 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 11053753 11053753 C T SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.1201 p.P401S 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 105 0 0 61 4 6.15385 NPHP1 0 genome.wustl.edu 37 2 110901211 110901211 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 110901211 110901211 G A SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known silent c.1605 p.G535 0.106 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 65 0 0 40 19 32.2034 BUB1 0 genome.wustl.edu 37 2 111419366 111419366 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 111419366 111419366 G A SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.1010 p.A337V 0.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 166 0 0 117 9 7.14286 BUB1 0 genome.wustl.edu 37 2 111431780 111431780 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 111431780 111431780 C A SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.108 p.E36D 0.996 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 59 0 0 42 20 32.2581 ANAPC1 0 genome.wustl.edu 37 2 112583386 112583386 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 112583386 112583386 T G SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.2672 p.E891A 0.982 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 69 0 0 50 20 28.5714 TTL 0 genome.wustl.edu 37 2 113286288 113286288 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113286288 113286288 C T SNP TTL ENST00000233336 human ensembl 74_37 +1 known silent c.1050 p.I350 0.998 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTL HGNC ENSG00000114999 137 0 0 75 35 31.8182 POLR1B 0 genome.wustl.edu 37 2 113310287 113310287 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113310287 113310287 G A SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.1166 p.R389Q 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 75 0 0 52 34 39.5349 POLR1B 0 genome.wustl.edu 37 2 113330196 113330196 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113330196 113330196 T G SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.2246 p.L749R 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 130 0 0 92 44 32.3529 CKAP2L 0 genome.wustl.edu 37 2 113513567 113513567 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113513567 113513567 C T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.1381 p.A461T 0.660 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 238 0 0 191 80 29.5203 CKAP2L 0 genome.wustl.edu 37 2 113514428 113514428 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113514428 113514428 C T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.520 p.E174K 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 57 0 0 32 25 43.8596 IL1A 0 genome.wustl.edu 37 2 113532656 113532656 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113532656 113532656 T G SNP IL1A ENST00000263339 human ensembl 74_37 -1 known missense c.804 p.E268D 0.000 superfamily_Cytokine_IL1-like pfam_IL-1_propep,pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1 - no_errors IL1A HGNC ENSG00000115008 80 0 0 46 26 36.1111 IL1B 0 genome.wustl.edu 37 2 113593779 113593779 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 113593779 113593779 C A SNP IL1B ENST00000263341 human ensembl 74_37 -1 known nonsense c.28 p.E10* 0.323 pfam_IL-1_propep pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 86 0 0 48 24 33.3333 PAX8 0 genome.wustl.edu 37 2 114002048 114002048 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 114002048 114002048 G A SNP PAX8 ENST00000429538 human ensembl 74_37 -1 known silent c.345 p.G115 0.756 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 390 0 0 179 98 35.3791 CBWD2 0 genome.wustl.edu 37 2 114210717 114210717 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 114210717 114210717 T C SNP CBWD2 ENST00000259199 human ensembl 74_37 +1 known silent c.432 p.G144 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD2 HGNC ENSG00000136682 82 0 0 63 34 35.0515 CBWD2 0 genome.wustl.edu 37 2 114220051 114220051 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 114220051 114220051 G T SNP CBWD2 ENST00000259199 human ensembl 74_37 +1 known missense c.642 p.K214N 0.052 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD2 HGNC ENSG00000136682 106 0 0 88 49 35.7664 SLC35F5 0 genome.wustl.edu 37 2 114476740 114476740 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 114476740 114476740 C T SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known missense c.1487 p.R496Q 1.000 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 69 0 0 49 20 28.9855 ACTR3 0 genome.wustl.edu 37 2 114699791 114699791 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 114699791 114699791 T C SNP ACTR3 ENST00000263238 human ensembl 74_37 +1 known missense c.713 p.L238S 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3 HGNC ENSG00000115091 42 0 0 39 18 31.5789 GREB1 0 genome.wustl.edu 37 2 11696778 11696778 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 11696778 11696778 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.38 p.R13H 0.996 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 124 0 0 78 36 31.5789 NTSR2 0 genome.wustl.edu 37 2 11800191 11800191 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 11800191 11800191 C T SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known missense c.967 p.V323I 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 110 0 0 57 30 34.4828 DDX18 0 genome.wustl.edu 37 2 118582580 118582580 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 118582580 118582580 G A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.1271 p.R424Q 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 123 0 0 82 54 39.7059 CCDC93 0 genome.wustl.edu 37 2 118766149 118766149 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 118766149 118766149 C A SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.128 p.R43I 1.000 pfam_DUF2037 pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 149 0 0 112 59 34.5029 TMEM37 0 genome.wustl.edu 37 2 120194653 120194653 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 120194653 120194653 G A SNP TMEM37 ENST00000306406 human ensembl 74_37 +1 known silent c.210 p.T70 0.000 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 132 0 0 54 15 21.7391 PTPN4 0 genome.wustl.edu 37 2 120643418 120643418 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 120643418 120643418 G A SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.635 p.R212H 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,prints_Band_41_fam pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 151 0 0 114 59 34.104 EPB41L5 0 genome.wustl.edu 37 2 120918482 120918482 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 120918482 120918482 C T SNP EPB41L5 ENST00000263713 human ensembl 74_37 +1 known missense c.1819 p.P607S 0.004 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 191 0 0 118 55 31.7919 RALB 0 genome.wustl.edu 37 2 121043651 121043651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 121043651 121043651 G A SNP RALB ENST00000474855 human ensembl 74_37 +1 known missense c.382 p.E128K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALB HGNC ENSG00000144118 79 0 0 35 23 39.6552 RALB 0 genome.wustl.edu 37 2 121047166 121047166 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 121047166 121047166 C A SNP RALB ENST00000474855 human ensembl 74_37 +1 known missense c.400 p.L134I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALB HGNC ENSG00000144118 202 0 0 146 26 15.1163 GLI2 0 genome.wustl.edu 37 2 121740439 121740439 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 121740439 121740439 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1666 p.R556C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 125 0 0 67 22 24.7191 CLASP1 0 genome.wustl.edu 37 2 122273287 122273287 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 122273287 122273287 C T SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.598 p.E200K 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 43 0 0 29 15 34.0909 CLASP1 0 genome.wustl.edu 37 2 122273335 122273335 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 122273335 122273335 G A SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known nonsense c.550 p.R184* 1.000 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 31 0 0 22 12 35.2941 SNTG2 0 genome.wustl.edu 37 2 1243521 1243521 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 1243521 1243521 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.861 p.A287 0.994 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 47 0 0 13 7 35 CNTNAP5 0 genome.wustl.edu 37 2 125204342 125204342 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 125204342 125204342 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.746 p.A249V 0.404 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 78 0 0 35 24 40.678 BIN1 0 genome.wustl.edu 37 2 127826515 127826515 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 127826515 127826515 T G SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known missense c.504 p.E168D 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 110 0 0 45 14 23.7288 CYP27C1 0 genome.wustl.edu 37 2 127953001 127953001 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 127953001 127953001 A G SNP CYP27C1 ENST00000335247 human ensembl 74_37 -1 known missense c.629 p.I210T 0.988 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27C1 HGNC ENSG00000186684 79 0 0 43 18 29.5082 ERCC3 0 genome.wustl.edu 37 2 128028934 128028934 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128028934 128028934 C T SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known silent c.1923 p.G641 0.989 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 290 0 0 164 85 34.1365 ERCC3 0 genome.wustl.edu 37 2 128051178 128051178 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128051178 128051178 A G SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known missense c.145 p.S49P 0.999 NULL pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 109 0 0 40 20 33.3333 MAP3K2 0 genome.wustl.edu 37 2 128079820 128079820 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128079820 128079820 T G SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known missense c.847 p.T283P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 58 0 0 33 21 38.8889 MYO7B 0 genome.wustl.edu 37 2 128346073 128346073 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128346073 128346073 G T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1797 p.E599D 0.082 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 107 0 0 53 22 29.3333 WDR33 0 genome.wustl.edu 37 2 128464123 128464123 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128464123 128464123 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.3785 p.R1262Q 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 145 0 0 56 36 39.1304 WDR33 0 genome.wustl.edu 37 2 128471562 128471562 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128471562 128471562 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2903 p.G968D 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 107 0 0 44 26 37.1429 TRIB2 0 genome.wustl.edu 37 2 12863671 12863671 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 12863671 12863671 G A SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known missense c.556 p.E186K 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 TRIB2 HGNC ENSG00000071575 109 0 0 44 26 37.1429 UGGT1 0 genome.wustl.edu 37 2 128878797 128878797 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128878797 128878797 G A SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.998 p.R333Q 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 126 0 0 68 29 29.8969 UGGT1 0 genome.wustl.edu 37 2 128914829 128914829 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 128914829 128914829 A C SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.2264 p.D755A 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 55 0 0 38 23 37.7049 POTEF 0 genome.wustl.edu 37 2 130832596 130832596 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 130832596 130832596 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2449 p.E817K 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 322 0 0 139 95 40.5983 SMPD4 0 genome.wustl.edu 37 2 130911999 130911999 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 130911999 130911999 A C SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.1627 p.F543V 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 27 0 0 5 6 54.5455 CFC1 0 genome.wustl.edu 37 2 131356288 131356288 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 131356288 131356288 G A SNP CFC1 ENST00000259216 human ensembl 74_37 -1 known silent c.174 p.F58 0.000 NULL pfam_Cryptic/Cripto_CFC-dom,pfscan_EG-like_dom - no_errors CFC1 HGNC ENSG00000136698 87 0 0 56 13 18.8406 GPR148 0 genome.wustl.edu 37 2 131487111 131487111 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 131487111 131487111 C T SNP GPR148 ENST00000309926 human ensembl 74_37 +1 known silent c.387 p.F129 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 64 0 0 20 15 42.8571 AMER3 0 genome.wustl.edu 37 2 131521511 131521511 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 131521511 131521511 G A SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known silent c.1866 p.S622 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 98 0 0 44 20 31.25 ARHGEF4 0 genome.wustl.edu 37 2 131796522 131796522 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 131796522 131796522 G A SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.664 p.E222K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 90 0 0 28 19 40.4255 ARHGEF4 0 genome.wustl.edu 37 2 131801887 131801887 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 131801887 131801887 G A SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.1615 p.D539N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 24 0 0 10 4 28.5714 NCKAP5 0 genome.wustl.edu 37 2 133489398 133489398 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 133489398 133489398 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.5355 p.S1785 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 122 0 0 40 22 35.4839 NCKAP5 0 genome.wustl.edu 37 2 133539768 133539768 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 133539768 133539768 A C SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4616 p.V1539G 0.323 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 109 0 0 65 28 30.1075 MGAT5 0 genome.wustl.edu 37 2 135107416 135107416 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135107416 135107416 G A SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.1153 p.E385K 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 146 1 0.680272 85 31 26.7241 ACMSD 0 genome.wustl.edu 37 2 135616864 135616864 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135616864 135616864 T G SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.136 p.F46V 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 83 0 0 50 30 37.5 MAP3K19 0 genome.wustl.edu 37 2 135738478 135738478 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135738478 135738478 T C SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.3833 p.Y1278C 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 MAP3K19 HGNC ENSG00000176601 73 0 0 35 17 32.6923 MAP3K19 0 genome.wustl.edu 37 2 135740777 135740777 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135740777 135740777 C A SNP MAP3K19 ENST00000392915 human ensembl 74_37 -1 putative missense c.3398 p.R1133I 0.000 NULL NULL - no_errors MAP3K19 HGNC ENSG00000176601 123 0 0 97 40 29.1971 MAP3K19 0 genome.wustl.edu 37 2 135741299 135741299 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135741299 135741299 C A SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known nonsense c.3169 p.E1057* 0.998 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 98 0 0 66 35 34.6535 MAP3K19 0 genome.wustl.edu 37 2 135756376 135756376 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135756376 135756376 T C SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.506 p.N169S 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 92 0 0 51 27 34.6154 RAB3GAP1 0 genome.wustl.edu 37 2 135815651 135815651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135815651 135815651 G A SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.145 p.E49K 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 40 0 0 29 14 32.5581 RAB3GAP1 0 genome.wustl.edu 37 2 135878432 135878432 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 135878432 135878432 G A SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.692 p.R231Q 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 173 0 0 112 49 30.4348 R3HDM1 0 genome.wustl.edu 37 2 136393692 136393692 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 136393692 136393692 A C SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.842 p.K281T 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 120 0 0 99 44 30.7692 THSD7B 0 genome.wustl.edu 37 2 137814328 137814328 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 137814328 137814328 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.478 p.E160K 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 228 0 0 112 74 39.7849 THSD7B 0 genome.wustl.edu 37 2 137988724 137988724 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 137988724 137988724 T C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1834 p.S612P 0.809 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 44 0 0 22 10 31.25 THSD7B 0 genome.wustl.edu 37 2 138400060 138400060 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 138400060 138400060 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known nonsense c.3811 p.R1271* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 139 1 0.714286 87 44 33.5878 SPOPL 0 genome.wustl.edu 37 2 139316695 139316695 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 139316695 139316695 A G SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known missense c.584 p.E195G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 163 0 0 104 51 32.9032 ENSG00000241772 0 genome.wustl.edu 37 2 139326757 139326757 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 139326757 139326757 A G SNP ENSG00000241772 ENST00000449869 human ensembl 74_37 +1 known rna NULL NULL 0.952 - - - no_errors AC092620.2 Clone_based_vega_gene ENSG00000241772 77 0 0 49 31 38.75 LRP1B 0 genome.wustl.edu 37 2 141027830 141027830 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141027830 141027830 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13228 p.T4410A 1.000 smart_EG-like_dom,pfscan_EG-like_dom 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 96 0 0 65 31 32.2917 LRP1B 0 genome.wustl.edu 37 2 141108514 141108514 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141108514 141108514 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.11744 p.S3915Y 1.000 superfamily_Growth_fac_rcpt_N_dom 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 122 1 0.813008 99 48 32.6531 LRP1B 0 genome.wustl.edu 37 2 141128375 141128375 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141128375 141128375 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10912 p.R3638W 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 190 0 0 97 56 36.6013 LRP1B 0 genome.wustl.edu 37 2 141143550 141143550 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141143550 141143550 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10443 p.F3481 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 145 0 0 110 43 28.1046 LRP1B 0 genome.wustl.edu 37 2 141201904 141201904 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141201904 141201904 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10289 p.D3430G 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 135 1 0.735294 94 45 32.3741 LRP1B 0 genome.wustl.edu 37 2 141245224 141245224 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141245224 141245224 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9205 p.R3069C 0.993 pfam_LDLR_classB_rpt,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 90 0 0 85 34 28.5714 LRP1B 0 genome.wustl.edu 37 2 141291621 141291621 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141291621 141291621 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.7731 p.C2577 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 85 0 0 57 34 37.3626 LRP1B 0 genome.wustl.edu 37 2 141460006 141460006 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141460006 141460006 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.6140 p.I2047T 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_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 158 0 0 79 24 23.301 LRP1B 0 genome.wustl.edu 37 2 141474372 141474372 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141474372 141474372 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.5772 p.I1924 1.000 smart_LDLR_classB_rpt,pfscan_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 104 0 0 79 5 5.95238 LRP1B 0 genome.wustl.edu 37 2 141474386 141474386 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141474386 141474386 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.5759-1 e36-1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 85 0 0 44 27 38.0282 LRP1B 0 genome.wustl.edu 37 2 141747168 141747168 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141747168 141747168 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2703 p.K901N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 154 1 0.645161 88 42 32.3077 LRP1B 0 genome.wustl.edu 37 2 141762987 141762987 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141762987 141762987 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2420 p.T807I 0.998 smart_EG-like_dom 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 79 0 0 47 31 39.7436 LRP1B 0 genome.wustl.edu 37 2 141773306 141773306 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141773306 141773306 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2149 p.D717N 1.000 smart_LDLR_classB_rpt,pfscan_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 81 0 0 44 22 33.3333 LRP1B 0 genome.wustl.edu 37 2 141812693 141812693 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141812693 141812693 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.1544 p.S515* 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom 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 68 0 0 45 20 30.7692 LRP1B 0 genome.wustl.edu 37 2 141816481 141816481 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141816481 141816481 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1379 p.R460Q 0.978 superfamily_Growth_fac_rcpt_N_dom 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 60 0 0 50 15 23.0769 LRP1B 0 genome.wustl.edu 37 2 141819833 141819833 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141819833 141819833 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1023 p.F341L 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_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 68 0 0 43 18 29.5082 LRP1B 0 genome.wustl.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 141946119 141946119 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.884 p.R295Q 1.000 pfam_LDLR_classB_rpt,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 83 0 0 42 18 30 KYNU 0 genome.wustl.edu 37 2 143676232 143676232 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 143676232 143676232 C A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.224 p.S75Y 1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 49 0 0 42 15 26.3158 ARHGAP15 0 genome.wustl.edu 37 2 143959745 143959745 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 143959745 143959745 G T SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.208 p.D70Y 0.999 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 100 0 0 93 35 27.3438 GTDC1 0 genome.wustl.edu 37 2 144899590 144899590 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 144899590 144899590 A G SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.380 p.V127A 0.051 pfam_GlycosylTrfase_1_N pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 73 0 0 53 19 26.3889 ZEB2 0 genome.wustl.edu 37 2 145147102 145147102 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 145147102 145147102 A G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.3561 p.D1187 0.835 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 325 0 0 167 88 34.5098 MBD5 0 genome.wustl.edu 37 2 149247655 149247655 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 149247655 149247655 G T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.3755 p.R1252I 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 133 0 0 69 32 31.6832 EPC2 0 genome.wustl.edu 37 2 149511500 149511500 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 149511500 149511500 T C SNP EPC2 ENST00000258484 human ensembl 74_37 +1 known missense c.464 p.V155A 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 20 0 0 5 7 58.3333 KIF5C 0 genome.wustl.edu 37 2 149840179 149840179 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 149840179 149840179 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.1615 p.L539F 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 32 0 0 39 14 26.4151 LYPD6B 0 genome.wustl.edu 37 2 150061822 150061822 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 150061822 150061822 G A SNP LYPD6B ENST00000280115 human ensembl 74_37 +1 known missense c.133 p.A45T 0.000 NULL NULL - no_errors LYPD6B HGNC ENSG00000150556 242 0 0 134 60 30.9278 RND3 0 genome.wustl.edu 37 2 151331453 151331453 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 151331453 151331453 G A SNP RND3 ENST00000263895 human ensembl 74_37 -1 known missense c.284 p.S95L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 65 0 0 41 18 30.5085 RIF1 0 genome.wustl.edu 37 2 152296636 152296636 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152296636 152296636 A C SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.1642 p.T548P 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 34 0 0 32 19 37.2549 RIF1 0 genome.wustl.edu 37 2 152308139 152308139 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152308139 152308139 G T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.2264 p.R755I 0.996 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 56 0 0 47 25 34.7222 RIF1 0 genome.wustl.edu 37 2 152320412 152320412 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152320412 152320412 G T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.4378 p.D1460Y 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 73 0 0 51 25 32.8947 NEB 0 genome.wustl.edu 37 2 152352870 152352870 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152352870 152352870 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known nonsense c.24406 p.E8136* 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 21 0 0 13 5 27.7778 NEB 0 genome.wustl.edu 37 2 152381115 152381115 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152381115 152381115 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.22288 p.D7430Y 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 268 0 0 115 54 31.9527 NEB 0 genome.wustl.edu 37 2 152382699 152382699 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152382699 152382699 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.22023 p.A7341 0.796 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 70 0 0 47 17 26.5625 NEB 0 genome.wustl.edu 37 2 152411448 152411448 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152411448 152411448 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.19425 p.I6475 0.975 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 100 0 0 55 34 38.2022 NEB 0 genome.wustl.edu 37 2 152432773 152432773 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152432773 152432773 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.16800 p.I5600 0.934 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 106 1 0.934579 68 34 33.3333 NEB 0 genome.wustl.edu 37 2 152466440 152466440 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152466440 152466440 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.12213 p.K4071N 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 131 0 0 69 45 39.4737 NEB 0 genome.wustl.edu 37 2 152474792 152474792 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152474792 152474792 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.11073 p.N3691 0.996 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 225 0 0 116 56 32.5581 NEB 0 genome.wustl.edu 37 2 152476236 152476236 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152476236 152476236 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.10601 p.H3534R 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 92 0 0 64 29 31.1828 NEB 0 genome.wustl.edu 37 2 152490194 152490194 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152490194 152490194 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9388 p.R3130W 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 235 0 0 110 63 36.4162 NEB 0 genome.wustl.edu 37 2 152492791 152492791 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152492791 152492791 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9052 p.D3018N 0.998 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 41 0 0 27 15 35.7143 NEB 0 genome.wustl.edu 37 2 152507230 152507230 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152507230 152507230 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.7085 p.D2362G 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 413 0 0 263 122 31.6883 NEB 0 genome.wustl.edu 37 2 152512918 152512918 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152512918 152512918 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.6244 p.E2082K 0.998 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 147 0 0 96 54 36 NEB 0 genome.wustl.edu 37 2 152521935 152521935 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152521935 152521935 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.5150 p.R1717H 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 55 0 0 25 15 37.5 NEB 0 genome.wustl.edu 37 2 152548380 152548380 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152548380 152548380 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.2209 p.D737Y 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 14 0 0 5 7 58.3333 NEB 0 genome.wustl.edu 37 2 152563476 152563476 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152563476 152563476 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.1071 p.G357 0.006 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 16 0 0 9 5 35.7143 CACNB4 0 genome.wustl.edu 37 2 152709980 152709980 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 152709980 152709980 T C SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known silent c.1098 p.K366 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 17 0 0 9 5 35.7143 FMNL2 0 genome.wustl.edu 37 2 153475668 153475668 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 153475668 153475668 A C SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1623 p.E541D 0.929 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 61 0 0 39 11 22 FMNL2 0 genome.wustl.edu 37 2 153486227 153486227 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 153486227 153486227 A G SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.2458 p.K820E 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 15 0 0 9 9 50 FMNL2 0 genome.wustl.edu 37 2 153488588 153488588 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 153488588 153488588 G T SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known nonsense c.2617 p.E873* 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 70 0 0 38 34 47.2222 PRPF40A 0 genome.wustl.edu 37 2 153519137 153519137 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 153519137 153519137 C A SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known missense c.2302 p.D768Y 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 16 0 0 21 6 22.2222 GALNT13 0 genome.wustl.edu 37 2 155158056 155158056 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 155158056 155158056 A C SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.1110 p.E370D 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 193 0 0 124 56 31.1111 KCNJ3 0 genome.wustl.edu 37 2 155555618 155555618 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 155555618 155555618 G A SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.331 p.D111N 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 100 0 0 51 23 31.0811 NBAS 0 genome.wustl.edu 37 2 15601451 15601451 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 15601451 15601451 A G SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.2213 p.V738A 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 95 0 0 51 24 32 GPD2 0 genome.wustl.edu 37 2 157427707 157427707 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 157427707 157427707 G A SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.1670 p.R557H 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 153 0 0 90 53 37.0629 DDX1 0 genome.wustl.edu 37 2 15768807 15768807 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 15768807 15768807 G A SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.1805 p.R602Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 51 0 0 24 15 38.4615 GALNT5 0 genome.wustl.edu 37 2 158115201 158115201 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 158115201 158115201 C T SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.607 p.P203S 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 74 0 0 50 16 24.2424 GALNT5 0 genome.wustl.edu 37 2 158142577 158142577 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 158142577 158142577 C T SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.1672 p.R558W 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 48 0 0 34 19 35.8491 PKP4 0 genome.wustl.edu 37 2 159481805 159481805 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 159481805 159481805 G A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.1019 p.R340H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 115 0 0 62 30 32.6087 TANC1 0 genome.wustl.edu 37 2 160019918 160019918 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160019918 160019918 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.807 p.C269 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 118 0 0 70 27 27.8351 BAZ2B 0 genome.wustl.edu 37 2 160193585 160193585 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160193585 160193585 A C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.5664 p.I1888M 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 159 0 0 99 43 30.2817 BAZ2B 0 genome.wustl.edu 37 2 160303396 160303396 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160303396 160303396 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.593 p.G198E 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 102 0 0 91 38 29.4574 BAZ2B 0 genome.wustl.edu 37 2 160304759 160304759 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160304759 160304759 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.496 p.E166K 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 82 0 0 64 29 31.1828 BAZ2B 0 genome.wustl.edu 37 2 160318921 160318921 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160318921 160318921 C T SNP BAZ2B ENST00000483316 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2B HGNC ENSG00000123636 65 0 0 37 14 27.451 LY75 0 genome.wustl.edu 37 2 160731976 160731976 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160731976 160731976 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known silent c.1953 p.P651 0.034 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 145 0 0 83 32 27.8261 ITGB6 0 genome.wustl.edu 37 2 160994243 160994243 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 160994243 160994243 G A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known silent c.1362 p.C454 0.080 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 61 0 0 46 27 36.9863 ITGB6 0 genome.wustl.edu 37 2 161052788 161052788 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 161052788 161052788 C A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.285 p.Q95H 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 165 0 0 132 73 35.6098 SLC4A10 0 genome.wustl.edu 37 2 162762303 162762303 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 162762303 162762303 A G SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1903 p.I635V 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 71 0 0 48 29 37.6623 SLC4A10 0 genome.wustl.edu 37 2 162804171 162804171 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 162804171 162804171 C A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.2199 p.F733L 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 156 0 0 74 45 37.8151 SLC4A10 0 genome.wustl.edu 37 2 162805661 162805661 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 162805661 162805661 C T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known nonsense c.2269 p.R757* 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 109 0 0 72 30 29.4118 GCG 0 genome.wustl.edu 37 2 163003923 163003923 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 163003923 163003923 T C SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.194 p.Y65C 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 259 0 0 168 93 35.6322 FAP 0 genome.wustl.edu 37 2 163070503 163070503 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 163070503 163070503 G A SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.947 p.S316L 0.966 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 202 0 0 187 30 13.8249 IFIH1 0 genome.wustl.edu 37 2 163134117 163134117 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 163134117 163134117 G A SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known nonsense c.1852 p.R618* 1.000 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 57 0 0 36 31 46.2687 IFIH1 0 genome.wustl.edu 37 2 163174673 163174673 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 163174673 163174673 T C SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.145 p.T49A 0.001 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 114 0 0 38 39 50.6494 KCNH7 0 genome.wustl.edu 37 2 163241450 163241450 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 163241450 163241450 C T SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known splice_site c.2711-1 e13-1 0.997 - - - no_errors KCNH7 HGNC ENSG00000184611 94 0 0 68 26 27.6596 PXDN 0 genome.wustl.edu 37 2 1647288 1647288 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 1647288 1647288 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3804 p.T1268 0.492 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 143 0 0 53 38 41.7582 PXDN 0 genome.wustl.edu 37 2 1652186 1652186 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 1652186 1652186 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3366 p.F1122 0.995 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 89 0 0 20 13 39.3939 GRB14 0 genome.wustl.edu 37 2 165378577 165378577 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165378577 165378577 C T SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known silent c.729 p.A243 0.957 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 75 0 0 75 30 28.5714 GRB14 0 genome.wustl.edu 37 2 165477817 165477817 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165477817 165477817 C A SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known missense c.3 p.M1I 0.975 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 16 0 0 14 6 30 COBLL1 0 genome.wustl.edu 37 2 165552047 165552047 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165552047 165552047 C A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.2170 p.D724Y 0.453 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 323 0 0 218 32 12.8 COBLL1 0 genome.wustl.edu 37 2 165552116 165552116 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165552116 165552116 C T SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.2101 p.A701T 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 395 0 0 245 104 29.7994 COBLL1 0 genome.wustl.edu 37 2 165584506 165584506 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165584506 165584506 C A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known nonsense c.793 p.E265* 1.000 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 95 0 0 63 33 34.375 SLC38A11 0 genome.wustl.edu 37 2 165772419 165772419 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165772419 165772419 A G SNP SLC38A11 ENST00000409149 human ensembl 74_37 -1 known missense c.514 p.S172P 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 379 0 0 227 108 32.2388 SCN3A 0 genome.wustl.edu 37 2 165947775 165947775 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165947775 165947775 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known nonsense c.4888 p.R1630* 0.995 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 177 1 0.561798 103 50 32.6797 SCN3A 0 genome.wustl.edu 37 2 165996041 165996041 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 165996041 165996041 G T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known silent c.2097 p.S699 0.742 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 88 0 0 75 30 28.5714 SCN3A 0 genome.wustl.edu 37 2 166021012 166021012 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166021012 166021012 G T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known silent c.492 p.I164 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 50 0 0 42 14 25 SCN2A 0 genome.wustl.edu 37 2 166152574 166152574 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166152574 166152574 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.241 p.L81M 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 84 0 0 57 16 21.9178 SCN2A 0 genome.wustl.edu 37 2 166198827 166198827 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166198827 166198827 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2410 p.A804T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 70 0 0 48 36 42.8571 SCN2A 0 genome.wustl.edu 37 2 166223836 166223836 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166223836 166223836 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.3630 p.F1210 0.995 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 67 0 0 50 21 29.5775 SCN2A 0 genome.wustl.edu 37 2 166245742 166245742 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166245742 166245742 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5426 p.A1809V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 195 0 0 115 57 33.1395 CSRNP3 0 genome.wustl.edu 37 2 166535407 166535407 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166535407 166535407 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.902 p.S301F 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 111 0 0 80 8 9.09091 CSRNP3 0 genome.wustl.edu 37 2 166535733 166535733 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166535733 166535733 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1228 p.L410F 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 132 0 0 90 43 32.3308 TTC21B 0 genome.wustl.edu 37 2 166767940 166767940 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166767940 166767940 T C SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known silent c.2358 p.G786 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 74 0 0 67 28 29.4737 SCN1A 0 genome.wustl.edu 37 2 166852557 166852557 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166852557 166852557 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4547 p.S1516L 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 62 0 0 68 16 19.0476 SCN1A 0 genome.wustl.edu 37 2 166870258 166870258 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166870258 166870258 G T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.3701 p.A1234D 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 91 0 0 67 17 20.2381 SCN1A 0 genome.wustl.edu 37 2 166900452 166900452 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 166900452 166900452 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.1770 p.F590 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 149 0 0 89 32 26.4463 SCN9A 0 genome.wustl.edu 37 2 167060699 167060699 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167060699 167060699 T A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.4543 p.N1515Y 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 68 0 0 53 22 29.3333 LOC101929680 0 genome.wustl.edu 37 2 167108403 167108403 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167108403 167108403 G T SNP LOC101929680 ENST00000447809 human ensembl 74_37 +1 known rna NULL NULL 0.272 - - - no_errors AC010127.3 Clone_based_vega_gene ENSG00000236107 41 0 0 15 8 34.7826 SCN9A 0 genome.wustl.edu 37 2 167141144 167141144 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167141144 167141144 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1796 p.R599H 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 99 0 0 58 25 30.1205 SCN9A 0 genome.wustl.edu 37 2 167141266 167141266 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167141266 167141266 G T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1674 p.F558L 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 41 0 0 36 16 30.7692 SCN9A 0 genome.wustl.edu 37 2 167162341 167162341 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167162341 167162341 T C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.560 p.D187G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 103 0 0 66 33 33.3333 SCN9A 0 genome.wustl.edu 37 2 167163559 167163559 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167163559 167163559 T G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.284 p.K95T 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 23 0 0 24 17 41.4634 SCN7A 0 genome.wustl.edu 37 2 167262951 167262951 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167262951 167262951 T C SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.4188 p.V1396 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 119 0 0 95 42 30.6569 SCN7A 0 genome.wustl.edu 37 2 167304120 167304120 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 167304120 167304120 A G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known splice_site c.1387+2 e10+2 0.989 - - - no_errors SCN7A HGNC ENSG00000136546 50 0 0 44 16 26.6667 FAM49A 0 genome.wustl.edu 37 2 16745275 16745275 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 16745275 16745275 C T SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known missense c.280 p.E94K 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 53 0 0 40 17 29.8246 PXDN 0 genome.wustl.edu 37 2 1680706 1680706 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 1680706 1680706 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known nonsense c.841 p.R281* 0.981 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 29 0 0 13 4 23.5294 XIRP2 0 genome.wustl.edu 37 2 168098327 168098327 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168098327 168098327 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.1083 p.S361 0.935 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 122 0 0 74 31 29.5238 XIRP2 0 genome.wustl.edu 37 2 168100110 168100110 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168100110 168100110 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.2208 p.F736 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 71 0 0 58 32 35.5556 XIRP2 0 genome.wustl.edu 37 2 168100781 168100781 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168100781 168100781 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2879 p.F960C 0.057 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 61 0 0 53 27 33.75 XIRP2 0 genome.wustl.edu 37 2 168101110 168101110 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168101110 168101110 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3208 p.F1070V 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 29 0 0 26 10 27.7778 XIRP2 0 genome.wustl.edu 37 2 168101932 168101932 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168101932 168101932 C A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.4030 p.H1344N 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 99 0 0 58 34 36.9565 XIRP2 0 genome.wustl.edu 37 2 168103654 168103654 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168103654 168103654 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5752 p.L1918F 0.843 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 66 0 0 46 21 31.3433 XIRP2 0 genome.wustl.edu 37 2 168103786 168103786 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168103786 168103786 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5884 p.T1962A 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 75 0 0 43 32 42.6667 XIRP2 0 genome.wustl.edu 37 2 168105219 168105219 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168105219 168105219 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7317 p.D2439E 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 131 0 0 97 35 26.5152 XIRP2 0 genome.wustl.edu 37 2 168105268 168105268 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 168105268 168105268 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7366 p.K2456E 0.005 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 114 0 0 87 38 30.4 SPC25 0 genome.wustl.edu 37 2 169732594 169732594 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 169732594 169732594 G A SNP SPC25 ENST00000282074 human ensembl 74_37 -1 known nonsense c.439 p.R147* 1.000 pfam_Spc25 pfam_Spc25 - no_errors SPC25 HGNC ENSG00000152253 26 0 0 19 6 24 ABCB11 0 genome.wustl.edu 37 2 169814479 169814479 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 169814479 169814479 G T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.2338 p.L780I 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 34 0 0 24 11 31.4286 ABCB11 0 genome.wustl.edu 37 2 169869801 169869801 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 169869801 169869801 T C SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.370 p.T124A 0.988 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 257 0 0 151 84 35.7447 LRP2 0 genome.wustl.edu 37 2 170011043 170011043 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 170011043 170011043 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12222 p.F4074L 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 101 0 0 62 33 34.7368 LRP2 0 genome.wustl.edu 37 2 170031797 170031797 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 170031797 170031797 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10674 p.F3558L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 99 0 0 46 35 43.2099 LRP2 0 genome.wustl.edu 37 2 170129474 170129474 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 170129474 170129474 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.2079 p.F693 0.626 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 335 1 0.297619 196 88 30.9859 KLHL23 0 genome.wustl.edu 37 2 170591738 170591738 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 170591738 170591738 G T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known nonsense c.214 p.E72* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 120 0 0 66 29 30.5263 KLHL23 0 genome.wustl.edu 37 2 170591939 170591939 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 170591939 170591939 T C SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.415 p.C139R 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 197 0 0 111 47 29.7468 MYO3B 0 genome.wustl.edu 37 2 171399458 171399458 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171399458 171399458 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.3645 p.F1215 0.014 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 MYO3B HGNC ENSG00000071909 144 0 0 88 46 34.3284 SP5 0 genome.wustl.edu 37 2 171573683 171573683 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171573683 171573683 C T SNP SP5 ENST00000375281 human ensembl 74_37 +1 known silent c.966 p.G322 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 20 0 0 13 3 18.75 SP5 0 genome.wustl.edu 37 2 171573901 171573901 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171573901 171573901 C T SNP SP5 ENST00000375281 human ensembl 74_37 +1 known missense c.1184 p.A395V 0.899 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 35 0 0 21 9 30 GAD1 0 genome.wustl.edu 37 2 171686016 171686016 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171686016 171686016 G T SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.177 p.E59D 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 144 0 0 78 32 29.0909 GAD1 0 genome.wustl.edu 37 2 171716257 171716257 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171716257 171716257 T C SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known silent c.1650 p.G550 0.996 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 53 0 0 26 13 33.3333 GORASP2 0 genome.wustl.edu 37 2 171811194 171811194 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171811194 171811194 C T SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known nonsense c.637 p.R213* 1.000 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 63 0 0 42 21 33.3333 TLK1 0 genome.wustl.edu 37 2 171863007 171863007 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 171863007 171863007 A C SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known missense c.1745 p.I582S 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 TLK1 HGNC ENSG00000198586 112 0 0 89 51 36.4286 PDK1 0 genome.wustl.edu 37 2 173423516 173423516 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 173423516 173423516 G T SNP PDK1 ENST00000282077 human ensembl 74_37 +1 known nonsense c.277 p.E93* 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC ENSG00000152256 99 0 0 58 40 40.8163 ZAK 0 genome.wustl.edu 37 2 174034590 174034590 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 174034590 174034590 C A SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.217 p.L73I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 121 0 0 79 43 35.2459 MLK7-AS1 0 genome.wustl.edu 37 2 174062850 174062850 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 174062850 174062850 C T SNP MLK7-AS1 ENST00000423106 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLK7-AS1 HGNC ENSG00000238133 112 0 0 100 41 29.078 CDCA7 0 genome.wustl.edu 37 2 174228618 174228618 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 174228618 174228618 G A SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known missense c.694 p.D232N 0.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 260 0 0 113 83 42.3469 CIR1 0 genome.wustl.edu 37 2 175243671 175243671 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 175243671 175243671 G A SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known missense c.464 p.S155L 1.000 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 149 1 0.666667 94 49 34.2657 GPR155 0 genome.wustl.edu 37 2 175333750 175333750 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 175333750 175333750 T C SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known missense c.1072 p.M358V 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 139 0 0 88 40 31.25 WIPF1 0 genome.wustl.edu 37 2 175431871 175431871 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 175431871 175431871 A C SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.1383 p.D461E 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 105 0 0 55 26 32.0988 CHRNA1 0 genome.wustl.edu 37 2 175618334 175618334 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 175618334 175618334 G A SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known silent c.750 p.F250 0.999 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 169 0 0 88 55 38.4615 CHN1 0 genome.wustl.edu 37 2 175676246 175676246 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 175676246 175676246 G A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known silent c.957 p.F319 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 29 0 0 18 8 30.7692 HOXD13 0 genome.wustl.edu 37 2 176959337 176959337 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 176959337 176959337 A G SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.911 p.D304G 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 130 0 0 43 25 36.7647 HOXD10 0 genome.wustl.edu 37 2 176973620 176973620 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 176973620 176973620 C T SNP HOXD10 ENST00000490088 human ensembl 74_37 +1 known rna NULL NULL 0.797 - - - no_errors HOXD10 HGNC ENSG00000128710 93 0 0 41 21 33.871 HOXD11 0 genome.wustl.edu 37 2 176973735 176973735 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 176973735 176973735 G A SNP HOXD11 ENST00000249504 human ensembl 74_37 +1 known silent c.882 p.E294 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD11 HGNC ENSG00000128713 145 1 0.684932 93 43 31.6176 HNRNPA3 0 genome.wustl.edu 37 2 178081278 178081278 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 178081278 178081278 G A SNP HNRNPA3 ENST00000392524 human ensembl 74_37 +1 known missense c.601 p.A201T 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA3 HGNC ENSG00000170144 121 0 0 92 45 32.8467 TTC30B 0 genome.wustl.edu 37 2 178416077 178416077 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 178416077 178416077 T G SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.1415 p.E472A 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 287 0 0 196 59 23.1373 TTC30B 0 genome.wustl.edu 37 2 178416157 178416157 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 178416157 178416157 C A SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.1335 p.K445N 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 647 0 0 466 97 17.2291 TTC30B 0 genome.wustl.edu 37 2 178416244 178416244 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 178416244 178416244 A G SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known silent c.1248 p.Y416 0.999 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 370 0 0 239 76 24.127 PDE11A 0 genome.wustl.edu 37 2 178879182 178879182 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 178879182 178879182 T C SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known silent c.918 p.R306 0.989 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 78 0 0 29 17 36.9565 PDE11A 0 genome.wustl.edu 37 2 178969129 178969129 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 178969129 178969129 T G SNP PDE11A ENST00000358450 human ensembl 74_37 -1 known missense c.62 p.K21T 0.997 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 142 0 0 81 41 33.6066 OSBPL6 0 genome.wustl.edu 37 2 179193050 179193050 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179193050 179193050 A C SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.200 p.K67T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 121 0 0 80 42 34.4262 OSBPL6 0 genome.wustl.edu 37 2 179197688 179197688 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179197688 179197688 G T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.514 p.D172Y 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 139 0 0 85 55 39.2857 OSBPL6 0 genome.wustl.edu 37 2 179236941 179236941 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179236941 179236941 T G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1388 p.I463S 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 80 0 0 45 29 39.1892 OSBPL6 0 genome.wustl.edu 37 2 179260240 179260240 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179260240 179260240 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2771 p.R924Q 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 76 0 0 50 31 38.2716 SMC6 0 genome.wustl.edu 37 2 17927099 17927099 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 17927099 17927099 T C SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.115 p.T39A 0.999 NULL superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 37 0 0 35 11 23.913 TTN 0 genome.wustl.edu 37 2 179393423 179393423 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179393423 179393423 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.99351 p.I33117 0.001 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 31 0 0 18 11 37.931 TTN 0 genome.wustl.edu 37 2 179398239 179398239 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179398239 179398239 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.95399 p.L31800* 0.990 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 102 0 0 40 17 29.8246 TTN 0 genome.wustl.edu 37 2 179418747 179418747 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179418747 179418747 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81387 p.G27129 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 174 0 0 102 31 23.3083 TTN 0 genome.wustl.edu 37 2 179427058 179427058 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179427058 179427058 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76097 p.F25366S 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 100 0 0 58 31 34.8315 TTN 0 genome.wustl.edu 37 2 179431219 179431219 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179431219 179431219 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.71936 p.R23979Q 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 203 0 0 140 54 27.8351 TTN 0 genome.wustl.edu 37 2 179433949 179433949 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179433949 179433949 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.69206 p.I23069S 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 310 0 0 205 92 30.9764 TTN 0 genome.wustl.edu 37 2 179438397 179438397 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179438397 179438397 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.64758 p.K21586N 0.906 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 325 0 0 171 86 33.463 TTN 0 genome.wustl.edu 37 2 179438979 179438979 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179438979 179438979 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.64176 p.I21392 0.596 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 81 0 0 51 19 27.1429 TTN 0 genome.wustl.edu 37 2 179442082 179442082 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179442082 179442082 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.61276 p.T20426A 0.183 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 78 0 0 51 19 27.1429 TTN 0 genome.wustl.edu 37 2 179446661 179446661 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179446661 179446661 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.58731 p.S19577 0.976 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 96 0 0 55 24 30.3797 TTN 0 genome.wustl.edu 37 2 179449185 179449185 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179449185 179449185 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.57389 p.R19130H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 88 0 0 62 25 28.7356 TTN 0 genome.wustl.edu 37 2 179469823 179469823 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179469823 179469823 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46377 p.K15459N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 186 0 0 86 43 33.3333 TTN 0 genome.wustl.edu 37 2 179485561 179485561 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179485561 179485561 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38072 p.D12691G 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,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 169 0 0 127 61 32.4468 TTN 0 genome.wustl.edu 37 2 179485594 179485594 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179485594 179485594 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38039 p.F12680C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,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 124 0 0 109 43 28.2895 TTN 0 genome.wustl.edu 37 2 179495649 179495649 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179495649 179495649 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.36332 p.R12111Q 0.998 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 81 0 0 56 20 26.3158 TTN 0 genome.wustl.edu 37 2 179496966 179496966 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179496966 179496966 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.35951 p.S11984L 0.996 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 17 0 0 21 5 19.2308 TTN 0 genome.wustl.edu 37 2 179528389 179528389 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179528389 179528389 G A SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.36497 p.A12166V 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 322 0 0 222 102 31.4815 TTN 0 genome.wustl.edu 37 2 179532032 179532032 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179532032 179532032 T C SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.35728 p.R11910G 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 16 0 0 12 5 29.4118 TTN 0 genome.wustl.edu 37 2 179547583 179547583 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179547583 179547583 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.29203 p.E9735* 0.990 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 44 0 0 44 12 21.4286 TTN 0 genome.wustl.edu 37 2 179549099 179549099 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179549099 179549099 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28948 p.L9650I 0.999 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 23 0 0 32 12 27.2727 TTN 0 genome.wustl.edu 37 2 179567308 179567308 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179567308 179567308 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.26574 p.S8858 0.997 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 179 0 0 99 52 34.4371 TTN 0 genome.wustl.edu 37 2 179569059 179569059 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179569059 179569059 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.26306 p.S8769Y 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 200 0 0 97 62 38.9937 TTN 0 genome.wustl.edu 37 2 179575894 179575894 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179575894 179575894 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.24337 p.T8113A 1.000 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 222 0 0 115 52 31.1377 TTN 0 genome.wustl.edu 37 2 179579257 179579257 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179579257 179579257 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.22512 p.V7504 0.001 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,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 37 0 0 30 17 36.1702 TTN 0 genome.wustl.edu 37 2 179581897 179581897 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179581897 179581897 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21832 p.D7278N 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 62 0 0 40 18 31.0345 TTN 0 genome.wustl.edu 37 2 179589096 179589096 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179589096 179589096 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.17274 p.I5758 0.991 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-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 72 0 0 45 7 13.4615 ENSG00000267784 0 genome.wustl.edu 37 2 179591751 179591751 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179591751 179591751 G T SNP ENSG00000267784 ENST00000590024 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors RP11-171I2.1 Clone_based_vega_gene ENSG00000267784 67 0 0 34 20 37.037 TTN 0 genome.wustl.edu 37 2 179593390 179593390 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179593390 179593390 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15531 p.D5177E 1.000 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 58 0 0 30 21 41.1765 TTN 0 genome.wustl.edu 37 2 179596150 179596150 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179596150 179596150 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13611 p.E4537 1.000 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 201 0 0 122 75 38.0711 TTN 0 genome.wustl.edu 37 2 179605416 179605416 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179605416 179605416 C T SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12031 p.E4011K 0.986 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 129 0 0 58 38 39.5833 TTN 0 genome.wustl.edu 37 2 179606118 179606118 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179606118 179606118 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11329 p.R3777C 0.152 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 237 0 0 122 81 39.9015 TTN 0 genome.wustl.edu 37 2 179606407 179606407 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179606407 179606407 A C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11040 p.I3680M 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 104 0 0 71 38 34.8624 TTN 0 genome.wustl.edu 37 2 179610839 179610839 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179610839 179610839 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.16288 p.S5430G 0.770 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 176 0 0 135 44 24.581 TTN 0 genome.wustl.edu 37 2 179613827 179613827 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179613827 179613827 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.13300 p.K4434Q 0.024 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 58 36 38.2979 TTN 0 genome.wustl.edu 37 2 179632515 179632515 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179632515 179632515 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9442 p.R3148C 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 168 0 0 110 51 31.677 TTN 0 genome.wustl.edu 37 2 179638812 179638812 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179638812 179638812 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.7083 p.G2361 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 145 1 0.684932 81 31 27.6786 TTN 0 genome.wustl.edu 37 2 179643841 179643841 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179643841 179643841 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3968 p.A1323D 1.000 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 47 0 0 40 14 25.9259 TTN 0 genome.wustl.edu 37 2 179647545 179647545 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179647545 179647545 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.3088 p.L1030 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 70 0 0 39 22 36.0656 CCDC141 0 genome.wustl.edu 37 2 179701651 179701651 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179701651 179701651 A G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.4295 p.V1432A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 69 0 0 60 21 25.9259 ZNF385B 0 genome.wustl.edu 37 2 180348096 180348096 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 180348096 180348096 C T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known silent c.573 p.T191 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 93 0 0 55 21 27.6316 CWC22 0 genome.wustl.edu 37 2 180810175 180810175 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 180810175 180810175 T C SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.2408 p.D803G 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 201 0 0 153 70 31.3901 CWC22 0 genome.wustl.edu 37 2 180846683 180846683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 180846683 180846683 G A SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.248 p.T83M 0.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 10 0 0 11 3 21.4286 ZNF804A 0 genome.wustl.edu 37 2 185801356 185801356 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 185801356 185801356 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1233 p.I411M 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 127 0 0 104 40 27.7778 FSIP2 0 genome.wustl.edu 37 2 186672851 186672851 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 186672851 186672851 A G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19085 p.D6362G 0.999 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 48 0 0 43 20 31.746 RDH14 0 genome.wustl.edu 37 2 18737024 18737024 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 18737024 18737024 G A SNP RDH14 ENST00000381249 human ensembl 74_37 -1 known silent c.444 p.C148 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH14 HGNC ENSG00000240857 182 0 0 124 51 29.1429 FAM171B 0 genome.wustl.edu 37 2 187626873 187626873 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 187626873 187626873 G A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.1804 p.E602K 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 126 0 0 46 37 44.5783 ZSWIM2 0 genome.wustl.edu 37 2 187693422 187693422 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 187693422 187693422 A G SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known silent c.1191 p.N397 0.006 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 43 0 0 40 14 25.9259 COL5A2 0 genome.wustl.edu 37 2 189899735 189899735 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 189899735 189899735 T G SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.4260 p.K1420N 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 129 0 0 86 38 30.6452 ANKAR 0 genome.wustl.edu 37 2 190602514 190602514 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 190602514 190602514 G A SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.3529 p.E1177K 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 48 0 0 31 12 27.907 ANKAR 0 genome.wustl.edu 37 2 190611312 190611312 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 190611312 190611312 A G SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.4264 p.K1422E 0.881 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 40 0 0 36 31 46.2687 ORMDL1 0 genome.wustl.edu 37 2 190647161 190647161 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 190647161 190647161 A C SNP ORMDL1 ENST00000325795 human ensembl 74_37 -1 known missense c.161 p.I54S 1.000 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL1 HGNC ENSG00000128699 41 0 0 21 14 40 GLS 0 genome.wustl.edu 37 2 191759964 191759964 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 191759964 191759964 A C SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.473 p.K158T 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 80 0 0 61 31 33.6957 GLS 0 genome.wustl.edu 37 2 191797590 191797590 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 191797590 191797590 G T SNP GLS ENST00000471443 human ensembl 74_37 +1 putative rna NULL NULL 0.975 - - - no_errors GLS HGNC ENSG00000115419 28 0 0 27 8 22.8571 MYO1B 0 genome.wustl.edu 37 2 192255065 192255065 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 192255065 192255065 C T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.1829 p.A610V 0.896 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 183 0 0 124 17 12.0567 SLC39A10 0 genome.wustl.edu 37 2 196544962 196544962 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 196544962 196544962 A C SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known missense c.196 p.K66Q 1.000 NULL pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 73 0 0 66 27 29.0323 DNAH7 0 genome.wustl.edu 37 2 196602633 196602633 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 196602633 196602633 G T SNP DNAH7 ENST00000484183 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors DNAH7 HGNC ENSG00000118997 80 0 0 32 10 23.8095 DNAH7 0 genome.wustl.edu 37 2 196722258 196722258 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 196722258 196722258 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8257 p.H2753N 1.000 superfamily_Signal_recog_particle_SRP9/14 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 100 0 0 91 6 6.18557 STK17B 0 genome.wustl.edu 37 2 197002222 197002222 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 197002222 197002222 G A SNP STK17B ENST00000263955 human ensembl 74_37 -1 known silent c.1068 p.F356 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 114 1 0.869565 86 36 29.5082 STK17B 0 genome.wustl.edu 37 2 197002332 197002332 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 197002332 197002332 A G SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.958 p.S320P 0.669 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 114 0 0 64 41 39.0476 HECW2 0 genome.wustl.edu 37 2 197105219 197105219 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 197105219 197105219 C A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.3718 p.D1240Y 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 94 0 0 70 39 35.7798 PGAP1 0 genome.wustl.edu 37 2 197729765 197729765 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 197729765 197729765 C T SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.1807 p.V603I 0.003 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 57 0 0 43 16 27.1186 ANKRD44 0 genome.wustl.edu 37 2 197986245 197986245 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 197986245 197986245 T C SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known silent c.642 p.G214 0.918 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 58 0 0 33 17 34 RFTN2 0 genome.wustl.edu 37 2 198511371 198511371 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 198511371 198511371 G T SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known silent c.159 p.V53 0.999 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 54 0 0 33 10 23.2558 RFTN2 0 genome.wustl.edu 37 2 198540074 198540074 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 198540074 198540074 C T SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known missense c.109 p.E37K 1.000 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 126 0 0 102 44 30.137 C2orf69 0 genome.wustl.edu 37 2 200789803 200789803 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 200789803 200789803 A G SNP C2orf69 ENST00000319974 human ensembl 74_37 +1 known missense c.352 p.T118A 1.000 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 33 0 0 20 18 47.3684 TYW5 0 genome.wustl.edu 37 2 200797994 200797994 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 200797994 200797994 G T SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known silent c.744 p.I248 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 127 0 0 52 39 42.8571 WDR35 0 genome.wustl.edu 37 2 20135296 20135296 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 20135296 20135296 A G SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.2516 p.L839S 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 63 0 0 49 28 36.3636 SGOL2 0 genome.wustl.edu 37 2 201436553 201436553 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 201436553 201436553 G T SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.1484 p.R495I 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 167 0 0 138 68 33.0097 AOX1 0 genome.wustl.edu 37 2 201467062 201467062 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 201467062 201467062 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.492 p.F164 1.000 superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 108 0 0 60 26 30.2326 AOX1 0 genome.wustl.edu 37 2 201477409 201477409 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 201477409 201477409 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.1341 p.V447 0.964 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 133 1 0.746269 78 35 30.9735 FZD7 0 genome.wustl.edu 37 2 202900702 202900702 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 202900702 202900702 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known silent c.1332 p.F444 0.998 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 150 1 0.662252 61 32 34.4086 BMPR2 0 genome.wustl.edu 37 2 203329536 203329536 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 203329536 203329536 G A SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known silent c.81 p.S27 0.952 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 91 0 0 69 28 28.866 WDR12 0 genome.wustl.edu 37 2 203749137 203749137 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 203749137 203749137 C T SNP WDR12 ENST00000261015 human ensembl 74_37 -1 known missense c.863 p.G288D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR12 HGNC ENSG00000138442 126 0 0 69 30 30.303 NBEAL1 0 genome.wustl.edu 37 2 204034508 204034508 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 204034508 204034508 T G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.5949 p.H1983Q 1.000 superfamily_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 85 0 0 68 27 28.4211 NBEAL1 0 genome.wustl.edu 37 2 204073897 204073897 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 204073897 204073897 T G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.7550 p.I2517S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 116 0 0 65 40 38.0952 RAPH1 0 genome.wustl.edu 37 2 204305381 204305381 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 204305381 204305381 C T SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known silent c.2688 p.Q896 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 142 0 0 72 35 32.7103 PARD3B 0 genome.wustl.edu 37 2 205978262 205978262 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 205978262 205978262 G T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.641 p.G214V 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 55 0 0 35 20 36.3636 INO80D 0 genome.wustl.edu 37 2 206870101 206870101 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 206870101 206870101 A G SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.2075 p.V692A 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 166 0 0 84 35 29.4118 EEF1B2 0 genome.wustl.edu 37 2 207026796 207026796 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 207026796 207026796 G A SNP EEF1B2 ENST00000236957 human ensembl 74_37 +1 known missense c.365 p.R122H 1.000 pfam_EF-1_beta_acid_region_euk pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC ENSG00000114942 183 0 0 143 33 18.75 GPR1 0 genome.wustl.edu 37 2 207040930 207040930 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 207040930 207040930 G T SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.1042 p.L348M 0.001 prints_GPR1_orph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 70 0 0 39 17 30.3571 ADAM23 0 genome.wustl.edu 37 2 207482393 207482393 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 207482393 207482393 C A SNP ADAM23 ENST00000374416 human ensembl 74_37 +1 known missense c.2450 p.S817Y 0.984 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 27 0 0 16 13 44.8276 DYTN 0 genome.wustl.edu 37 2 207527726 207527726 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 207527726 207527726 C T SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.1534 p.A512T 0.000 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 175 0 0 104 54 34.1772 CREB1 0 genome.wustl.edu 37 2 208442362 208442362 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 208442362 208442362 C T SNP CREB1 ENST00000432329 human ensembl 74_37 +1 known silent c.864 p.V288 0.877 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 60 0 0 40 11 21.5686 METTL21A 0 genome.wustl.edu 37 2 208478021 208478021 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 208478021 208478021 C A SNP METTL21A ENST00000406927 human ensembl 74_37 -1 known nonsense c.406 p.E136* 1.000 pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 158 0 0 87 53 37.8571 CRYGA 0 genome.wustl.edu 37 2 209025593 209025593 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 209025593 209025593 A C SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known missense c.460 p.Y154D 0.048 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 222 0 0 130 63 32.6425 MAP2 0 genome.wustl.edu 37 2 210557748 210557748 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 210557748 210557748 C A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.854 p.S285Y 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 87 0 0 52 26 33.3333 MAP2 0 genome.wustl.edu 37 2 210559824 210559824 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 210559824 210559824 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2930 p.A977V 0.001 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 115 0 0 79 30 27.5229 KANSL1L 0 genome.wustl.edu 37 2 211018339 211018339 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 211018339 211018339 C A SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.968 p.R323I 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 154 0 0 93 44 32.1168 KANSL1L 0 genome.wustl.edu 37 2 211018713 211018713 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 211018713 211018713 C A SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.594 p.K198N 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 145 0 0 97 47 32.6389 CPS1 0 genome.wustl.edu 37 2 211466941 211466941 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 211466941 211466941 A C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1741 p.K581Q 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 75 0 0 47 21 30.8824 CPS1 0 genome.wustl.edu 37 2 211471539 211471539 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 211471539 211471539 G A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.2084 p.R695H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 99 0 0 39 26 40 APOB 0 genome.wustl.edu 37 2 21225916 21225916 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21225916 21225916 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.12378 p.I4126 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 268 0 0 127 60 32.0856 APOB 0 genome.wustl.edu 37 2 21229095 21229095 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21229095 21229095 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.10645 p.N3549H 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 119 0 0 67 40 37.3832 APOB 0 genome.wustl.edu 37 2 21231795 21231795 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21231795 21231795 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.7945 p.E2649K 0.990 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 215 0 0 166 75 31.1203 APOB 0 genome.wustl.edu 37 2 21233570 21233570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21233570 21233570 A C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.6170 p.F2057C 0.995 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 135 0 0 77 42 35.2941 APOB 0 genome.wustl.edu 37 2 21235442 21235442 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21235442 21235442 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.4298 p.S1433L 0.972 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 81 0 0 52 29 35.8025 APOB 0 genome.wustl.edu 37 2 21238325 21238325 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21238325 21238325 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3425 p.S1142L 0.674 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 119 0 0 85 32 27.3504 APOB 0 genome.wustl.edu 37 2 21242777 21242777 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 21242777 21242777 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.2817 p.G939 1.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 100 0 0 51 24 32 ERBB4 0 genome.wustl.edu 37 2 212812260 212812260 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 212812260 212812260 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.316 p.R106C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 53 0 0 48 21 30.4348 ERBB4 0 genome.wustl.edu 37 2 212989563 212989563 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 212989563 212989563 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.148 p.R50C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 77 0 0 51 24 32 SPAG16 0 genome.wustl.edu 37 2 214181952 214181952 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 214181952 214181952 A C SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.408 p.L136F 0.029 NULL 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 SPAG16 HGNC ENSG00000144451 66 0 0 38 22 36.6667 ABCA12 0 genome.wustl.edu 37 2 215917230 215917230 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 215917230 215917230 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.488 p.R163Q 0.413 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 80 0 0 43 21 32.8125 FN1 0 genome.wustl.edu 37 2 216242982 216242982 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 216242982 216242982 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5626 p.A1876T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 54 0 0 33 15 31.25 FN1 0 genome.wustl.edu 37 2 216274830 216274830 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 216274830 216274830 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.1949 p.S650Y 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 34 0 0 21 9 30 MREG 0 genome.wustl.edu 37 2 216809618 216809618 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 216809618 216809618 C A SNP MREG ENST00000263268 human ensembl 74_37 -1 known nonsense c.613 p.E205* 0.598 NULL NULL - no_errors MREG HGNC ENSG00000118242 59 0 0 31 20 39.2157 MREG 0 genome.wustl.edu 37 2 216809669 216809669 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 216809669 216809669 G A SNP MREG ENST00000263268 human ensembl 74_37 -1 known nonsense c.562 p.R188* 0.683 NULL NULL - no_errors MREG HGNC ENSG00000118242 53 0 0 25 15 37.5 SMARCAL1 0 genome.wustl.edu 37 2 217279808 217279808 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 217279808 217279808 A G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known silent c.381 p.A127 0.011 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 123 0 0 62 30 32.6087 TNS1 0 genome.wustl.edu 37 2 218700848 218700848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 218700848 218700848 A G SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2719 p.S907P 0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 119 0 0 50 25 33.3333 CXCR2 0 genome.wustl.edu 37 2 218999817 218999817 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 218999817 218999817 C T SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.293 p.A98V 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 212 0 0 86 52 37.6812 CXCR2 0 genome.wustl.edu 37 2 219000231 219000231 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219000231 219000231 G A SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.707 p.R236H 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 347 0 0 190 115 37.7049 CTDSP1 0 genome.wustl.edu 37 2 219267801 219267801 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219267801 219267801 G A SNP CTDSP1 ENST00000273062 human ensembl 74_37 +1 known missense c.422 p.R141Q 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP1 HGNC ENSG00000144579 107 0 0 37 24 39.3443 USP37 0 genome.wustl.edu 37 2 219321865 219321865 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219321865 219321865 G A SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.2663 p.S888L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 35 0 0 24 15 38.4615 USP37 0 genome.wustl.edu 37 2 219341566 219341566 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219341566 219341566 T G SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.2040 p.E680D 0.998 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 56 0 0 59 10 14.4928 ZNF142 0 genome.wustl.edu 37 2 219507616 219507616 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219507616 219507616 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.3623 p.S1208L 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 173 1 0.574713 71 32 31.068 ZNF142 0 genome.wustl.edu 37 2 219509723 219509723 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219509723 219509723 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.1516 p.R506W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 108 0 0 55 24 30.3797 BCS1L 0 genome.wustl.edu 37 2 219526163 219526163 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219526163 219526163 C T SNP BCS1L ENST00000359273 human ensembl 74_37 +1 known nonsense c.355 p.R119* 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 129 0 0 61 32 34.4086 STK36 0 genome.wustl.edu 37 2 219563571 219563571 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219563571 219563571 G T SNP STK36 ENST00000295709 human ensembl 74_37 +1 known nonsense c.3304 p.E1102* 0.956 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 192 0 0 84 51 37.7778 TTLL4 0 genome.wustl.edu 37 2 219617583 219617583 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219617583 219617583 G A SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.3074 p.R1025Q 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 189 0 0 84 56 40 WNT10A 0 genome.wustl.edu 37 2 219754759 219754759 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219754759 219754759 G A SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known missense c.430 p.A144T 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 135 0 0 50 19 27.5362 CCDC108 0 genome.wustl.edu 37 2 219903158 219903158 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 219903158 219903158 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.296 p.A99V 0.002 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 89 0 0 46 19 29.2308 ATG9A 0 genome.wustl.edu 37 2 220087075 220087075 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 220087075 220087075 G A SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.1946 p.A649V 1.000 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 180 0 0 70 31 30.6931 PTPRN 0 genome.wustl.edu 37 2 220162693 220162693 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 220162693 220162693 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.1801 p.R601W 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 75 0 0 26 10 27.7778 DNPEP 0 genome.wustl.edu 37 2 220238995 220238995 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 220238995 220238995 G T SNP DNPEP ENST00000490371 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DNPEP HGNC ENSG00000123992 100 0 0 51 20 28.169 SLC4A3 0 genome.wustl.edu 37 2 220500178 220500178 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 220500178 220500178 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.2013 p.V671 0.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 56 0 0 24 19 44.186 EPHA4 0 genome.wustl.edu 37 2 222308273 222308273 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 222308273 222308273 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known nonsense c.1828 p.R610* 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 92 0 0 58 37 38.9474 EPHA4 0 genome.wustl.edu 37 2 222433473 222433473 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 222433473 222433473 C A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known nonsense c.124 p.E42* 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 41 0 0 23 7 23.3333 PAX3 0 genome.wustl.edu 37 2 223096870 223096870 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 223096870 223096870 C A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.719 p.R240I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 170 1 0.584795 99 65 39.6341 ACSL3 0 genome.wustl.edu 37 2 223783787 223783787 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 223783787 223783787 A C SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known silent c.672 p.I224 0.050 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 52 0 0 27 16 37.2093 ENSG00000234193 0 genome.wustl.edu 37 2 223784052 223784052 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 223784052 223784052 T C SNP ENSG00000234193 ENST00000446709 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC097461.4 Clone_based_vega_gene ENSG00000234193 20 0 0 6 6 50 CUL3 0 genome.wustl.edu 37 2 225378310 225378310 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 225378310 225378310 G A SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known silent c.585 p.L195 0.936 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 50 0 0 41 4 8.88889 NYAP2 0 genome.wustl.edu 37 2 226446931 226446931 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 226446931 226446931 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.798 p.A266 0.019 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 207 0 0 122 52 29.8851 IRS1 0 genome.wustl.edu 37 2 227661066 227661066 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 227661066 227661066 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.2389 p.R797C 0.999 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 329 0 0 138 54 28.125 COL4A4 0 genome.wustl.edu 37 2 227946898 227946898 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 227946898 227946898 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known silent c.1629 p.K543 0.564 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 209 0 0 109 58 34.7305 COL4A4 0 genome.wustl.edu 37 2 227946900 227946900 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 227946900 227946900 T G SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.1627 p.K543Q 0.674 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 205 0 0 109 56 33.9394 COL4A3 0 genome.wustl.edu 37 2 228163401 228163401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 228163401 228163401 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.3755 p.A1252V 0.890 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 88 0 0 53 27 33.75 COL4A3 0 genome.wustl.edu 37 2 228163523 228163523 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 228163523 228163523 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.3877 p.R1293C 0.749 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 84 0 0 59 27 31.3953 SLC19A3 0 genome.wustl.edu 37 2 228563936 228563936 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 228563936 228563936 C T SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known silent c.495 p.A165 0.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 237 0 0 152 43 22.0513 DAW1 0 genome.wustl.edu 37 2 228769707 228769707 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 228769707 228769707 G A SNP DAW1 ENST00000309931 human ensembl 74_37 +1 known silent c.711 p.G237 0.592 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DAW1 HGNC ENSG00000123977 171 0 0 89 48 35.0365 SPHKAP 0 genome.wustl.edu 37 2 228886519 228886519 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 228886519 228886519 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.605 p.D202G 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 145 0 0 97 30 23.622 SPHKAP 0 genome.wustl.edu 37 2 228886659 228886659 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 228886659 228886659 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.465 p.C155 0.995 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 64 0 0 35 28 44.4444 DNER 0 genome.wustl.edu 37 2 230253102 230253102 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 230253102 230253102 G A SNP DNER ENST00000341772 human ensembl 74_37 -1 known silent c.1734 p.C578 0.993 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 201 1 0.49505 120 48 28.5714 SLC16A14 0 genome.wustl.edu 37 2 230910719 230910719 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 230910719 230910719 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1123 p.D375N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 99 0 0 72 25 25.7732 SLC16A14 0 genome.wustl.edu 37 2 230911332 230911332 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 230911332 230911332 G A SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known silent c.510 p.F170 0.262 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 145 0 0 75 38 33.6283 SP110 0 genome.wustl.edu 37 2 231042332 231042332 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 231042332 231042332 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.1512 p.V504 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 364 0 0 207 113 35.3125 SP110 0 genome.wustl.edu 37 2 231081618 231081618 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 231081618 231081618 C T SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.25 p.E9K 0.001 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 52 0 0 28 27 49.0909 SP140L 0 genome.wustl.edu 37 2 231249977 231249977 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 231249977 231249977 A C SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.742 p.K248Q 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 102 0 0 48 28 36.8421 B3GNT7 0 genome.wustl.edu 37 2 232262514 232262514 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 232262514 232262514 T C SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known silent c.84 p.S28 0.791 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 128 1 0.775194 62 36 36.7347 NCL 0 genome.wustl.edu 37 2 232320835 232320835 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 232320835 232320835 G T SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.1718 p.T573N 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 78 0 0 45 17 27.4194 LINC00471 0 genome.wustl.edu 37 2 232373806 232373806 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 232373806 232373806 G A SNP LINC00471 ENST00000313064 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00471 HGNC ENSG00000181798 216 0 0 115 48 29.4479 CHRNG 0 genome.wustl.edu 37 2 233407646 233407646 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 233407646 233407646 C T SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.659 p.A220V 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 120 1 0.826446 49 24 32.8767 GIGYF2 0 genome.wustl.edu 37 2 233655451 233655451 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 233655451 233655451 T C SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known silent c.822 p.R274 0.851 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 277 0 0 175 87 33.2061 SAG 0 genome.wustl.edu 37 2 234217909 234217909 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234217909 234217909 C T SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.74 p.S25L 1.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 49 0 0 28 15 34.8837 SAG 0 genome.wustl.edu 37 2 234243632 234243632 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234243632 234243632 T G SNP SAG ENST00000409110 human ensembl 74_37 +1 known silent c.831 p.T277 0.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 147 0 0 72 42 36.8421 SAG 0 genome.wustl.edu 37 2 234255608 234255608 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234255608 234255608 G A SNP SAG ENST00000492629 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors SAG HGNC ENSG00000130561 18 0 0 6 6 50 USP40 0 genome.wustl.edu 37 2 234394260 234394260 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234394260 234394260 T C SNP USP40 ENST00000450966 human ensembl 74_37 -1 known missense c.3454 p.T1152A 0.144 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 37 0 0 16 9 36 UGT1A9 0 genome.wustl.edu 37 2 234580975 234580975 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234580975 234580975 A C SNP UGT1A9 ENST00000354728 human ensembl 74_37 +1 known missense c.395 p.K132T 0.024 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 107 0 0 75 38 33.6283 UGT1A9 0 genome.wustl.edu 37 2 234581149 234581149 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234581149 234581149 T C SNP UGT1A9 ENST00000354728 human ensembl 74_37 +1 known missense c.569 p.V190A 0.995 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 337 0 0 177 90 33.7079 UGT1A7 0 genome.wustl.edu 37 2 234590891 234590891 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234590891 234590891 G A SNP UGT1A7 ENST00000373426 human ensembl 74_37 +1 known missense c.308 p.R103Q 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 210 0 0 122 50 29.0698 UGT1A6 0 genome.wustl.edu 37 2 234602500 234602500 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234602500 234602500 G T SNP UGT1A6 ENST00000305139 human ensembl 74_37 +1 known missense c.850 p.D284Y 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 606 0 0 339 159 31.9277 UGT1A3 0 genome.wustl.edu 37 2 234638079 234638079 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234638079 234638079 A G SNP UGT1A3 ENST00000482026 human ensembl 74_37 +1 known missense c.307 p.T103A 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 206 0 0 114 64 35.9551 SPP2 0 genome.wustl.edu 37 2 234975882 234975882 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 234975882 234975882 G A SNP SPP2 ENST00000168148 human ensembl 74_37 +1 known missense c.514 p.E172K 0.001 pfam_Spp-24 pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC ENSG00000072080 142 0 0 104 42 28.7671 ARL4C 0 genome.wustl.edu 37 2 235404458 235404458 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 235404458 235404458 C T SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known missense c.598 p.E200K 0.023 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 128 0 0 54 19 26.0274 SH3BP4 0 genome.wustl.edu 37 2 235951091 235951091 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 235951091 235951091 C T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known nonsense c.1678 p.R560* 0.980 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 133 0 0 78 42 35 AGAP1 0 genome.wustl.edu 37 2 236659049 236659049 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 236659049 236659049 A C SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.590 p.K197T 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 216 0 0 96 50 34.2466 ASB18 0 genome.wustl.edu 37 2 237172856 237172856 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 237172856 237172856 C T SNP ASB18 ENST00000409749 human ensembl 74_37 -1 known missense c.133 p.A45T 0.993 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 49 0 0 34 20 37.037 COL6A3 0 genome.wustl.edu 37 2 238275778 238275778 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238275778 238275778 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.5052 p.N1684K 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 62 0 0 36 7 16.2791 COL6A3 0 genome.wustl.edu 37 2 238287555 238287555 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238287555 238287555 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2221 p.E741K 0.915 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 84 0 0 43 18 29.5082 COL6A3 0 genome.wustl.edu 37 2 238289942 238289942 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238289942 238289942 T G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1513 p.K505Q 0.064 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 210 0 0 127 58 31.3514 COL6A3 0 genome.wustl.edu 37 2 238303336 238303336 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238303336 238303336 C A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.603 p.E201D 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 108 0 0 65 33 33.6735 RBM44 0 genome.wustl.edu 37 2 238726139 238726139 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238726139 238726139 G T SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known nonsense c.580 p.E194* 0.986 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 19 0 0 11 15 57.6923 RBM44 0 genome.wustl.edu 37 2 238726184 238726184 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238726184 238726184 G A SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.625 p.A209T 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 36 0 0 24 13 35.1351 RBM44 0 genome.wustl.edu 37 2 238726378 238726378 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238726378 238726378 A C SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.819 p.E273D 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 40 0 0 25 12 32.4324 UBE2F 0 genome.wustl.edu 37 2 238940868 238940868 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 238940868 238940868 C T SNP UBE2F ENST00000439780 human ensembl 74_37 +1 known missense c.359 p.S120L 0.991 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2F HGNC ENSG00000184182 40 0 0 18 6 25 KLHL30 0 genome.wustl.edu 37 2 239049818 239049818 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 239049818 239049818 C T SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known silent c.423 p.F141 0.288 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 56 0 0 24 4 14.2857 HES6 0 genome.wustl.edu 37 2 239147925 239147925 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 239147925 239147925 T C SNP HES6 ENST00000409160 human ensembl 74_37 -1 known silent c.453 p.G151 0.005 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HES6 HGNC ENSG00000144485 27 0 0 15 3 16.6667 PER2 0 genome.wustl.edu 37 2 239161703 239161703 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 239161703 239161703 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known silent c.2961 p.S987 0.001 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 105 0 0 46 30 39.4737 PPP1R7 0 genome.wustl.edu 37 2 242089964 242089964 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 242089964 242089964 T C SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known splice_site c.52+2 e1+2 1.000 - - - no_errors PPP1R7 HGNC ENSG00000115685 20 0 0 12 5 29.4118 ANO7 0 genome.wustl.edu 37 2 242151518 242151518 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 242151518 242151518 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1733 p.R578H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 125 0 0 64 23 26.4368 ANO7 0 genome.wustl.edu 37 2 242163334 242163334 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 242163334 242163334 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known silent c.2709 p.T903 0.001 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 133 0 0 65 30 31.5789 FKBP1B 0 genome.wustl.edu 37 2 24285954 24285954 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 24285954 24285954 G A SNP FKBP1B ENST00000380986 human ensembl 74_37 +1 known silent c.219 p.A73 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP1B HGNC ENSG00000119782 67 0 0 40 28 41.1765 NCOA1 0 genome.wustl.edu 37 2 24888773 24888773 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 24888773 24888773 G T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.245 p.R82I 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 81 0 0 71 26 26.8041 ADCY3 0 genome.wustl.edu 37 2 25050927 25050927 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 25050927 25050927 A G SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.2276 p.V759A 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 97 0 0 30 25 45.4545 ASXL2 0 genome.wustl.edu 37 2 25965983 25965983 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 25965983 25965983 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.3223 p.R1075W 0.998 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 110 0 0 62 26 29.5455 CIB4 0 genome.wustl.edu 37 2 26804180 26804180 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 26804180 26804180 C T SNP CIB4 ENST00000403670 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors CIB4 HGNC ENSG00000157884 39 0 0 15 7 31.8182 AGBL5 0 genome.wustl.edu 37 2 27275836 27275836 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27275836 27275836 C T SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.10 p.R4C 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 75 0 0 24 21 46.6667 ABHD1 0 genome.wustl.edu 37 2 27346824 27346824 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27346824 27346824 G A SNP ABHD1 ENST00000316470 human ensembl 74_37 +1 known missense c.8 p.S3N 0.001 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD1 HGNC ENSG00000143994 101 0 0 45 23 33.8235 SLC5A6 0 genome.wustl.edu 37 2 27429798 27429798 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27429798 27429798 G A SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known nonsense c.406 p.R136* 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 364 0 0 167 101 37.6866 CAD 0 genome.wustl.edu 37 2 27447234 27447234 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27447234 27447234 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 132 0 0 72 36 33.3333 SLC30A3 0 genome.wustl.edu 37 2 27480771 27480771 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27480771 27480771 A G SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known splice_site c.578+2 e4+2 1.000 - - - no_errors SLC30A3 HGNC ENSG00000115194 36 0 0 9 6 40 TRIM54 0 genome.wustl.edu 37 2 27528963 27528963 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27528963 27528963 A G SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known missense c.985 p.I329V 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 83 0 0 38 21 35.5932 PPM1G 0 genome.wustl.edu 37 2 27604548 27604548 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27604548 27604548 C T SNP PPM1G ENST00000344034 human ensembl 74_37 -1 known missense c.1559 p.R520Q 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1G HGNC ENSG00000115241 236 0 0 123 56 31.2849 PPM1G 0 genome.wustl.edu 37 2 27608664 27608664 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27608664 27608664 C T SNP PPM1G ENST00000344034 human ensembl 74_37 -1 known missense c.359 p.R120Q 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1G HGNC ENSG00000115241 98 0 0 53 16 23.1884 NRBP1 0 genome.wustl.edu 37 2 27662758 27662758 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27662758 27662758 A G SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known silent c.1029 p.G343 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 156 0 0 76 52 40.625 IFT172 0 genome.wustl.edu 37 2 27682647 27682647 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27682647 27682647 C A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2571 p.E857D 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 347 0 0 187 85 31.25 GCKR 0 genome.wustl.edu 37 2 27745360 27745360 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27745360 27745360 G A SNP GCKR ENST00000264717 human ensembl 74_37 +1 known missense c.1606 p.E536K 0.266 NULL NULL - no_errors GCKR HGNC ENSG00000084734 149 0 0 68 52 43.3333 C2orf16 0 genome.wustl.edu 37 2 27801127 27801127 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27801127 27801127 T G SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.1688 p.V563G 0.001 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 115 0 0 62 28 31.1111 C2orf16 0 genome.wustl.edu 37 2 27802287 27802287 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27802287 27802287 A G SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.2848 p.I950V 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 93 0 0 66 28 29.7872 C2orf16 0 genome.wustl.edu 37 2 27803866 27803866 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27803866 27803866 G A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.4427 p.R1476K 0.001 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 237 0 0 119 58 32.7684 GPN1 0 genome.wustl.edu 37 2 27873033 27873033 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 27873033 27873033 C T SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.1133 p.S378L 1.000 NULL pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 59 0 0 45 12 21.0526 PLB1 0 genome.wustl.edu 37 2 28843160 28843160 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 28843160 28843160 C T SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.3311 p.S1104F 0.003 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 41 0 0 19 8 29.6296 WDR43 0 genome.wustl.edu 37 2 29152516 29152516 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29152516 29152516 G A SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known silent c.1377 p.T459 0.047 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 57 0 0 39 12 23.5294 C2orf71 0 genome.wustl.edu 37 2 29295831 29295831 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29295831 29295831 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.1297 p.P433S 0.003 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 109 0 0 59 40 40.404 C2orf71 0 genome.wustl.edu 37 2 29296217 29296217 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29296217 29296217 G T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.911 p.A304E 0.067 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 210 0 0 97 47 32.6389 CLIP4 0 genome.wustl.edu 37 2 29356672 29356672 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29356672 29356672 G A SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.519 p.S173 0.216 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 65 0 0 45 23 33.8235 CLIP4 0 genome.wustl.edu 37 2 29404458 29404458 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29404458 29404458 G A SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.1817 p.R606H 0.997 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 109 0 0 46 28 37.8378 CLIP4 0 genome.wustl.edu 37 2 29404707 29404707 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29404707 29404707 G T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.2066 p.R689I 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 160 0 0 100 46 31.5068 ALK 0 genome.wustl.edu 37 2 29754886 29754886 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 29754886 29754886 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.1049 p.S350L 0.979 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom 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 122 0 0 81 27 25 LBH 0 genome.wustl.edu 37 2 30480466 30480466 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 30480466 30480466 G A SNP LBH ENST00000395323 human ensembl 74_37 +1 known silent c.297 p.A99 0.823 pirsf_LBH pirsf_LBH,prints_LBH - no_errors LBH HGNC ENSG00000213626 58 0 0 36 17 32.0755 LCLAT1 0 genome.wustl.edu 37 2 30785083 30785083 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 30785083 30785083 G T SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known missense c.550 p.D184Y 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 76 0 0 44 22 33.3333 GALNT14 0 genome.wustl.edu 37 2 31168724 31168724 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 31168724 31168724 C A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.667 p.V223L 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 67 0 0 43 23 34.8485 XDH 0 genome.wustl.edu 37 2 31590912 31590912 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 31590912 31590912 C A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2112 p.K704N 0.973 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 188 0 0 87 46 34.5865 ENSG00000265267 0 genome.wustl.edu 37 2 32048170 32048170 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32048170 32048170 C T SNP ENSG00000265267 ENST00000580521 human ensembl 74_37 -1 novel rna NULL NULL 0.991 - - - no_errors AL121652.3 Clone_based_ensembl_gene ENSG00000265267 26 0 0 8 8 50 MEMO1 0 genome.wustl.edu 37 2 32094943 32094943 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32094943 32094943 T G SNP MEMO1 ENST00000379383 human ensembl 74_37 -1 known silent c.745 p.R249 1.000 pfam_MEMO1_fam pfam_MEMO1_fam - no_errors MEMO1 HGNC ENSG00000162959 57 0 0 55 28 33.7349 SPAST 0 genome.wustl.edu 37 2 32341202 32341202 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32341202 32341202 A C SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.1019 p.K340T 1.000 superfamily_P-loop_NTPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 65 0 0 50 21 29.5775 SLC30A6 0 genome.wustl.edu 37 2 32399179 32399179 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32399179 32399179 C T SNP SLC30A6 ENST00000282587 human ensembl 74_37 +1 known silent c.138 p.G46 0.995 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 128 0 0 80 35 30.4348 NLRC4 0 genome.wustl.edu 37 2 32475614 32475614 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32475614 32475614 T G SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.1319 p.K440T 0.999 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 94 0 0 53 27 33.75 NLRC4 0 genome.wustl.edu 37 2 32475815 32475815 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32475815 32475815 T G SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.1118 p.K373T 0.994 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 87 0 0 48 26 35.1351 YIPF4 0 genome.wustl.edu 37 2 32515614 32515614 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32515614 32515614 G T SNP YIPF4 ENST00000238831 human ensembl 74_37 +1 known nonsense c.142 p.E48* 1.000 NULL pfam_Yip1 - no_errors YIPF4 HGNC ENSG00000119820 114 0 0 80 38 32.2034 BIRC6 0 genome.wustl.edu 37 2 32640623 32640623 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32640623 32640623 A C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.2264 p.E755A 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 68 0 0 59 20 25.3165 BIRC6 0 genome.wustl.edu 37 2 32715152 32715152 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32715152 32715152 A C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.8140 p.T2714P 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 204 0 0 121 60 33.1492 BIRC6 0 genome.wustl.edu 37 2 32750029 32750029 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32750029 32750029 G T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known nonsense c.11698 p.E3900* 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 8 0 0 6 3 33.3333 BIRC6 0 genome.wustl.edu 37 2 32754810 32754810 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32754810 32754810 A C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.12013 p.T4005P 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 69 0 0 40 21 34.4262 BIRC6 0 genome.wustl.edu 37 2 32768549 32768549 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32768549 32768549 G T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.12533 p.R4178I 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 168 0 0 99 73 42.4419 BIRC6 0 genome.wustl.edu 37 2 32820140 32820140 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32820140 32820140 A C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.13541 p.K4514T 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 47 0 0 37 14 27.451 TTC27 0 genome.wustl.edu 37 2 32983575 32983575 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 32983575 32983575 A C SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.1669 p.N557H 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 64 0 0 31 20 39.2157 TTC27 0 genome.wustl.edu 37 2 33002962 33002962 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 33002962 33002962 T G SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.1694 p.F565C 1.000 pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 70 0 0 45 15 25 RASGRP3 0 genome.wustl.edu 37 2 33745024 33745024 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 33745024 33745024 G A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.179 p.R60Q 0.998 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 11 0 0 9 3 25 FEZ2 0 genome.wustl.edu 37 2 36806135 36806135 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 36806135 36806135 T C SNP FEZ2 ENST00000487282 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FEZ2 HGNC ENSG00000171055 19 0 0 11 9 45 STRN 0 genome.wustl.edu 37 2 37152306 37152306 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 37152306 37152306 A C SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.280 p.L94V 0.991 pfam_Striatin_N pfam_Striatin_N,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 STRN HGNC ENSG00000115808 118 0 0 87 32 26.8908 ALLC 0 genome.wustl.edu 37 2 3729284 3729284 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 3729284 3729284 A C SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.359 p.E120A 0.869 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 32 0 0 12 3 20 SULT6B1 0 genome.wustl.edu 37 2 37410583 37410583 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 37410583 37410583 G A SNP SULT6B1 ENST00000535679 human ensembl 74_37 -1 known silent c.387 p.F129 0.734 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 91 0 0 66 29 30.5263 NDUFAF7 0 genome.wustl.edu 37 2 37459390 37459390 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 37459390 37459390 T C SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known missense c.197 p.V66A 1.000 NULL pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 183 0 0 101 35 25.7353 NDUFAF7 0 genome.wustl.edu 37 2 37471104 37471104 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 37471104 37471104 A C SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known missense c.780 p.E260D 1.000 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 41 0 0 23 17 42.5 PRKD3 0 genome.wustl.edu 37 2 37513463 37513463 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 37513463 37513463 C T SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.767 p.R256H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 119 0 0 54 22 28.9474 PRKD3 0 genome.wustl.edu 37 2 37543449 37543449 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 37543449 37543449 A C SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known silent c.219 p.V73 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 209 0 0 137 74 35.0711 RMDN2 0 genome.wustl.edu 37 2 38178913 38178913 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 38178913 38178913 A C SNP RMDN2 ENST00000234195 human ensembl 74_37 +1 known missense c.555 p.K185N 0.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 98 0 0 72 39 35.1351 ATL2 0 genome.wustl.edu 37 2 38523628 38523628 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 38523628 38523628 A C SNP ATL2 ENST00000419554 human ensembl 74_37 -1 known missense c.1737 p.N579K 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 24 0 0 15 12 44.4444 GALM 0 genome.wustl.edu 37 2 38956751 38956751 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 38956751 38956751 C T SNP GALM ENST00000272252 human ensembl 74_37 +1 known missense c.688 p.L230F 1.000 pfam_Aldose_1/G6P_1-epimerase,superfamily_Gal_mutarotase_SF_dom pfam_Aldose_1/G6P_1-epimerase,superfamily_Gal_mutarotase_SF_dom - no_errors GALM HGNC ENSG00000143891 142 0 0 88 35 28.4553 SOS1 0 genome.wustl.edu 37 2 39281904 39281904 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 39281904 39281904 C T SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.571 p.E191K 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 141 0 0 109 51 31.875 MAP4K3 0 genome.wustl.edu 37 2 39492390 39492390 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 39492390 39492390 A C SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.2090 p.V697G 1.000 pfam_Citron,smart_Citron pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K3 HGNC ENSG00000011566 190 0 0 127 57 30.9783 SLC8A1 0 genome.wustl.edu 37 2 40405582 40405582 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 40405582 40405582 C A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1860 p.K620N 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 287 0 0 182 72 28.3465 SLC8A1 0 genome.wustl.edu 37 2 40655689 40655689 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 40655689 40655689 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1732 p.E578K 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 113 0 0 65 30 31.5789 SLC8A1 0 genome.wustl.edu 37 2 40656049 40656049 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 40656049 40656049 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1372 p.E458K 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 102 0 0 56 33 37.0787 KCNG3 0 genome.wustl.edu 37 2 42720290 42720290 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 42720290 42720290 C T SNP KCNG3 ENST00000306078 human ensembl 74_37 -1 known missense c.352 p.D118N 1.000 smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 27 0 0 18 9 33.3333 THADA 0 genome.wustl.edu 37 2 43779352 43779352 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 43779352 43779352 A C SNP THADA ENST00000405006 human ensembl 74_37 -1 known nonsense c.2801 p.L934* 0.931 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 14 0 0 19 14 42.4242 LRPPRC 0 genome.wustl.edu 37 2 44153069 44153069 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 44153069 44153069 A C SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.2768 p.L923R 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 66 0 0 42 20 32.2581 SLC3A1 0 genome.wustl.edu 37 2 44539839 44539839 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 44539839 44539839 G T SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known nonsense c.1447 p.E483* 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 83 0 0 39 22 36.0656 CAMKMT 0 genome.wustl.edu 37 2 44999207 44999207 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 44999207 44999207 A C SNP CAMKMT ENST00000378494 human ensembl 74_37 +1 known missense c.927 p.E309D 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 90 0 0 56 40 41.6667 SIX2 0 genome.wustl.edu 37 2 45235953 45235953 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 45235953 45235953 G A SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known silent c.297 p.R99 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 127 0 0 44 17 27.8689 SRBD1 0 genome.wustl.edu 37 2 45645648 45645648 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 45645648 45645648 T G SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.2189 p.K730T 1.000 superfamily_RuvA_2-like pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 104 0 0 54 41 43.1579 SRBD1 0 genome.wustl.edu 37 2 45812864 45812864 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 45812864 45812864 A G SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.698 p.I233T 0.999 pfam_Tex-like_N pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 93 0 0 89 51 36.4286 PIGF 0 genome.wustl.edu 37 2 46815305 46815305 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 46815305 46815305 C A SNP PIGF ENST00000306465 human ensembl 74_37 -1 known missense c.560 p.R187I 0.000 NULL pfam_GPI_biosynthesis_protein_Pig-F - no_errors PIGF HGNC ENSG00000151665 54 0 0 58 7 10.7692 MCFD2 0 genome.wustl.edu 37 2 47132478 47132478 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 47132478 47132478 G A SNP MCFD2 ENST00000470873 human ensembl 74_37 -1 putative rna NULL NULL 0.085 - - - no_errors MCFD2 HGNC ENSG00000180398 29 0 0 11 14 56 MSH2 0 genome.wustl.edu 37 2 47710069 47710069 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 47710069 47710069 G A SNP MSH2 ENST00000233146 human ensembl 74_37 +1 known missense c.2786 p.R929Q 0.989 pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 35 0 0 25 20 44.4444 MSH6 0 genome.wustl.edu 37 2 48026079 48026079 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 48026079 48026079 G A SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known silent c.957 p.T319 0.000 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 338 1 0.294985 211 107 33.6478 FOXN2 0 genome.wustl.edu 37 2 48573716 48573716 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 48573716 48573716 T G SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known missense c.363 p.I121M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 236 0 0 162 75 31.6456 PPP1R21 0 genome.wustl.edu 37 2 48734422 48734422 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 48734422 48734422 A C SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.1983 p.E661D 0.845 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 56 0 0 40 13 24.5283 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48809412 48809412 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 48809412 48809412 T C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1640 p.V547A 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 203 0 0 89 34 27.6423 LHCGR 0 genome.wustl.edu 37 2 48915276 48915276 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 48915276 48915276 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known nonsense c.1660 p.R554* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 111 0 0 99 37 27.2059 FSHR 0 genome.wustl.edu 37 2 49216184 49216184 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 49216184 49216184 T G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.456 p.Q152H 1.000 prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 32 0 0 27 14 34.1463 NRXN1 0 genome.wustl.edu 37 2 50464092 50464092 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 50464092 50464092 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3357 p.I1119 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 82 0 0 65 25 27.7778 NRXN1 0 genome.wustl.edu 37 2 50779867 50779867 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 50779867 50779867 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1593 p.D531E 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 140 0 0 79 49 38.2812 NRXN1 0 genome.wustl.edu 37 2 50850557 50850557 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 50850557 50850557 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.1029 p.V343 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 170 0 0 101 39 27.8571 ERLEC1 0 genome.wustl.edu 37 2 54028678 54028678 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54028678 54028678 C A SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known missense c.670 p.L224I 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 81 0 0 41 32 43.8356 PSME4 0 genome.wustl.edu 37 2 54114544 54114544 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54114544 54114544 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.4581 p.S1527 0.974 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 84 0 0 49 27 35.5263 PSME4 0 genome.wustl.edu 37 2 54117282 54117282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54117282 54117282 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.4255 p.E1419K 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 208 0 0 125 52 29.3785 PSME4 0 genome.wustl.edu 37 2 54154547 54154547 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54154547 54154547 C A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.1577 p.R526I 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 111 0 0 84 34 28.8136 PSME4 0 genome.wustl.edu 37 2 54159188 54159188 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54159188 54159188 C A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.1100 p.R367I 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 124 0 0 72 22 23.4043 ACYP2 0 genome.wustl.edu 37 2 54365782 54365782 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54365782 54365782 G T SNP ACYP2 ENST00000394666 human ensembl 74_37 +1 known nonsense c.82 p.E28* 0.999 pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase - no_errors ACYP2 HGNC ENSG00000170634 34 0 0 24 17 41.4634 SPTBN1 0 genome.wustl.edu 37 2 54839399 54839399 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54839399 54839399 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.402 p.G134 0.094 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 137 0 0 68 31 31.3131 SPTBN1 0 genome.wustl.edu 37 2 54858050 54858050 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54858050 54858050 A G SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.2866 p.S956G 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 64 0 0 20 10 33.3333 SPTBN1 0 genome.wustl.edu 37 2 54885016 54885016 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 54885016 54885016 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.6076 p.A2026T 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 103 0 0 60 20 25 CLHC1 0 genome.wustl.edu 37 2 55449628 55449628 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55449628 55449628 G A SNP CLHC1 ENST00000463300 human ensembl 74_37 -1 putative rna NULL NULL 0.014 - - - no_errors CLHC1 HGNC ENSG00000162994 33 0 0 24 14 36.8421 ENSG00000240401 0 genome.wustl.edu 37 2 55535890 55535890 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55535890 55535890 A C SNP ENSG00000240401 ENST00000366287 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012358.8 Clone_based_vega_gene ENSG00000240401 13 0 0 11 12 52.1739 CCDC88A 0 genome.wustl.edu 37 2 55546112 55546112 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55546112 55546112 G A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.3191 p.A1064V 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 91 0 0 52 23 30.6667 CCDC88A 0 genome.wustl.edu 37 2 55561360 55561360 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55561360 55561360 T C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.2597 p.N866S 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 39 0 0 50 27 35.0649 CCDC88A 0 genome.wustl.edu 37 2 55561901 55561901 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55561901 55561901 T C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.2056 p.T686A 0.941 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 46 0 0 40 12 23.0769 CCDC88A 0 genome.wustl.edu 37 2 55646259 55646259 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55646259 55646259 C T SNP CCDC88A ENST00000471947 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors CCDC88A HGNC ENSG00000115355 20 0 0 14 10 41.6667 CCDC104 0 genome.wustl.edu 37 2 55772048 55772048 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55772048 55772048 G T SNP CCDC104 ENST00000339012 human ensembl 74_37 +1 known missense c.1008 p.M336I 1.000 NULL pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 34 0 0 15 6 28.5714 SMEK2 0 genome.wustl.edu 37 2 55825627 55825627 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 55825627 55825627 A C SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known silent c.846 p.V282 1.000 pfam_DUF625,superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 110 1 0.900901 93 7 7 EFEMP1 0 genome.wustl.edu 37 2 56149545 56149545 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 56149545 56149545 T C SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.31 p.T11A 1.000 NULL pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 153 0 0 85 44 34.1085 VRK2 0 genome.wustl.edu 37 2 58386762 58386762 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 58386762 58386762 T G SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known silent c.1461 p.V487 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 80 0 0 61 28 31.4607 BCL11A 0 genome.wustl.edu 37 2 60687443 60687443 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 60687443 60687443 A C SNP BCL11A ENST00000477659 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BCL11A HGNC ENSG00000119866 30 0 0 22 12 35.2941 KIAA1841 0 genome.wustl.edu 37 2 61343163 61343163 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 61343163 61343163 A G SNP KIAA1841 ENST00000356719 human ensembl 74_37 +1 known silent c.1794 p.V598 0.906 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 100 0 0 83 32 27.8261 AHSA2 0 genome.wustl.edu 37 2 61411875 61411875 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 61411875 61411875 G A SNP AHSA2 ENST00000357022 human ensembl 74_37 +1 known silent c.15 p.T5 0.947 NULL NULL - no_errors AHSA2 HGNC ENSG00000173209 71 0 0 36 22 37.931 USP34 0 genome.wustl.edu 37 2 61439030 61439030 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 61439030 61439030 A C SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.8717 p.F2906C 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 64 0 0 34 21 38.1818 XPO1 0 genome.wustl.edu 37 2 61710173 61710173 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 61710173 61710173 C T SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.2731 p.A911T 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 91 0 0 55 34 38.2022 XPO1 0 genome.wustl.edu 37 2 61722723 61722723 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 61722723 61722723 C T SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.914 p.R305Q 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 66 0 0 46 16 25.8065 FAM161A 0 genome.wustl.edu 37 2 62067568 62067568 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 62067568 62067568 T G SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known missense c.571 p.M191L 0.000 NULL pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 168 0 0 100 40 28.5714 AFTPH 0 genome.wustl.edu 37 2 64778749 64778749 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 64778749 64778749 C T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known silent c.141 p.F47 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 213 0 0 182 32 14.9533 AFTPH 0 genome.wustl.edu 37 2 64778760 64778760 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 64778760 64778760 A G SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.152 p.D51G 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 207 0 0 132 70 34.6535 AFTPH 0 genome.wustl.edu 37 2 64778948 64778948 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 64778948 64778948 G T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known nonsense c.340 p.E114* 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 80 0 0 61 33 35.1064 AFTPH 0 genome.wustl.edu 37 2 64779504 64779504 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 64779504 64779504 T C SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.896 p.V299A 0.998 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 136 0 0 76 52 40.625 AFTPH 0 genome.wustl.edu 37 2 64794728 64794728 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 64794728 64794728 C T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known silent c.1968 p.F656 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 198 0 0 103 56 35.2201 ACTR2 0 genome.wustl.edu 37 2 65473846 65473846 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 65473846 65473846 A C SNP ACTR2 ENST00000377982 human ensembl 74_37 +1 known silent c.363 p.P121 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 127 0 0 76 45 37.1901 MEIS1 0 genome.wustl.edu 37 2 66667099 66667099 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 66667099 66667099 G A SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.364 p.A122T 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 24 0 0 14 7 33.3333 APLF 0 genome.wustl.edu 37 2 68765080 68765080 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 68765080 68765080 A G SNP APLF ENST00000303795 human ensembl 74_37 +1 known missense c.881 p.N294S 0.000 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 55 0 0 35 14 28.5714 ARHGAP25 0 genome.wustl.edu 37 2 69046560 69046560 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 69046560 69046560 G A SNP ARHGAP25 ENST00000497079 human ensembl 74_37 +1 known missense c.1288 p.V430M 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 25 0 0 7 9 56.25 BMP10 0 genome.wustl.edu 37 2 69092776 69092776 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 69092776 69092776 C T SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known missense c.1262 p.C421Y 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 178 0 0 112 35 23.8095 BMP10 0 genome.wustl.edu 37 2 69093327 69093327 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 69093327 69093327 T C SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known silent c.711 p.G237 0.986 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 99 0 0 37 18 32.7273 ANTXR1 0 genome.wustl.edu 37 2 69409700 69409700 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 69409700 69409700 C T SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.1261 p.P421S 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 124 0 0 89 38 29.9213 GFPT1 0 genome.wustl.edu 37 2 69586407 69586407 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 69586407 69586407 T G SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.401 p.K134T 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 84 0 0 53 45 45.9184 AAK1 0 genome.wustl.edu 37 2 69741737 69741737 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 69741737 69741737 C T SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.1642 p.A548T 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 10 0 0 12 3 20 GMCL1 0 genome.wustl.edu 37 2 70096947 70096947 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 70096947 70096947 C T SNP GMCL1 ENST00000282570 human ensembl 74_37 +1 known missense c.1315 p.P439S 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC ENSG00000087338 91 0 0 47 26 35.6164 MXD1 0 genome.wustl.edu 37 2 70162562 70162562 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 70162562 70162562 T C SNP MXD1 ENST00000264444 human ensembl 74_37 +1 known silent c.283 p.L95 0.043 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD1 HGNC ENSG00000059728 75 0 0 41 27 39.7059 TIA1 0 genome.wustl.edu 37 2 70441551 70441551 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 70441551 70441551 A G SNP TIA1 ENST00000433529 human ensembl 74_37 -1 known missense c.964 p.Y322H 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 80 0 0 58 20 25.641 TIA1 0 genome.wustl.edu 37 2 70444014 70444014 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 70444014 70444014 C T SNP TIA1 ENST00000416149 human ensembl 74_37 -1 putative missense c.587 p.R196K 0.998 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 370 0 0 211 112 34.6749 TIA1 0 genome.wustl.edu 37 2 70454891 70454891 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 70454891 70454891 G A SNP TIA1 ENST00000433529 human ensembl 74_37 -1 known missense c.374 p.A125V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 98 0 0 85 27 24.1071 PCYOX1 0 genome.wustl.edu 37 2 70503962 70503962 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 70503962 70503962 G A SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known missense c.956 p.R319Q 0.640 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 60 0 0 37 14 27.451 ATP6V1B1 0 genome.wustl.edu 37 2 71163176 71163176 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 71163176 71163176 G A SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.92 p.R31Q 0.997 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 99 0 0 48 36 42.8571 MPHOSPH10 0 genome.wustl.edu 37 2 71360659 71360659 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 71360659 71360659 G T SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known missense c.721 p.D241Y 0.055 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 80 0 0 78 36 31.5789 ZNF638 0 genome.wustl.edu 37 2 71607323 71607323 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 71607323 71607323 C A SNP ZNF638 ENST00000486494 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZNF638 HGNC ENSG00000075292 20 0 0 27 13 32.5 ZNF638 0 genome.wustl.edu 37 2 71653942 71653942 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 71653942 71653942 T G SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known nonsense c.4943 p.L1648* 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 91 0 0 56 26 31.7073 DYSF 0 genome.wustl.edu 37 2 71766360 71766360 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 71766360 71766360 G T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known nonsense c.1564 p.E522* 0.998 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 101 0 0 62 30 32.6087 DYSF 0 genome.wustl.edu 37 2 71797810 71797810 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 71797810 71797810 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3206 p.R1069Q 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 55 0 0 24 12 33.3333 RNF144A 0 genome.wustl.edu 37 2 7179884 7179884 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 7179884 7179884 C A SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.872 p.P291H 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 92 0 0 44 17 27.8689 CYP26B1 0 genome.wustl.edu 37 2 72359686 72359686 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 72359686 72359686 C T SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known silent c.1209 p.A403 0.112 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 62 0 0 13 12 48 EXOC6B 0 genome.wustl.edu 37 2 72742235 72742235 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 72742235 72742235 C T SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known silent c.936 p.E312 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 17 0 0 7 9 56.25 SMYD5 0 genome.wustl.edu 37 2 73449025 73449025 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73449025 73449025 A C SNP SMYD5 ENST00000389501 human ensembl 74_37 +1 known missense c.609 p.E203D 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 129 0 0 47 32 40.5063 CCT7 0 genome.wustl.edu 37 2 73477500 73477500 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73477500 73477500 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.1137 p.E379 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 204 0 0 98 42 30 ALMS1 0 genome.wustl.edu 37 2 73635812 73635812 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73635812 73635812 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.387 p.Q129H 0.285 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 77 0 0 80 12 13.0435 ALMS1 0 genome.wustl.edu 37 2 73675812 73675812 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73675812 73675812 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.2155 p.E719K 0.038 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 231 0 0 166 77 31.6872 ALMS1 0 genome.wustl.edu 37 2 73679414 73679414 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73679414 73679414 T G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.5757 p.V1919 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 99 0 0 69 27 28.125 ALMS1 0 genome.wustl.edu 37 2 73680757 73680757 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73680757 73680757 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.7100 p.S2367N 0.033 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 138 0 0 84 26 23.6364 ALMS1 0 genome.wustl.edu 37 2 73717091 73717091 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73717091 73717091 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known nonsense c.8002 p.R2668* 0.776 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 248 0 0 142 77 35.1598 ALMS1 0 genome.wustl.edu 37 2 73777441 73777441 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73777441 73777441 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.9952 p.T3318P 0.991 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 123 0 0 67 37 35.5769 ALMS1 0 genome.wustl.edu 37 2 73826650 73826650 + Splice_Site SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73826650 73826650 T G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known splice_site c.11665+2 e17+2 0.997 - - - no_errors ALMS1 HGNC ENSG00000116127 150 0 0 105 64 37.8698 NAT8 0 genome.wustl.edu 37 2 73868397 73868397 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73868397 73868397 C T SNP NAT8 ENST00000272425 human ensembl 74_37 -1 known missense c.359 p.G120D 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 142 0 0 73 39 34.8214 NAT8 0 genome.wustl.edu 37 2 73868654 73868654 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 73868654 73868654 C T SNP NAT8 ENST00000272425 human ensembl 74_37 -1 known silent c.102 p.R34 0.005 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 206 0 0 102 64 38.5542 C2orf78 0 genome.wustl.edu 37 2 74043935 74043935 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 74043935 74043935 T C SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.2585 p.V862A 0.598 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 85 0 0 46 28 37.8378 DCTN1 0 genome.wustl.edu 37 2 74594897 74594897 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 74594897 74594897 C A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known nonsense c.2110 p.E704* 1.000 pfam_Dynactin,superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 90 0 0 40 27 40.2985 DQX1 0 genome.wustl.edu 37 2 74746199 74746199 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 74746199 74746199 G T SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known nonsense c.1965 p.C655* 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 134 0 0 66 28 29.7872 AUP1 0 genome.wustl.edu 37 2 74754076 74754076 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 74754076 74754076 G A SNP AUP1 ENST00000377526 human ensembl 74_37 -1 known silent c.1188 p.Y396 0.292 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 87 0 0 84 6 6.66667 SEMA4F 0 genome.wustl.edu 37 2 74901669 74901669 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 74901669 74901669 G A SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known silent c.867 p.T289 0.568 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 138 0 0 69 47 40.5172 HK2 0 genome.wustl.edu 37 2 75113653 75113653 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 75113653 75113653 G A SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2072 p.R691H 0.985 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 124 0 0 74 32 30.1887 GCFC2 0 genome.wustl.edu 37 2 75897301 75897301 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 75897301 75897301 G A SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.2066 p.A689V 0.416 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 101 0 0 59 26 30.5882 GCFC2 0 genome.wustl.edu 37 2 75921549 75921549 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 75921549 75921549 T C SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.838 p.T280A 0.995 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 106 0 0 76 41 35.0427 SUCLG1 0 genome.wustl.edu 37 2 84676772 84676772 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 84676772 84676772 C T SNP SUCLG1 ENST00000393868 human ensembl 74_37 -1 known splice_site c.201+1 e2+1 1.000 - - - no_errors SUCLG1 HGNC ENSG00000163541 50 0 0 42 13 23.6364 DNAH6 0 genome.wustl.edu 37 2 84785047 84785047 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 84785047 84785047 T C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known silent c.1791 p.I597 0.384 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 69 0 0 62 27 30.3371 ATOH8 0 genome.wustl.edu 37 2 85981435 85981435 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 85981435 85981435 A C SNP ATOH8 ENST00000306279 human ensembl 74_37 +1 known missense c.123 p.K41N 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH8 HGNC ENSG00000168874 64 0 0 32 11 25.5814 POLR1A 0 genome.wustl.edu 37 2 86270116 86270116 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 86270116 86270116 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.3338 p.R1113H 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 160 0 0 70 30 30 RNF103 0 genome.wustl.edu 37 2 86831014 86831014 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 86831014 86831014 C T SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known silent c.2010 p.K670 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 172 0 0 90 35 28 RGPD2 0 genome.wustl.edu 37 2 88082726 88082726 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 88082726 88082726 T G SNP RGPD2 ENST00000398146 human ensembl 74_37 -1 known missense c.3817 p.N1273H 0.999 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 24 0 0 13 9 40.9091 RGPD2 0 genome.wustl.edu 37 2 88082786 88082786 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 88082786 88082786 C A SNP RGPD2 ENST00000398146 human ensembl 74_37 -1 known missense c.3757 p.D1253Y 0.881 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 10 0 0 5 4 44.4444 ANKRD36BP2 0 genome.wustl.edu 37 2 89104032 89104032 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 89104032 89104032 A G SNP ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 12 0 0 7 6 46.1538 ENSG00000240040 0 genome.wustl.edu 37 2 89111204 89111204 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 89111204 89111204 G A SNP ENSG00000240040 ENST00000452230 human ensembl 74_37 -1 known rna NULL NULL 0.457 - - - no_errors AC096579.13 Clone_based_vega_gene ENSG00000240040 44 0 0 31 10 24.3902 LOC101929518 0 genome.wustl.edu 37 2 95601102 95601102 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 95601102 95601102 T C SNP LOC101929518 ENST00000568768 human ensembl 74_37 -1 known rna NULL NULL 0.244 - - - no_errors AC097374.2 Clone_based_vega_gene ENSG00000259848 21 0 0 19 9 32.1429 MRPS5 0 genome.wustl.edu 37 2 95766633 95766633 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 95766633 95766633 T C SNP MRPS5 ENST00000272418 human ensembl 74_37 -1 known missense c.817 p.N273D 1.000 pfam_Ribosomal_S5_N,pfscan_Ribosomal_S5_N pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 22 0 0 23 14 37.8378 ZNF514 0 genome.wustl.edu 37 2 95815627 95815627 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 95815627 95815627 C A SNP ZNF514 ENST00000295208 human ensembl 74_37 -1 known missense c.603 p.K201N 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 206 1 0.483092 108 67 38.2857 ENSG00000233757 0 genome.wustl.edu 37 2 95881123 95881123 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 95881123 95881123 T C SNP ENSG00000233757 ENST00000444043 human ensembl 74_37 +1 known rna NULL NULL 0.538 - - - no_errors AC092835.2 Clone_based_vega_gene ENSG00000233757 9 0 0 3 4 57.1429 KCNIP3 0 genome.wustl.edu 37 2 96048135 96048135 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 96048135 96048135 C T SNP KCNIP3 ENST00000295225 human ensembl 74_37 +1 known missense c.566 p.A189V 1.000 pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP3 HGNC ENSG00000115041 44 0 0 11 11 50 ANKRD36C 0 genome.wustl.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 96593016 96593016 C T SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known missense c.1885 p.D629N 0.053 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 64 0 0 57 17 22.973 FAHD2CP 0 genome.wustl.edu 37 2 96687180 96687180 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 96687180 96687180 C T SNP FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors FAHD2CP HGNC ENSG00000231584 30 0 0 14 7 33.3333 ADRA2B 0 genome.wustl.edu 37 2 96781139 96781139 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 96781139 96781139 C T SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known silent c.750 p.S250 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 57 0 0 26 18 40.9091 FAHD2B 0 genome.wustl.edu 37 2 97749770 97749770 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 97749770 97749770 A C SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known missense c.797 p.F266C 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 53 0 0 30 17 36.1702 ANKRD36B 0 genome.wustl.edu 37 2 98165944 98165944 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 98165944 98165944 A G SNP ANKRD36B ENST00000443455 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD36B HGNC ENSG00000196912 16 0 0 7 6 46.1538 ZAP70 0 genome.wustl.edu 37 2 98341627 98341627 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 98341627 98341627 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.475 p.E159K 1.000 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 72 0 0 34 26 43.3333 ZAP70 0 genome.wustl.edu 37 2 98354262 98354262 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 98354262 98354262 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.1525 p.E509K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 273 1 0.364964 146 57 28.0788 TMEM131 0 genome.wustl.edu 37 2 98409193 98409193 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 98409193 98409193 G A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.3800 p.S1267L 0.181 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 73 0 0 35 21 37.5 TMEM131 0 genome.wustl.edu 37 2 98431743 98431743 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 98431743 98431743 A C SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.1211 p.F404C 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 47 0 0 41 12 22.6415 LIPT1 0 genome.wustl.edu 37 2 99779151 99779151 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 99779151 99779151 A G SNP LIPT1 ENST00000340066 human ensembl 74_37 +1 known missense c.731 p.H244R 0.009 tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 82 0 0 46 23 33.3333 LYG2 0 genome.wustl.edu 37 2 99858912 99858912 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 99858912 99858912 G A SNP LYG2 ENST00000333017 human ensembl 74_37 -1 known missense c.554 p.A185V 0.001 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 158 0 0 113 46 28.9308 LYG2 0 genome.wustl.edu 37 2 99860437 99860437 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 99860437 99860437 A G SNP LYG2 ENST00000409679 human ensembl 74_37 -1 putative missense c.545 p.V182A 0.034 NULL pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 90 0 0 60 21 25.9259 ANKEF1 0 genome.wustl.edu 37 20 10025099 10025099 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 10025099 10025099 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known nonsense c.604 p.R202* 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 176 0 0 117 52 30.7692 JAG1 0 genome.wustl.edu 37 20 10626682 10626682 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 10626682 10626682 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1936 p.D646N 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 191 0 0 95 54 36.2416 DEFB126 0 genome.wustl.edu 37 20 123301 123301 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 123301 123301 T G SNP DEFB126 ENST00000382398 human ensembl 74_37 +1 known missense c.32 p.F11C 0.002 NULL NULL - no_errors DEFB126 HGNC ENSG00000125788 321 0 0 212 102 32.4841 DEFB126 0 genome.wustl.edu 37 20 123306 123306 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 123306 123306 C T SNP DEFB126 ENST00000382398 human ensembl 74_37 +1 known missense c.37 p.L13F 0.008 NULL NULL - no_errors DEFB126 HGNC ENSG00000125788 302 0 0 204 100 32.8947 TASP1 0 genome.wustl.edu 37 20 13561609 13561609 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 13561609 13561609 C A SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known silent c.423 p.S141 0.962 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 104 0 0 59 28 32.1839 SIRPG 0 genome.wustl.edu 37 20 1629814 1629814 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 1629814 1629814 C T SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.314 p.R105H 0.969 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 231 0 0 102 45 30.6122 KIF16B 0 genome.wustl.edu 37 20 16348377 16348377 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 16348377 16348377 G T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.3593 p.S1198Y 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 33 0 0 19 8 29.6296 SNRPB2 0 genome.wustl.edu 37 20 16717945 16717945 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 16717945 16717945 A C SNP SNRPB2 ENST00000246071 human ensembl 74_37 +1 known missense c.277 p.K93Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPB2 HGNC ENSG00000125870 32 0 0 28 16 36.3636 DEFB128 0 genome.wustl.edu 37 20 168744 168744 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 168744 168744 T G SNP DEFB128 ENST00000334391 human ensembl 74_37 -1 known missense c.65 p.K22T 0.132 NULL NULL - no_errors DEFB128 HGNC ENSG00000185982 224 1 0.444444 133 74 35.7488 CSRP2BP 0 genome.wustl.edu 37 20 18142616 18142616 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 18142616 18142616 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known missense c.835 p.A279T 0.974 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 281 0 0 164 83 33.6032 POLR3F 0 genome.wustl.edu 37 20 18461089 18461089 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 18461089 18461089 G T SNP POLR3F ENST00000377603 human ensembl 74_37 +1 known missense c.617 p.R206I 1.000 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC ENSG00000132664 45 0 0 38 19 33.3333 PDYN 0 genome.wustl.edu 37 20 1961040 1961040 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 1961040 1961040 G A SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.694 p.R232C 1.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 270 0 0 126 67 34.715 ENSG00000232675 0 genome.wustl.edu 37 20 19674105 19674105 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 19674105 19674105 C A SNP ENSG00000232675 ENST00000435992 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-718D20.3 Clone_based_vega_gene ENSG00000232675 45 0 0 31 8 20.5128 NAA20 0 genome.wustl.edu 37 20 20007509 20007509 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 20007509 20007509 G A SNP NAA20 ENST00000334982 human ensembl 74_37 +1 known missense c.251 p.R84Q 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 210 0 0 124 50 28.7356 NAA20 0 genome.wustl.edu 37 20 20013155 20013155 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 20013155 20013155 G A SNP NAA20 ENST00000334982 human ensembl 74_37 +1 known silent c.309 p.K103 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 60 0 0 34 19 35.8491 C20orf26 0 genome.wustl.edu 37 20 20140041 20140041 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 20140041 20140041 G A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.979 p.E327K 0.074 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 110 0 0 83 38 31.405 C20orf26 0 genome.wustl.edu 37 20 20322485 20322485 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 20322485 20322485 G A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.3433 p.E1145K 0.981 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 68 0 0 36 14 28 DEFB129 0 genome.wustl.edu 37 20 207940 207940 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 207940 207940 T G SNP DEFB129 ENST00000246105 human ensembl 74_37 +1 known missense c.11 p.L4R 0.983 NULL NULL - no_errors DEFB129 HGNC ENSG00000125903 183 0 0 94 40 29.8507 STK35 0 genome.wustl.edu 37 20 2097735 2097735 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 2097735 2097735 C T SNP STK35 ENST00000381482 human ensembl 74_37 +1 known missense c.1316 p.A439V 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 STK35 HGNC ENSG00000125834 94 0 0 55 29 34.5238 CD93 0 genome.wustl.edu 37 20 23064997 23064997 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 23064997 23064997 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.1833 p.A611 0.104 superfamily_MFS_dom_general_subst_transpt pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 243 0 0 127 59 31.7204 CST9 0 genome.wustl.edu 37 20 23584228 23584228 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 23584228 23584228 G A SNP CST9 ENST00000376971 human ensembl 74_37 -1 known silent c.399 p.V133 0.000 NULL pfam_Prot_inh_cystat - no_errors CST9 HGNC ENSG00000173335 139 0 0 85 46 35.1145 CST3 0 genome.wustl.edu 37 20 23614628 23614628 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 23614628 23614628 G A SNP CST3 ENST00000376925 human ensembl 74_37 -1 known silent c.366 p.F122 0.863 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST3 HGNC ENSG00000101439 88 0 0 38 27 41.5385 TGM6 0 genome.wustl.edu 37 20 2377260 2377260 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 2377260 2377260 A C SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.533 p.N178T 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 51 0 0 29 4 12.1212 TGM6 0 genome.wustl.edu 37 20 2411116 2411116 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 2411116 2411116 C A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1703 p.S568Y 0.982 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 124 0 0 87 27 23.6842 VSX1 0 genome.wustl.edu 37 20 25059430 25059430 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 25059430 25059430 G A SNP VSX1 ENST00000376707 human ensembl 74_37 -1 known missense c.662 p.T221I 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VSX1 HGNC ENSG00000100987 278 0 0 174 64 26.8908 PYGB 0 genome.wustl.edu 37 20 25258996 25258996 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 25258996 25258996 C T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.897 p.F299 0.982 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 80 0 0 28 20 41.6667 TMC2 0 genome.wustl.edu 37 20 2604963 2604963 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 2604963 2604963 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2227 p.D743N 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 130 0 0 67 36 34.9515 TMC2 0 genome.wustl.edu 37 20 2605002 2605002 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 2605002 2605002 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2266 p.A756T 0.988 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 173 0 0 77 44 36.3636 NOP56 0 genome.wustl.edu 37 20 2633807 2633807 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 2633807 2633807 A C SNP NOP56 ENST00000460258 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NOP56 HGNC ENSG00000101361 59 0 0 32 14 30.4348 DEFB124 0 genome.wustl.edu 37 20 30060695 30060695 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30060695 30060695 T C SNP DEFB124 ENST00000481595 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DEFB124 HGNC ENSG00000180383 24 0 0 13 10 43.4783 REM1 0 genome.wustl.edu 37 20 30064492 30064492 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30064492 30064492 C T SNP REM1 ENST00000201979 human ensembl 74_37 +1 known missense c.244 p.R82C 1.000 pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 78 0 0 38 17 30.9091 HM13 0 genome.wustl.edu 37 20 30137889 30137889 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30137889 30137889 T G SNP HM13 ENST00000398174 human ensembl 74_37 +1 known missense c.689 p.V230G 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 296 1 0.3367 160 74 31.6239 TPX2 0 genome.wustl.edu 37 20 30366672 30366672 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30366672 30366672 G T SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.939 p.K313N 1.000 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 176 0 0 89 47 34.5588 DUSP15 0 genome.wustl.edu 37 20 30452790 30452790 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30452790 30452790 G A SNP DUSP15 ENST00000278979 human ensembl 74_37 -1 known missense c.145 p.R49C 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC ENSG00000149599 125 0 0 41 30 42.2535 TTLL9 0 genome.wustl.edu 37 20 30510818 30510818 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30510818 30510818 T C SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.626 p.V209A 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 124 0 0 59 42 41.5842 TTLL9 0 genome.wustl.edu 37 20 30522582 30522582 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30522582 30522582 G A SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.895 p.D299N 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 149 0 0 79 38 32.4786 TTLL9 0 genome.wustl.edu 37 20 30526969 30526969 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30526969 30526969 C T SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known silent c.1143 p.V381 0.774 NULL pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 110 0 0 63 24 27.5862 PDRG1 0 genome.wustl.edu 37 20 30538170 30538170 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30538170 30538170 T G SNP PDRG1 ENST00000202017 human ensembl 74_37 -1 known missense c.108 p.K36N 0.998 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 116 0 0 58 21 26.5823 KIF3B 0 genome.wustl.edu 37 20 30919089 30919089 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 30919089 30919089 T G SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known silent c.2211 p.L737 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 100 0 0 62 18 22.5 FASTKD5 0 genome.wustl.edu 37 20 3127807 3127807 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 3127807 3127807 T G SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known missense c.1910 p.K637T 0.759 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 168 0 0 59 31 34.4444 COMMD7 0 genome.wustl.edu 37 20 31292274 31292274 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31292274 31292274 C T SNP COMMD7 ENST00000278980 human ensembl 74_37 -1 known missense c.445 p.E149K 0.990 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 22 0 0 12 5 29.4118 BPIFB3 0 genome.wustl.edu 37 20 31652621 31652621 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31652621 31652621 C T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.894 p.G298 0.878 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 83 0 0 47 18 27.6923 BPIFB3 0 genome.wustl.edu 37 20 31656729 31656729 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31656729 31656729 C T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.1099 p.L367 0.132 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 114 0 0 45 22 32.8358 BPIFA2 0 genome.wustl.edu 37 20 31756955 31756955 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31756955 31756955 C A SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.4 p.L2I 0.965 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 201 0 0 113 63 35.7955 BPIFA2 0 genome.wustl.edu 37 20 31760789 31760789 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31760789 31760789 C T SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.209 p.A70V 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 107 0 0 45 17 27.4194 BPIFA1 0 genome.wustl.edu 37 20 31829266 31829266 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31829266 31829266 T G SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known silent c.657 p.V219 0.053 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 301 0 0 128 85 39.9061 BPIFB1 0 genome.wustl.edu 37 20 31879790 31879790 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 31879790 31879790 A G SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.593 p.N198S 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 119 0 0 47 23 32.8571 SLC4A11 0 genome.wustl.edu 37 20 3211414 3211414 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 3211414 3211414 G T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.1375 p.L459M 0.914 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 89 0 0 29 22 43.1373 ACTL10 0 genome.wustl.edu 37 20 32255772 32255772 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 32255772 32255772 A G SNP ACTL10 ENST00000330271 human ensembl 74_37 +1 putative missense c.469 p.T157A 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTL10 HGNC ENSG00000182584 9 0 0 6 3 33.3333 ZNF341 0 genome.wustl.edu 37 20 32371624 32371624 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 32371624 32371624 C A SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.1806 p.F602L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 120 0 0 58 35 37.6344 RALY 0 genome.wustl.edu 37 20 32660006 32660006 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 32660006 32660006 C T SNP RALY ENST00000246194 human ensembl 74_37 +1 known silent c.126 p.F42 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 128 0 0 75 15 16.6667 EIF2S2 0 genome.wustl.edu 37 20 32677684 32677684 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 32677684 32677684 C T SNP EIF2S2 ENST00000374980 human ensembl 74_37 -1 known missense c.854 p.R285Q 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 155 0 0 86 37 30.0813 C20orf194 0 genome.wustl.edu 37 20 3274887 3274887 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 3274887 3274887 G A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.2136 p.F712 0.166 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 73 0 0 37 25 40.3226 C20orf194 0 genome.wustl.edu 37 20 3306889 3306889 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 3306889 3306889 A C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.1143 p.V381 0.993 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 99 0 0 61 26 29.8851 C20orf194 0 genome.wustl.edu 37 20 3340185 3340185 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 3340185 3340185 G T SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.668 p.S223Y 0.997 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 71 0 0 47 30 38.961 GSS 0 genome.wustl.edu 37 20 33516680 33516680 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 33516680 33516680 C T SNP GSS ENST00000216951 human ensembl 74_37 -1 known missense c.1376 p.G459D 1.000 pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_dom,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk - no_errors GSS HGNC ENSG00000100983 109 0 0 41 31 43.0556 EDEM2 0 genome.wustl.edu 37 20 33703611 33703611 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 33703611 33703611 G A SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known silent c.1362 p.F454 0.651 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 95 0 0 49 26 34.6667 EIF6 0 genome.wustl.edu 37 20 33868540 33868540 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 33868540 33868540 G A SNP EIF6 ENST00000374436 human ensembl 74_37 -1 known missense c.286 p.R96W 1.000 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 - no_errors EIF6 HGNC ENSG00000242372 45 0 0 21 15 41.6667 CEP250 0 genome.wustl.edu 37 20 34054861 34054861 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34054861 34054861 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.563 p.R188Q 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 86 0 0 50 36 41.8605 CEP250 0 genome.wustl.edu 37 20 34099337 34099337 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34099337 34099337 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.7211 p.A2404V 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 72 0 0 43 19 30.6452 SPAG4 0 genome.wustl.edu 37 20 34206049 34206049 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34206049 34206049 G A SNP SPAG4 ENST00000374273 human ensembl 74_37 +1 known silent c.579 p.E193 0.997 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 45 0 0 25 11 30.5556 CPNE1 0 genome.wustl.edu 37 20 34220780 34220780 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34220780 34220780 G A SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.81 p.I27 0.925 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 141 0 0 64 35 35.3535 RBM12 0 genome.wustl.edu 37 20 34241148 34241148 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34241148 34241148 A G SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known silent c.2097 p.S699 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 144 0 0 89 36 28.8 RBM39 0 genome.wustl.edu 37 20 34292287 34292287 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34292287 34292287 T G SNP RBM39 ENST00000476806 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RBM39 HGNC ENSG00000131051 21 0 0 14 3 17.6471 RBM39 0 genome.wustl.edu 37 20 34297096 34297096 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 34297096 34297096 T G SNP RBM39 ENST00000475651 human ensembl 74_37 -1 putative rna NULL NULL 0.059 - - - no_errors RBM39 HGNC ENSG00000131051 54 0 0 42 14 25 SOGA1 0 genome.wustl.edu 37 20 35437145 35437145 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 35437145 35437145 A C SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.2585 p.L862R 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 10 0 0 9 9 50 SAMHD1 0 genome.wustl.edu 37 20 35539642 35539642 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 35539642 35539642 C A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known nonsense c.1249 p.E417* 1.000 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 118 0 0 71 57 44.5312 TTI1 0 genome.wustl.edu 37 20 36641180 36641180 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 36641180 36641180 T G SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.1039 p.I347L 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 224 0 0 112 72 39.1304 TGM2 0 genome.wustl.edu 37 20 36758717 36758717 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 36758717 36758717 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.1968 p.P656 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 19 0 0 10 3 23.0769 SIGLEC1 0 genome.wustl.edu 37 20 3677393 3677393 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 3677393 3677393 A G SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.2523 p.G841 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 121 0 0 65 22 25.2874 BPI 0 genome.wustl.edu 37 20 36932692 36932692 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 36932692 36932692 G A SNP BPI ENST00000262865 human ensembl 74_37 +1 known missense c.79 p.A27T 0.016 NULL pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 105 0 0 55 34 38.2022 RALGAPB 0 genome.wustl.edu 37 20 37174905 37174905 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 37174905 37174905 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.2734 p.A912T 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 132 0 0 59 44 42.7184 ACTR5 0 genome.wustl.edu 37 20 37383680 37383680 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 37383680 37383680 G A SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.856 p.G286S 0.995 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 95 0 0 45 25 35.7143 DHX35 0 genome.wustl.edu 37 20 37632517 37632517 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 37632517 37632517 A C SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.978 p.K326N 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 185 0 0 102 65 38.9222 DHX35 0 genome.wustl.edu 37 20 37647465 37647465 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 37647465 37647465 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.1421 p.R474H 0.895 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 212 0 0 123 74 37.5635 DHX35 0 genome.wustl.edu 37 20 37652368 37652368 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 37652368 37652368 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1629 p.G543 0.977 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 103 0 0 48 26 35.1351 TOP1 0 genome.wustl.edu 37 20 39709828 39709828 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 39709828 39709828 T A SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.455 p.I152N 1.000 NULL pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 51 0 0 46 22 32.3529 ZHX3 0 genome.wustl.edu 37 20 39833469 39833469 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 39833469 39833469 C T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.88 p.A30T 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 99 0 0 48 25 34.2466 LPIN3 0 genome.wustl.edu 37 20 39978806 39978806 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 39978806 39978806 G A SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.871 p.V291M 0.205 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 33 0 0 26 14 35 LPIN3 0 genome.wustl.edu 37 20 39986541 39986541 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 39986541 39986541 T G SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.2059 p.Y687D 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 114 0 0 51 27 34.6154 EMILIN3 0 genome.wustl.edu 37 20 39991292 39991292 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 39991292 39991292 C T SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.917 p.R306Q 0.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 46 0 0 12 12 50 PTPRT 0 genome.wustl.edu 37 20 40713337 40713337 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 40713337 40713337 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.4178 p.T1393I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 46 0 0 28 8 22.2222 PTPRT 0 genome.wustl.edu 37 20 40911144 40911144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 40911144 40911144 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2161 p.R721C 0.969 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 111 0 0 79 31 28.1818 PTPRT 0 genome.wustl.edu 37 20 41306583 41306583 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 41306583 41306583 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1076 p.R359Q 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 152 0 0 90 57 38.7755 MYBL2 0 genome.wustl.edu 37 20 42331534 42331534 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 42331534 42331534 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.1356 p.S452 0.088 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 101 0 0 48 16 25 TOX2 0 genome.wustl.edu 37 20 42680169 42680169 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 42680169 42680169 C T SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.635 p.S212L 0.982 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 78 0 0 33 14 29.7872 HNF4A 0 genome.wustl.edu 37 20 43057088 43057088 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 43057088 43057088 G A SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.1243 p.G415R 1.000 NULL 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_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 52 0 0 35 11 23.913 RBPJL 0 genome.wustl.edu 37 20 43940866 43940866 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 43940866 43940866 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known silent c.450 p.F150 0.997 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 112 0 0 40 23 36.5079 TP53TG5 0 genome.wustl.edu 37 20 44003970 44003970 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 44003970 44003970 A C SNP TP53TG5 ENST00000372726 human ensembl 74_37 -1 known silent c.477 p.V159 0.004 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 273 0 0 182 12 6.18557 WFDC8 0 genome.wustl.edu 37 20 44180804 44180804 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 44180804 44180804 A C SNP WFDC8 ENST00000289953 human ensembl 74_37 -1 known missense c.587 p.V196G 0.120 superfamily_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_WAP-type_4-diS_core - no_errors WFDC8 HGNC ENSG00000158901 110 0 0 75 28 27.1845 WFDC10A 0 genome.wustl.edu 37 20 44259601 44259601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 44259601 44259601 G A SNP WFDC10A ENST00000372643 human ensembl 74_37 +1 known missense c.184 p.A62T 1.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core - no_errors WFDC10A HGNC ENSG00000180305 66 0 0 52 16 23.5294 ZSWIM1 0 genome.wustl.edu 37 20 44512035 44512035 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 44512035 44512035 C A SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known missense c.804 p.F268L 1.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 196 0 0 80 39 32.7731 PCIF1 0 genome.wustl.edu 37 20 44569552 44569552 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 44569552 44569552 G A SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known silent c.492 p.Q164 1.000 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 154 0 0 89 39 30.4688 ZNF334 0 genome.wustl.edu 37 20 45129982 45129982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 45129982 45129982 G A SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1996 p.R666C 0.174 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 ZNF334 HGNC ENSG00000198185 104 0 0 89 47 34.5588 ZNF334 0 genome.wustl.edu 37 20 45131024 45131024 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 45131024 45131024 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known silent c.954 p.E318 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 217 0 0 124 59 32.2404 ZMYND8 0 genome.wustl.edu 37 20 45912344 45912344 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 45912344 45912344 T G SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.874 p.K292Q 1.000 superfamily_Bromodomain pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 62 0 0 35 23 39.6552 NCOA3 0 genome.wustl.edu 37 20 46264088 46264088 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 46264088 46264088 A G SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.1135 p.N379D 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 115 0 0 57 21 26.9231 PRND 0 genome.wustl.edu 37 20 4705395 4705395 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 4705395 4705395 C T SNP PRND ENST00000305817 human ensembl 74_37 +1 known silent c.198 p.L66 0.000 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 64 0 0 22 20 47.619 ARFGEF2 0 genome.wustl.edu 37 20 47588912 47588912 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 47588912 47588912 C A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1475 p.S492Y 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 89 0 0 49 26 34.6667 STAU1 0 genome.wustl.edu 37 20 47734395 47734395 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 47734395 47734395 G T SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known silent c.1428 p.I476 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 157 0 0 80 55 40.7407 STAU1 0 genome.wustl.edu 37 20 47782660 47782660 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 47782660 47782660 G A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.79 p.L27F 0.997 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 165 0 0 86 40 31.746 DDX27 0 genome.wustl.edu 37 20 47851485 47851485 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 47851485 47851485 G T SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known missense c.1380 p.R460S 0.964 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 76 0 0 42 14 25 ZNFX1 0 genome.wustl.edu 37 20 47886956 47886956 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 47886956 47886956 G T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.1393 p.L465I 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 241 0 0 118 58 32.9545 CSNK2A1 0 genome.wustl.edu 37 20 480539 480539 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 480539 480539 A C SNP CSNK2A1 ENST00000217244 human ensembl 74_37 -1 known missense c.253 p.L85V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A1 HGNC ENSG00000101266 226 0 0 122 65 34.7594 KCNG1 0 genome.wustl.edu 37 20 49626348 49626348 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 49626348 49626348 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.528 p.F176 0.996 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 130 0 0 57 30 34.4828 KCNG1 0 genome.wustl.edu 37 20 49626531 49626531 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 49626531 49626531 G T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.345 p.F115L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 70 0 0 29 24 45.283 ZNF217 0 genome.wustl.edu 37 20 52199171 52199171 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 52199171 52199171 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.195 p.L65 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 199 0 0 114 59 34.104 CYP24A1 0 genome.wustl.edu 37 20 52773812 52773812 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 52773812 52773812 T C SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.1451 p.D484G 0.053 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 45 0 0 20 11 35.4839 DOK5 0 genome.wustl.edu 37 20 53171512 53171512 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 53171512 53171512 G A SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known missense c.107 p.S36N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 65 0 0 41 21 33.871 CASS4 0 genome.wustl.edu 37 20 55027827 55027827 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 55027827 55027827 A G SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.1595 p.E532G 0.770 pfam_Serine_rich pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 93 0 0 52 25 32.4675 FAM209B 0 genome.wustl.edu 37 20 55108530 55108530 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 55108530 55108530 C T SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known missense c.133 p.R45W 0.071 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 226 0 0 100 59 37.1069 FAM209B 0 genome.wustl.edu 37 20 55108640 55108640 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 55108640 55108640 G T SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known missense c.243 p.K81N 0.415 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 168 0 0 86 38 30.6452 BMP7 0 genome.wustl.edu 37 20 55758796 55758796 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 55758796 55758796 G A SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.940 p.R314W 0.982 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 128 0 0 60 34 36.1702 BMP7 0 genome.wustl.edu 37 20 55840835 55840835 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 55840835 55840835 C T SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.344 p.G115D 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 26 0 0 11 8 42.1053 SPO11 0 genome.wustl.edu 37 20 55904928 55904928 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 55904928 55904928 C T SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 pfam_Meiosis_Spo11,prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 64 0 0 23 15 39.4737 PCK1 0 genome.wustl.edu 37 20 56139347 56139347 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 56139347 56139347 G A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.1084 p.E362K 0.987 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 118 0 0 50 23 31.5068 GNAS 0 genome.wustl.edu 37 20 57428544 57428544 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 57428544 57428544 G T SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.224 p.R75I 0.001 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 41 0 0 23 18 43.9024 GNAS 0 genome.wustl.edu 37 20 57429085 57429085 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 57429085 57429085 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.575 p.S192L 0.000 NULL NULL - no_errors GNAS HGNC ENSG00000087460 35 0 0 10 6 37.5 NELFCD 0 genome.wustl.edu 37 20 57568761 57568761 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 57568761 57568761 G A SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.1577 p.R526Q 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 175 0 0 80 52 39.3939 PHACTR3 0 genome.wustl.edu 37 20 58411601 58411601 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 58411601 58411601 G T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.1370 p.R457I 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 52 0 0 43 20 31.746 SYCP2 0 genome.wustl.edu 37 20 58452530 58452530 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 58452530 58452530 T G SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.3060 p.K1020N 0.001 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 45 0 0 46 25 35.2113 SYCP2 0 genome.wustl.edu 37 20 58467111 58467111 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 58467111 58467111 A G SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known silent c.2298 p.S766 0.001 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 59 0 0 55 22 28.5714 SYCP2 0 genome.wustl.edu 37 20 58476794 58476794 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 58476794 58476794 C A SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known nonsense c.1105 p.E369* 0.439 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 65 0 0 56 19 25.3333 CDH26 0 genome.wustl.edu 37 20 58544061 58544061 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 58544061 58544061 C A SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.109 p.L37I 0.001 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 69 0 0 60 36 37.5 CHGB 0 genome.wustl.edu 37 20 5904101 5904101 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 5904101 5904101 G T SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.1311 p.E437D 0.815 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 173 0 0 92 39 29.771 MCM8 0 genome.wustl.edu 37 20 5943947 5943947 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 5943947 5943947 T C SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.817 p.S273P 0.999 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 96 0 0 51 32 38.5542 CDH4 0 genome.wustl.edu 37 20 60503305 60503305 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 60503305 60503305 A G SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1829 p.D610G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 358 0 0 154 64 29.3578 SLCO4A1 0 genome.wustl.edu 37 20 61299452 61299452 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 61299452 61299452 G T SNP SLCO4A1 ENST00000497209 human ensembl 74_37 +1 known nonsense c.1828 p.E610* 0.511 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 151 0 0 63 44 41.1215 TCFL5 0 genome.wustl.edu 37 20 61491643 61491643 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 61491643 61491643 C T SNP TCFL5 ENST00000335351 human ensembl 74_37 -1 known missense c.665 p.R222Q 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCFL5 HGNC ENSG00000101190 98 0 0 53 26 32.9114 DIDO1 0 genome.wustl.edu 37 20 61513394 61513394 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 61513394 61513394 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.3914 p.S1305L 0.173 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 243 1 0.409836 139 67 32.5243 COL20A1 0 genome.wustl.edu 37 20 61936897 61936897 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 61936897 61936897 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.322 p.R108W 0.868 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 30 0 0 7 8 53.3333 CHRNA4 0 genome.wustl.edu 37 20 61981912 61981912 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 61981912 61981912 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.851 p.S284L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 143 0 0 54 34 38.6364 UCKL1 0 genome.wustl.edu 37 20 62572374 62572374 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 62572374 62572374 C T SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1045 p.E349K 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 56 0 0 25 7 21.875 ZNF512B 0 genome.wustl.edu 37 20 62595509 62595509 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 62595509 62595509 G A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known silent c.1395 p.G465 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 252 0 0 95 44 31.6547 PRPF6 0 genome.wustl.edu 37 20 62624781 62624781 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 62624781 62624781 A C SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.381 p.E127D 0.998 pfam_PRP1_N pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 67 0 0 49 31 38.75 LINC00176 0 genome.wustl.edu 37 20 62669793 62669793 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 62669793 62669793 C T SNP LINC00176 ENST00000358393 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00176 HGNC ENSG00000196421 26 0 0 17 11 39.2857 MYT1 0 genome.wustl.edu 37 20 62831255 62831255 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 62831255 62831255 G T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.66 p.E22D 0.738 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 204 0 0 46 74 61.6667 MYT1 0 genome.wustl.edu 37 20 62837075 62837075 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 62837075 62837075 G T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known nonsense c.319 p.E107* 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 78 0 0 16 46 74.1935 PLCB1 0 genome.wustl.edu 37 20 8769159 8769159 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 8769159 8769159 G C SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.3175 p.E1059Q 1.000 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 25 0 0 35 2 5.40541 PLCB1 0 genome.wustl.edu 37 20 8862337 8862337 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 8862337 8862337 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known silent c.3492 p.F1164 0.114 pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 268 0 0 155 93 37.5 PLCB4 0 genome.wustl.edu 37 20 9370547 9370547 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 9370547 9370547 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.1180 p.E394K 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 85 0 0 59 20 25.3165 PLCB4 0 genome.wustl.edu 37 20 9402103 9402103 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 9402103 9402103 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2278 p.R760W 1.000 pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 85 0 0 64 28 30.4348 PLCB4 0 genome.wustl.edu 37 20 9424868 9424868 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 9424868 9424868 C A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2822 p.S941Y 1.000 pirsf_PLC-beta,pfam_PLC-beta_CS pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 69 0 0 38 25 39.6825 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862772 10862772 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 10862772 10862772 T G SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.68 p.L23R 1.000 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 563 0 0 429 49 10.251 TPTE 0 genome.wustl.edu 37 21 10951415 10951415 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 10951415 10951415 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.297 p.V99 0.027 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 134 0 0 121 24 16.5517 TPTE 0 genome.wustl.edu 37 21 10998235 10998235 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 10998235 10998235 T G SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors TPTE HGNC ENSG00000166157 157 0 0 133 25 15.8228 TPTE 0 genome.wustl.edu 37 21 11020823 11020823 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 11020823 11020823 A G SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TPTE HGNC ENSG00000166157 253 0 0 205 40 16.3265 BAGE2 0 genome.wustl.edu 37 21 11049620 11049620 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 11049620 11049620 C T SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors BAGE2 HGNC ENSG00000187172 399 0 0 329 18 5.18732 ANKRD20A11P 0 genome.wustl.edu 37 21 15297554 15297554 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 15297554 15297554 G A SNP ANKRD20A11P ENST00000442192 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 45 0 0 45 21 31.8182 ANKRD20A11P 0 genome.wustl.edu 37 21 15352252 15352252 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 15352252 15352252 A G SNP ANKRD20A11P ENST00000344693 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 15 0 0 6 9 60 SAMSN1 0 genome.wustl.edu 37 21 15893519 15893519 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 15893519 15893519 G A SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known silent c.81 p.F27 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 36 0 0 20 15 42.8571 NRIP1 0 genome.wustl.edu 37 21 16337265 16337265 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 16337265 16337265 T G SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.3249 p.E1083D 0.991 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 227 0 0 137 79 36.5741 TMPRSS15 0 genome.wustl.edu 37 21 19653432 19653432 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 19653432 19653432 T G SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2593 p.N865H 0.992 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 209 0 0 132 71 34.9754 TMPRSS15 0 genome.wustl.edu 37 21 19670096 19670096 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 19670096 19670096 A G SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2216 p.V739A 0.969 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 66 0 0 53 24 31.1688 NCAM2 0 genome.wustl.edu 37 21 22881337 22881337 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 22881337 22881337 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2243 p.G748D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 75 0 0 57 21 26.9231 NCAM2 0 genome.wustl.edu 37 21 22910240 22910240 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 22910240 22910240 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2476 p.D826N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 49 0 0 31 47 60.2564 ATP5J 0 genome.wustl.edu 37 21 27096989 27096989 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 27096989 27096989 C T SNP ATP5J ENST00000457143 human ensembl 74_37 -1 known splice_site c.314-1 e4-1 1.000 - - - no_errors ATP5J HGNC ENSG00000154723 60 0 0 47 22 31.8841 ADAMTS5 0 genome.wustl.edu 37 21 28296687 28296687 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 28296687 28296687 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.2478 p.T826 0.001 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 199 0 0 102 55 35.0318 ADAMTS5 0 genome.wustl.edu 37 21 28327064 28327064 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 28327064 28327064 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1231 p.E411K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 110 0 0 61 25 29.0698 USP16 0 genome.wustl.edu 37 21 30419571 30419571 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 30419571 30419571 G A SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.1940 p.R647Q 0.007 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 141 0 0 86 64 42.6667 USP16 0 genome.wustl.edu 37 21 30422460 30422460 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 30422460 30422460 A C SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.2154 p.E718D 0.975 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 56 0 0 34 26 43.3333 GRIK1 0 genome.wustl.edu 37 21 30925894 30925894 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 30925894 30925894 G T SNP GRIK1 ENST00000309434 human ensembl 74_37 -1 known silent c.2745 p.S915 0.999 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 76 0 0 60 24 28.5714 KRTAP24-1 0 genome.wustl.edu 37 21 31654595 31654595 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 31654595 31654595 C T SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.656 p.R219Q 0.000 NULL pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 160 0 0 83 42 33.6 KRTAP27-1 0 genome.wustl.edu 37 21 31709589 31709589 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 31709589 31709589 G A SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known missense c.398 p.P133L 0.611 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 314 0 0 172 64 27.1186 KRTAP13-1 0 genome.wustl.edu 37 21 31768675 31768675 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 31768675 31768675 C A SNP KRTAP13-1 ENST00000355459 human ensembl 74_37 +1 known missense c.271 p.P91T 0.768 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 109 0 0 63 30 32.2581 KRTAP19-5 0 genome.wustl.edu 37 21 31874354 31874354 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 31874354 31874354 C T SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known missense c.55 p.D19N 0.003 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 254 0 0 144 66 31.4286 TIAM1 0 genome.wustl.edu 37 21 32519234 32519234 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 32519234 32519234 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3454 p.V1152F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 61 0 0 41 11 21.1538 TIAM1 0 genome.wustl.edu 37 21 32559358 32559358 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 32559358 32559358 T C SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2621 p.Y874C 0.319 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 259 0 0 125 71 36.2245 SCAF4 0 genome.wustl.edu 37 21 33068467 33068467 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 33068467 33068467 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1027 p.P343S 0.973 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 318 0 0 173 89 33.9695 SYNJ1 0 genome.wustl.edu 37 21 34058149 34058149 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34058149 34058149 T G SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.1144 p.K382Q 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 70 0 0 56 38 40.4255 PAXBP1 0 genome.wustl.edu 37 21 34132150 34132150 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34132150 34132150 T G SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known missense c.1131 p.K377N 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 192 0 0 114 61 34.8571 IL10RB 0 genome.wustl.edu 37 21 34652088 34652088 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34652088 34652088 A C SNP IL10RB ENST00000290200 human ensembl 74_37 +1 known missense c.363 p.E121D 0.069 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL10RB HGNC ENSG00000243646 179 0 0 128 58 31.1828 IFNAR1 0 genome.wustl.edu 37 21 34725189 34725189 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34725189 34725189 C T SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known silent c.1269 p.D423 0.000 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 80 0 0 69 33 32.3529 SON 0 genome.wustl.edu 37 21 34922384 34922384 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34922384 34922384 T A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.847 p.S283T 0.046 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 161 0 0 88 39 30.7087 SON 0 genome.wustl.edu 37 21 34922611 34922611 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34922611 34922611 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.1074 p.P358 0.597 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 182 1 0.546448 88 49 35.7664 SON 0 genome.wustl.edu 37 21 34923451 34923451 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34923451 34923451 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.1914 p.A638 0.999 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 99 0 0 45 27 37.5 SON 0 genome.wustl.edu 37 21 34931566 34931566 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34931566 34931566 G T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.6352 p.D2118Y 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 96 0 0 52 51 49.5146 SON 0 genome.wustl.edu 37 21 34932295 34932295 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34932295 34932295 A C SNP SON ENST00000300278 human ensembl 74_37 +1 known missense c.6770 p.K2257T 1.000 NULL superfamily_WD40_repeat_dom - no_errors SON HGNC ENSG00000159140 106 0 0 55 16 22.5352 CRYZL1 0 genome.wustl.edu 37 21 34962116 34962116 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 34962116 34962116 G A SNP CRYZL1 ENST00000445393 human ensembl 74_37 -1 novel missense c.575 p.S192F 0.360 NULL superfamily_GroES-like - no_errors CRYZL1 HGNC ENSG00000205758 28 0 0 17 9 34.6154 ITSN1 0 genome.wustl.edu 37 21 35127704 35127704 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 35127704 35127704 T C SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known splice_site c.724+2 e7+2 1.000 - - - no_errors ITSN1 HGNC ENSG00000205726 55 0 0 34 12 26.087 ITSN1 0 genome.wustl.edu 37 21 35260458 35260458 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 35260458 35260458 T G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.5020 p.F1674V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 115 0 0 48 42 46.6667 SLC5A3 0 genome.wustl.edu 37 21 35467556 35467556 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 35467556 35467556 T C SNP SLC5A3 ENST00000381151 human ensembl 74_37 +1 known missense c.59 p.V20A 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC ENSG00000198743 174 0 0 101 49 32.6667 MIR802 0 genome.wustl.edu 37 21 37093076 37093076 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 37093076 37093076 C A SNP MIR802 ENST00000390235 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR802 HGNC ENSG00000211590 88 0 0 52 12 18.75 CBR3-AS1 0 genome.wustl.edu 37 21 37505070 37505070 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 37505070 37505070 T G SNP CBR3-AS1 ENST00000413862 human ensembl 74_37 -1 known rna NULL NULL 0.914 - - - no_errors CBR3-AS1 HGNC ENSG00000236830 14 0 0 6 5 45.4545 DOPEY2 0 genome.wustl.edu 37 21 37603319 37603319 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 37603319 37603319 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.2237 p.R746H 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 152 0 0 65 34 34.3434 DOPEY2 0 genome.wustl.edu 37 21 37664487 37664487 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 37664487 37664487 C A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.6601 p.P2201T 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 161 0 0 66 34 34 MORC3 0 genome.wustl.edu 37 21 37741635 37741635 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 37741635 37741635 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1969 p.D657N 0.976 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 119 0 0 80 31 27.9279 TTC3 0 genome.wustl.edu 37 21 38494187 38494187 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38494187 38494187 A C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.971 p.K324T 0.984 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 63 0 0 45 25 35.7143 TTC3 0 genome.wustl.edu 37 21 38501357 38501357 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38501357 38501357 A C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1352 p.K451T 0.817 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 53 0 0 45 18 28.5714 TTC3 0 genome.wustl.edu 37 21 38559387 38559387 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38559387 38559387 T C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.4864 p.Y1622H 0.001 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 38 0 0 28 15 34.8837 TTC3 0 genome.wustl.edu 37 21 38568259 38568259 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38568259 38568259 C T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.5501 p.A1834V 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 66 0 0 48 24 33.3333 DYRK1A 0 genome.wustl.edu 37 21 38853084 38853084 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38853084 38853084 C T SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.472 p.R158C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 100 0 0 71 26 26.8041 DYRK1A 0 genome.wustl.edu 37 21 38862486 38862486 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38862486 38862486 A C SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.674 p.K225T 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 DYRK1A HGNC ENSG00000157540 73 0 0 47 22 31.8841 KCNJ6 0 genome.wustl.edu 37 21 38997769 38997769 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 38997769 38997769 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known nonsense c.964 p.R322* 0.993 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 81 0 0 37 18 32.7273 KCNJ15 0 genome.wustl.edu 37 21 39671201 39671201 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 39671201 39671201 C T SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known silent c.18 p.I6 0.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 87 0 0 52 34 39.5349 ERG 0 genome.wustl.edu 37 21 39755649 39755649 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 39755649 39755649 G A SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.1137 p.Y379 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 145 0 0 83 36 30.2521 ERG 0 genome.wustl.edu 37 21 39775557 39775557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 39775557 39775557 C T SNP ERG ENST00000398919 human ensembl 74_37 -1 known missense c.484 p.V162I 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 120 0 0 67 26 27.957 ETS2 0 genome.wustl.edu 37 21 40189001 40189001 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 40189001 40189001 A G SNP ETS2 ENST00000360214 human ensembl 74_37 +1 known missense c.575 p.N192S 0.987 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS2 HGNC ENSG00000157557 134 0 0 90 45 33.3333 LCA5L 0 genome.wustl.edu 37 21 40783699 40783699 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 40783699 40783699 G A SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known silent c.1005 p.N335 1.000 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 52 0 0 41 19 31.6667 LCA5L 0 genome.wustl.edu 37 21 40800375 40800375 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 40800375 40800375 G T SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known missense c.45 p.F15L 0.033 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 111 0 0 61 28 31.4607 SH3BGR 0 genome.wustl.edu 37 21 40834341 40834341 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 40834341 40834341 C T SNP SH3BGR ENST00000333634 human ensembl 74_37 +1 known missense c.275 p.A92V 1.000 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGR HGNC ENSG00000185437 79 0 0 74 25 25.2525 DSCAM 0 genome.wustl.edu 37 21 41559880 41559880 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 41559880 41559880 A C SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2588 p.F863C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,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_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 87 0 0 40 25 38.4615 DSCAM 0 genome.wustl.edu 37 21 41684041 41684041 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 41684041 41684041 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2029 p.A677T 0.936 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 172 0 0 106 57 34.9693 DSCAM 0 genome.wustl.edu 37 21 41684283 41684283 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 41684283 41684283 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.1787 p.P596L 0.999 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 38 0 0 18 9 33.3333 BACE2 0 genome.wustl.edu 37 21 42617914 42617914 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 42617914 42617914 A G SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.908 p.D303G 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 25 0 0 17 8 32 BACE2 0 genome.wustl.edu 37 21 42647372 42647372 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 42647372 42647372 G A SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.1378 p.A460T 0.000 prints_Pept_A1_BACE2 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 104 0 0 65 29 30.8511 UMODL1 0 genome.wustl.edu 37 21 43531245 43531245 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 43531245 43531245 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.1913 p.A638V 0.127 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 17 0 0 6 4 40 UMODL1 0 genome.wustl.edu 37 21 43533907 43533907 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 43533907 43533907 G T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known nonsense c.2713 p.E905* 0.078 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 118 0 0 40 15 27.2727 ABCG1 0 genome.wustl.edu 37 21 43702514 43702514 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 43702514 43702514 T C SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1157 p.F386S 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 61 0 0 20 14 41.1765 ABCG1 0 genome.wustl.edu 37 21 43716283 43716283 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 43716283 43716283 C T SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known silent c.2256 p.F752 0.450 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 76 0 0 55 24 30.3797 UBASH3A 0 genome.wustl.edu 37 21 43862610 43862610 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 43862610 43862610 T G SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known missense c.1535 p.F512C 1.000 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 149 0 0 76 52 40.625 PKNOX1 0 genome.wustl.edu 37 21 44444988 44444988 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 44444988 44444988 A G SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known missense c.857 p.Y286C 1.000 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 107 0 0 50 27 35.0649 CBS 0 genome.wustl.edu 37 21 44488638 44488638 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 44488638 44488638 G A SNP CBS ENST00000398168 human ensembl 74_37 -1 known silent c.297 p.F99 0.047 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 109 0 0 46 25 35.2113 TRAPPC10 0 genome.wustl.edu 37 21 45504019 45504019 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 45504019 45504019 C T SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.2255 p.T752M 0.998 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 71 0 0 28 12 30 PWP2 0 genome.wustl.edu 37 21 45540313 45540313 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 45540313 45540313 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1273 p.A425T 0.019 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 240 0 0 116 59 33.7143 ENSG00000184441 0 genome.wustl.edu 37 21 45753196 45753196 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 45753196 45753196 G T SNP ENSG00000184441 ENST00000448927 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AP001062.7 Clone_based_vega_gene ENSG00000184441 11 0 0 3 4 57.1429 LRRC3 0 genome.wustl.edu 37 21 45877213 45877213 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 45877213 45877213 A G SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.686 p.N229S 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 124 0 0 85 5 5.55556 KRTAP10-4 0 genome.wustl.edu 37 21 45994370 45994370 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 45994370 45994370 G T SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.735 p.E245D 0.001 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 319 0 0 134 52 27.957 KRTAP10-9 0 genome.wustl.edu 37 21 46047149 46047149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46047149 46047149 G A SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known missense c.61 p.D21N 1.000 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 170 1 0.584795 74 32 30.1887 KRTAP10-9 0 genome.wustl.edu 37 21 46047218 46047218 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46047218 46047218 A G SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known missense c.130 p.T44A 0.403 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 196 0 0 80 56 41.1765 KRTAP12-4 0 genome.wustl.edu 37 21 46074227 46074227 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46074227 46074227 C A SNP KRTAP12-4 ENST00000391618 human ensembl 74_37 -1 known missense c.305 p.R102I 0.002 NULL NULL - no_errors KRTAP12-4 HGNC ENSG00000212933 88 0 0 45 22 32.8358 KRTAP12-3 0 genome.wustl.edu 37 21 46078099 46078099 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46078099 46078099 C A SNP KRTAP12-3 ENST00000397907 human ensembl 74_37 +1 known missense c.203 p.P68H 0.883 NULL NULL - no_errors KRTAP12-3 HGNC ENSG00000205439 154 0 0 106 36 25.3521 ITGB2 0 genome.wustl.edu 37 21 46309280 46309280 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46309280 46309280 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.1788 p.C596 0.784 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 74 0 0 20 18 47.3684 ITGB2 0 genome.wustl.edu 37 21 46321485 46321485 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46321485 46321485 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.663 p.V221 0.833 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 117 0 0 54 36 40 ITGB2 0 genome.wustl.edu 37 21 46330639 46330639 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46330639 46330639 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known splice_site c.58+1 e1+1 0.995 - - - no_errors ITGB2 HGNC ENSG00000160255 32 0 0 13 8 38.0952 ADARB1 0 genome.wustl.edu 37 21 46624478 46624478 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46624478 46624478 T C SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.1694 p.V565A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 124 0 0 89 28 23.9316 POFUT2 0 genome.wustl.edu 37 21 46705505 46705505 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46705505 46705505 C T SNP POFUT2 ENST00000476653 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors POFUT2 HGNC ENSG00000186866 40 0 0 16 7 30.4348 COL18A1 0 genome.wustl.edu 37 21 46896386 46896386 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 46896386 46896386 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.2165 p.S722L 0.002 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 29 0 0 11 3 21.4286 PCBP3 0 genome.wustl.edu 37 21 47359992 47359992 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 47359992 47359992 C T SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known nonsense c.958 p.R320* 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 163 0 0 56 32 36.3636 COL6A1 0 genome.wustl.edu 37 21 47424005 47424005 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 47424005 47424005 G A SNP COL6A1 ENST00000486023 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COL6A1 HGNC ENSG00000142156 73 0 0 31 16 34.0426 MCM3AP 0 genome.wustl.edu 37 21 47704119 47704119 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 47704119 47704119 T G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1082 p.K361T 0.992 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 305 0 0 137 55 28.6458 YBEY 0 genome.wustl.edu 37 21 47706911 47706911 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 47706911 47706911 G A SNP YBEY ENST00000329319 human ensembl 74_37 +1 known silent c.84 p.R28 0.000 pfam_YbeY pfam_YbeY,tigrfam_YbeY - no_errors YBEY HGNC ENSG00000182362 106 0 0 40 28 41.1765 PCNT 0 genome.wustl.edu 37 21 47848442 47848442 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 21 47848442 47848442 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.7628 p.R2543H 0.957 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 34 0 0 16 9 36 CCT8L2 0 genome.wustl.edu 37 22 17071789 17071789 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17071789 17071789 T G SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.1652 p.K551T 0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 158 0 0 99 36 26.6667 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140517 17140517 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17140517 17140517 A G SNP ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 51 0 0 29 21 42 GAB4 0 genome.wustl.edu 37 22 17447013 17447013 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17447013 17447013 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.1265 p.R422H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 148 0 0 72 34 32.0755 GAB4 0 genome.wustl.edu 37 22 17447056 17447056 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17447056 17447056 C A SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.1222 p.D408Y 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 118 0 0 65 30 31.5789 CECR1 0 genome.wustl.edu 37 22 17662438 17662438 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17662438 17662438 T G SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.1471 p.N491H 0.001 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 318 0 0 157 76 32.618 CECR1 0 genome.wustl.edu 37 22 17662442 17662442 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17662442 17662442 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.1467 p.E489 0.046 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 304 0 0 147 74 33.4842 CECR2 0 genome.wustl.edu 37 22 17976436 17976436 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 17976436 17976436 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.157 p.P53S 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 43 0 0 28 14 33.3333 CECR2 0 genome.wustl.edu 37 22 18028975 18028975 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 18028975 18028975 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.3932 p.S1311L 0.927 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 210 0 0 110 41 27.1523 ATP6V1E1 0 genome.wustl.edu 37 22 18095536 18095536 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 18095536 18095536 A C SNP ATP6V1E1 ENST00000478963 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ATP6V1E1 HGNC ENSG00000131100 41 0 0 29 16 35.5556 MICAL3 0 genome.wustl.edu 37 22 18348745 18348745 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 18348745 18348745 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.2462 p.R821Q 1.000 pfscan_Znf_LIM pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 80 0 0 31 10 24.3902 CLTCL1 0 genome.wustl.edu 37 22 19170998 19170998 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 19170998 19170998 G A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.4732 p.R1578C 1.000 smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 100 0 0 39 21 35 CLTCL1 0 genome.wustl.edu 37 22 19203720 19203720 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 19203720 19203720 G A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.2966 p.S989L 0.996 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 68 0 0 42 15 26.3158 CLTCL1 0 genome.wustl.edu 37 22 19221116 19221116 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 19221116 19221116 C T SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known silent c.1197 p.Q399 0.016 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 63 0 0 59 9 13.2353 CLDN5 0 genome.wustl.edu 37 22 19511134 19511134 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 19511134 19511134 C A SNP CLDN5 ENST00000403084 human ensembl 74_37 -1 known missense c.900 p.K300N 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 58 0 0 38 5 11.6279 TANGO2 0 genome.wustl.edu 37 22 20024483 20024483 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 20024483 20024483 C T SNP TANGO2 ENST00000434570 human ensembl 74_37 +1 known silent c.45 p.D15 0.000 NULL pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 106 0 0 46 23 33.3333 RIMBP3 0 genome.wustl.edu 37 22 20458539 20458539 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 20458539 20458539 C T SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known silent c.2763 p.G921 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 62 0 0 32 14 30.4348 ZNF74 0 genome.wustl.edu 37 22 20761251 20761251 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 20761251 20761251 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.1928 p.R643Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 55 0 0 20 14 41.1765 KLHL22 0 genome.wustl.edu 37 22 20838275 20838275 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 20838275 20838275 C T SNP KLHL22 ENST00000470335 human ensembl 74_37 -1 putative rna NULL NULL 0.985 - - - no_errors KLHL22 HGNC ENSG00000099910 57 0 0 27 15 35.7143 PI4KA 0 genome.wustl.edu 37 22 21075682 21075682 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 21075682 21075682 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.5020 p.L1674 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 199 0 0 85 45 34.6154 CRKL 0 genome.wustl.edu 37 22 21288167 21288167 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 21288167 21288167 G T SNP CRKL ENST00000354336 human ensembl 74_37 +1 known missense c.412 p.D138Y 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRKL HGNC ENSG00000099942 160 0 0 89 60 40.2685 AIFM3 0 genome.wustl.edu 37 22 21327599 21327599 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 21327599 21327599 A C SNP AIFM3 ENST00000399167 human ensembl 74_37 +1 known missense c.35 p.E12A 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 16 0 0 12 6 33.3333 TUBA3FP 0 genome.wustl.edu 37 22 21363561 21363561 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 21363561 21363561 T C SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 120 0 0 85 6 6.59341 CCDC116 0 genome.wustl.edu 37 22 21989197 21989197 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 21989197 21989197 A C SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.845 p.Q282P 0.995 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 209 0 0 85 52 37.9562 ZNF280B 0 genome.wustl.edu 37 22 22842885 22842885 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 22842885 22842885 T C SNP ZNF280B ENST00000360412 human ensembl 74_37 -1 known missense c.839 p.N280S 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 139 0 0 65 36 35.6436 PRAME 0 genome.wustl.edu 37 22 22892500 22892500 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 22892500 22892500 G A SNP PRAME ENST00000398741 human ensembl 74_37 -1 known nonsense c.601 p.R201* 0.000 NULL NULL - no_errors PRAME HGNC ENSG00000185686 211 0 0 110 48 30.3797 BCR 0 genome.wustl.edu 37 22 23613760 23613760 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 23613760 23613760 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known silent c.1902 p.T634 0.701 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 83 0 0 36 20 35.7143 CES5AP1 0 genome.wustl.edu 37 22 23712541 23712541 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 23712541 23712541 G A SNP CES5AP1 ENST00000415114 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors CES5AP1 HGNC ENSG00000215478 90 0 0 39 25 39.0625 CABIN1 0 genome.wustl.edu 37 22 24456571 24456571 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 24456571 24456571 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.1584 p.P528 0.299 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 70 0 0 47 26 35.6164 CABIN1 0 genome.wustl.edu 37 22 24468452 24468452 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 24468452 24468452 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.2624 p.A875V 0.001 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 101 1 0.980392 53 15 22.0588 CABIN1 0 genome.wustl.edu 37 22 24472128 24472128 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 24472128 24472128 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.2643 p.E881 0.215 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 69 0 0 30 16 34.7826 GGT5 0 genome.wustl.edu 37 22 24616052 24616052 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 24616052 24616052 C A SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known missense c.1650 p.Q550H 0.692 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 71 0 0 30 18 37.5 ADORA2A 0 genome.wustl.edu 37 22 24837105 24837105 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 24837105 24837105 G A SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.887 p.R296H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 125 0 0 45 28 38.3562 SGSM1 0 genome.wustl.edu 37 22 25240909 25240909 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 25240909 25240909 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.109 p.E37K 0.998 pfscan_Run pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 72 0 0 39 23 37.0968 SGSM1 0 genome.wustl.edu 37 22 25282634 25282634 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 25282634 25282634 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.1874 p.A625V 0.980 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 8 0 0 4 4 50 MYO18B 0 genome.wustl.edu 37 22 26159197 26159197 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 26159197 26159197 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known splice_site c.40-1 e2-1 1.000 - - - no_errors MYO18B HGNC ENSG00000133454 58 0 0 22 9 29.0323 SEZ6L 0 genome.wustl.edu 37 22 26747069 26747069 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 26747069 26747069 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.2459 p.S820L 0.999 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 SEZ6L HGNC ENSG00000100095 146 0 0 69 39 36.1111 SEZ6L 0 genome.wustl.edu 37 22 26747191 26747191 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 26747191 26747191 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.2581 p.R861C 0.956 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 SEZ6L HGNC ENSG00000100095 119 0 0 61 31 33.6957 CCDC117 0 genome.wustl.edu 37 22 29177000 29177000 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 29177000 29177000 C A SNP CCDC117 ENST00000249064 human ensembl 74_37 +1 known missense c.304 p.L102I 1.000 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 79 0 0 37 16 30.1887 AP1B1 0 genome.wustl.edu 37 22 29754901 29754901 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 29754901 29754901 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.339 p.I113 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 32 0 0 14 7 33.3333 THOC5 0 genome.wustl.edu 37 22 29908111 29908111 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 29908111 29908111 C T SNP THOC5 ENST00000397871 human ensembl 74_37 -1 known missense c.1696 p.A566T 0.995 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 58 0 0 36 16 30.7692 MTMR3 0 genome.wustl.edu 37 22 30374969 30374969 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 30374969 30374969 C T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known silent c.138 p.G46 0.997 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 115 0 0 58 30 34.0909 SEC14L4 0 genome.wustl.edu 37 22 30891949 30891949 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 30891949 30891949 A C SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known missense c.140 p.F47C 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 66 0 0 28 14 33.3333 SMTN 0 genome.wustl.edu 37 22 31484584 31484584 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 31484584 31484584 A G SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.286 p.T96A 1.000 pfam_Smoothelin pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 113 0 0 49 24 32.8767 SMTN 0 genome.wustl.edu 37 22 31489749 31489749 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 31489749 31489749 G A SNP SMTN ENST00000404574 human ensembl 74_37 +1 putative missense c.316 p.D106N 0.948 NULL pfam_CH-domain,pfam_Smoothelin,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 16 0 0 10 7 41.1765 INPP5J 0 genome.wustl.edu 37 22 31521798 31521798 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 31521798 31521798 G A SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known missense c.1073 p.R358H 0.051 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 30 0 0 11 4 26.6667 PIK3IP1 0 genome.wustl.edu 37 22 31685536 31685536 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 31685536 31685536 T G SNP PIK3IP1 ENST00000215912 human ensembl 74_37 -1 known missense c.457 p.S153R 1.000 NULL pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle - no_errors PIK3IP1 HGNC ENSG00000100100 13 0 0 2 3 60 EIF4ENIF1 0 genome.wustl.edu 37 22 31884627 31884627 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 31884627 31884627 G A SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known silent c.78 p.C26 1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 95 0 0 48 29 37.6623 SFI1 0 genome.wustl.edu 37 22 31998258 31998258 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 31998258 31998258 A C SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.1605 p.E535D 0.804 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 139 0 0 70 22 23.913 YWHAH 0 genome.wustl.edu 37 22 32352264 32352264 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 32352264 32352264 G A SNP YWHAH ENST00000248975 human ensembl 74_37 +1 known missense c.226 p.E76K 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAH HGNC ENSG00000128245 89 0 0 39 21 35 RFPL3 0 genome.wustl.edu 37 22 32754255 32754255 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 32754255 32754255 C T SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.197 p.S66L 0.004 pfam_RDM_domain_RFPL,pfscan_Znf_RING pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 154 0 0 74 36 32.7273 SYN3 0 genome.wustl.edu 37 22 32937665 32937665 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 32937665 32937665 A G SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.809 p.I270T 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 53 0 0 30 14 31.8182 SYN3 0 genome.wustl.edu 37 22 33376685 33376685 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 33376685 33376685 G A SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.314 p.S105L 0.969 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_dom,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 262 0 0 144 75 34.2466 TOM1 0 genome.wustl.edu 37 22 35719555 35719555 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 35719555 35719555 C T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.433 p.R145W 0.989 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 160 0 0 73 36 33.0275 MCM5 0 genome.wustl.edu 37 22 35808654 35808654 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 35808654 35808654 C A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known silent c.1071 p.L357 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 108 0 0 40 27 40.2985 MYH9 0 genome.wustl.edu 37 22 36745002 36745002 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 36745002 36745002 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.280 p.E94K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_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 82 0 0 38 21 35.5932 EIF3D 0 genome.wustl.edu 37 22 36907072 36907072 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 36907072 36907072 G T SNP EIF3D ENST00000478547 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors EIF3D HGNC ENSG00000100353 39 0 0 36 18 33.3333 CACNG2 0 genome.wustl.edu 37 22 36983540 36983540 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 36983540 36983540 G A SNP CACNG2 ENST00000300105 human ensembl 74_37 -1 known silent c.267 p.Y89 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin - no_errors CACNG2 HGNC ENSG00000166862 186 0 0 67 52 43.6975 IFT27 0 genome.wustl.edu 37 22 37154255 37154255 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 37154255 37154255 G A SNP IFT27 ENST00000474616 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IFT27 HGNC ENSG00000100360 32 0 0 19 12 38.7097 CSF2RB 0 genome.wustl.edu 37 22 37318260 37318260 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 37318260 37318260 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.11 p.A4V 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 13 0 0 8 5 38.4615 TMPRSS6 0 genome.wustl.edu 37 22 37499365 37499365 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 37499365 37499365 A G SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.93 p.C31 0.000 pirsf_Pept_S1A_matriptase-2 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 197 0 0 92 38 29.2308 IL2RB 0 genome.wustl.edu 37 22 37533707 37533707 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 37533707 37533707 C T SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.457 p.E153K 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 117 0 0 48 31 39.2405 ELFN2 0 genome.wustl.edu 37 22 37769204 37769204 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 37769204 37769204 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.2371 p.A791T 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 160 0 0 60 18 23.0769 ELFN2 0 genome.wustl.edu 37 22 37769767 37769767 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 37769767 37769767 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1808 p.S603L 0.983 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 26 0 0 6 7 53.8462 TRIOBP 0 genome.wustl.edu 37 22 38097437 38097437 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 38097437 38097437 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.65 p.R22H 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 38 0 0 22 5 18.5185 POLR2F 0 genome.wustl.edu 37 22 38437203 38437203 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 38437203 38437203 G A SNP POLR2F ENST00000608713 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2F HGNC ENSG00000100142 106 0 0 46 22 32.3529 CSNK1E 0 genome.wustl.edu 37 22 38696819 38696819 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 38696819 38696819 C T SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.475 p.A159T 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 CSNK1E HGNC ENSG00000213923 148 0 0 65 54 45.3782 DDX17 0 genome.wustl.edu 37 22 38882012 38882012 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 38882012 38882012 C A SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known missense c.2124 p.M708I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 207 1 0.480769 109 51 31.875 ENSG00000228274 0 genome.wustl.edu 37 22 39064260 39064260 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 39064260 39064260 C A SNP ENSG00000228274 ENST00000422408 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-508I15.9 Clone_based_vega_gene ENSG00000228274 24 0 0 11 5 31.25 MIEF1 0 genome.wustl.edu 37 22 39908025 39908025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 39908025 39908025 G A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.316 p.D106N 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 181 0 0 76 30 28.3019 CACNA1I 0 genome.wustl.edu 37 22 40055521 40055521 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40055521 40055521 A G SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2432 p.D811G 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 31 0 0 19 5 20.8333 GRAP2 0 genome.wustl.edu 37 22 40365499 40365499 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40365499 40365499 C T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.775 p.R259W 0.801 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 92 0 0 48 29 37.6623 TNRC6B 0 genome.wustl.edu 37 22 40661898 40661898 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40661898 40661898 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.1664 p.A555V 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 115 0 0 87 9 9.375 TNRC6B 0 genome.wustl.edu 37 22 40662421 40662421 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40662421 40662421 T G SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.2187 p.D729E 0.998 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 51 0 0 30 9 23.0769 SGSM3 0 genome.wustl.edu 37 22 40802123 40802123 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40802123 40802123 G A SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known missense c.856 p.A286T 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 186 0 0 62 45 42.0561 SGSM3 0 genome.wustl.edu 37 22 40805350 40805350 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40805350 40805350 C T SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known silent c.2085 p.G695 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 171 0 0 75 43 36.4407 MKL1 0 genome.wustl.edu 37 22 40814412 40814412 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40814412 40814412 T C SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.2030 p.D677G 0.973 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 167 0 0 69 27 28.125 MKL1 0 genome.wustl.edu 37 22 40819672 40819672 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 40819672 40819672 C T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.495 p.P165 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 73 0 0 37 12 24.4898 EP300 0 genome.wustl.edu 37 22 41574128 41574128 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 41574128 41574128 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.6413 p.A2138V 0.998 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 142 0 0 57 43 43 MEI1 0 genome.wustl.edu 37 22 42095614 42095614 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 42095614 42095614 C T SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known silent c.72 p.F24 0.009 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 32 0 0 21 11 34.375 SEPT3 0 genome.wustl.edu 37 22 42377818 42377818 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 42377818 42377818 C T SNP SEPT3 ENST00000396426 human ensembl 74_37 +1 known silent c.180 p.F60 0.774 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 59 0 0 22 19 46.3415 WBP2NL 0 genome.wustl.edu 37 22 42397265 42397265 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 42397265 42397265 G A SNP WBP2NL ENST00000461730 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors WBP2NL HGNC ENSG00000183066 92 0 0 32 20 38.4615 WBP2NL 0 genome.wustl.edu 37 22 42397613 42397613 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 42397613 42397613 G A SNP WBP2NL ENST00000461730 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors WBP2NL HGNC ENSG00000183066 139 0 0 74 48 39.3443 TCF20 0 genome.wustl.edu 37 22 42609814 42609814 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 42609814 42609814 T G SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.1498 p.N500H 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 384 0 0 208 91 30.4348 PACSIN2 0 genome.wustl.edu 37 22 43289591 43289591 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 43289591 43289591 C T SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.89 p.R30Q 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 108 0 0 41 27 39.7059 SCUBE1 0 genome.wustl.edu 37 22 43616481 43616481 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 43616481 43616481 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.1662 p.I554 0.993 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_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 SCUBE1 HGNC ENSG00000159307 138 0 0 75 31 29.2453 SCUBE1 0 genome.wustl.edu 37 22 43619155 43619155 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 43619155 43619155 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.1275 p.G425 0.055 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_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 SCUBE1 HGNC ENSG00000159307 207 1 0.480769 70 51 42.1488 EFCAB6 0 genome.wustl.edu 37 22 44067870 44067870 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 44067870 44067870 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.1623 p.T541 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 76 0 0 35 20 36.3636 SAMM50 0 genome.wustl.edu 37 22 44364687 44364687 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 44364687 44364687 A G SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.311 p.D104G 0.996 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 131 0 0 53 28 34.5679 WNT7B 0 genome.wustl.edu 37 22 46327148 46327148 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 46327148 46327148 C T SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.400 p.D134N 1.000 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 125 0 0 43 15 25.8621 PPARA 0 genome.wustl.edu 37 22 46614182 46614182 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 46614182 46614182 G A SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.392 p.R131Q 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_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_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 119 0 0 38 38 50 PKDREJ 0 genome.wustl.edu 37 22 46653760 46653760 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 46653760 46653760 T G SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.5460 p.E1820D 0.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 358 1 0.278552 209 104 33.2268 PKDREJ 0 genome.wustl.edu 37 22 46653808 46653808 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 46653808 46653808 T G SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.5412 p.K1804N 0.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 378 0 0 200 108 35.0649 PKDREJ 0 genome.wustl.edu 37 22 46656446 46656446 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 46656446 46656446 G A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.2774 p.S925L 0.000 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 329 0 0 154 84 35.2941 CELSR1 0 genome.wustl.edu 37 22 46794454 46794454 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 46794454 46794454 G T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.5493 p.V1831 0.024 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 94 0 0 44 28 38.8889 GRAMD4 0 genome.wustl.edu 37 22 47022799 47022799 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 47022799 47022799 G A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.103 p.E35K 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 140 0 0 68 42 38.1818 TUBGCP6 0 genome.wustl.edu 37 22 50659884 50659884 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 50659884 50659884 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.2904 p.G968 0.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 27 0 0 7 3 30 PLXNB2 0 genome.wustl.edu 37 22 50718432 50718432 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 50718432 50718432 A G SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known splice_site c.4242+2 e24+2 1.000 - - - no_errors PLXNB2 HGNC ENSG00000196576 100 0 0 44 19 30.1587 SBF1 0 genome.wustl.edu 37 22 50900836 50900836 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 50900836 50900836 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.2194 p.R732C 1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 203 0 0 73 52 41.6 MIOX 0 genome.wustl.edu 37 22 50927709 50927709 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 22 50927709 50927709 T C SNP MIOX ENST00000216075 human ensembl 74_37 +1 known missense c.571 p.S191P 1.000 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 29 0 0 10 3 23.0769 LNP1 0 genome.wustl.edu 37 3 100170651 100170651 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 100170651 100170651 T C SNP LNP1 ENST00000383693 human ensembl 74_37 +1 known missense c.245 p.V82A 0.001 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 92 0 0 66 33 33.3333 LNP1 0 genome.wustl.edu 37 3 100174638 100174638 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 100174638 100174638 G T SNP LNP1 ENST00000383693 human ensembl 74_37 +1 known missense c.405 p.K135N 0.860 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 83 0 0 62 26 29.5455 ENSG00000206567 0 genome.wustl.edu 37 3 10050312 10050312 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 10050312 10050312 G A SNP ENSG00000206567 ENST00000383808 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 18 0 0 8 9 52.9412 ABI3BP 0 genome.wustl.edu 37 3 100511604 100511604 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 100511604 100511604 C A SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.1897 p.D633Y 0.996 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 53 0 0 34 22 39.2857 ABI3BP 0 genome.wustl.edu 37 3 100605153 100605153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 100605153 100605153 C T SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.497 p.R166H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 24 0 0 21 9 30 ZBTB11 0 genome.wustl.edu 37 3 101395663 101395663 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 101395663 101395663 T G SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.96 p.K32N 0.995 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 65 0 0 34 15 30.6122 FANCD2OS 0 genome.wustl.edu 37 3 10146117 10146117 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 10146117 10146117 C T SNP FANCD2OS ENST00000450660 human ensembl 74_37 -1 known nonsense c.342 p.W114* 1.000 NULL NULL - no_errors FANCD2OS HGNC ENSG00000163705 168 0 0 92 37 28.6822 NXPE3 0 genome.wustl.edu 37 3 101520806 101520806 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 101520806 101520806 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.821 p.T274I 0.961 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 208 0 0 167 25 13.0208 SEC13 0 genome.wustl.edu 37 3 10354352 10354352 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 10354352 10354352 G A SNP SEC13 ENST00000350697 human ensembl 74_37 -1 known missense c.227 p.S76L 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,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 163 0 0 78 44 36.0656 HHLA2 0 genome.wustl.edu 37 3 108072323 108072323 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 108072323 108072323 C T SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known silent c.114 p.I38 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 18 0 0 15 4 21.0526 HHLA2 0 genome.wustl.edu 37 3 108072555 108072555 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 108072555 108072555 G A SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known missense c.346 p.E116K 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 62 0 0 37 15 28.8462 GUCA1C 0 genome.wustl.edu 37 3 108627035 108627035 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 108627035 108627035 A C SNP GUCA1C ENST00000261047 human ensembl 74_37 -1 known missense c.464 p.F155C 0.984 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 57 0 0 37 19 33.9286 MORC1 0 genome.wustl.edu 37 3 108751664 108751664 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 108751664 108751664 G T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1468 p.L490I 1.000 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 63 0 0 42 24 36.3636 ZBED2 0 genome.wustl.edu 37 3 111312952 111312952 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 111312952 111312952 C A SNP ZBED2 ENST00000317012 human ensembl 74_37 -1 known nonsense c.97 p.E33* 0.079 NULL pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED2 HGNC ENSG00000177494 113 1 0.877193 69 47 40.5172 CD96 0 genome.wustl.edu 37 3 111325554 111325554 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 111325554 111325554 A C SNP CD96 ENST00000283285 human ensembl 74_37 +1 known missense c.1143 p.E381D 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 79 0 0 55 21 27.6316 PHLDB2 0 genome.wustl.edu 37 3 111671489 111671489 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 111671489 111671489 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.2702 p.R901Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 100 0 0 51 40 43.956 ABHD10 0 genome.wustl.edu 37 3 111700772 111700772 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 111700772 111700772 C T SNP ABHD10 ENST00000273359 human ensembl 74_37 +1 known missense c.284 p.A95V 1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 84 0 0 44 23 34.3284 SLC9C1 0 genome.wustl.edu 37 3 111921223 111921223 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 111921223 111921223 T G SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.2196 p.Q732H 0.018 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 93 0 0 74 44 37.2881 BTLA 0 genome.wustl.edu 37 3 112184788 112184788 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 112184788 112184788 A C SNP BTLA ENST00000474965 human ensembl 74_37 -1 putative rna NULL NULL 0.466 - - - no_errors BTLA HGNC ENSG00000186265 15 0 0 13 8 38.0952 CCDC80 0 genome.wustl.edu 37 3 112358445 112358445 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 112358445 112358445 C A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.308 p.R103I 0.294 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 165 0 0 87 37 29.8387 CD200R1L 0 genome.wustl.edu 37 3 112546460 112546460 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 112546460 112546460 A C SNP CD200R1L ENST00000398214 human ensembl 74_37 -1 known missense c.184 p.L62V 0.000 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1L HGNC ENSG00000206531 137 0 0 100 41 29.078 C3orf17 0 genome.wustl.edu 37 3 112730203 112730203 + Nonsense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 112730203 112730203 A T SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known nonsense c.602 p.L201* 0.982 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 158 0 0 100 47 31.9728 BOC 0 genome.wustl.edu 37 3 112999414 112999414 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 112999414 112999414 G A SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2215 p.A739T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 135 0 0 71 34 32.381 BOC 0 genome.wustl.edu 37 3 113005647 113005647 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113005647 113005647 A G SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.3286 p.M1096V 0.002 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 248 0 0 138 54 28.125 HRH1 0 genome.wustl.edu 37 3 11301359 11301359 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 11301359 11301359 G T SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known missense c.636 p.K212N 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 204 0 0 104 43 29.2517 SIDT1 0 genome.wustl.edu 37 3 113321949 113321949 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113321949 113321949 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.1215 p.F405 0.106 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 88 0 0 61 22 26.506 SIDT1 0 genome.wustl.edu 37 3 113322822 113322822 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113322822 113322822 T C SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.1279 p.S427P 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 21 0 0 19 12 38.7097 KIAA2018 0 genome.wustl.edu 37 3 113377699 113377699 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113377699 113377699 A C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.2830 p.L944V 0.006 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 238 0 0 136 68 33.3333 KIAA2018 0 genome.wustl.edu 37 3 113378349 113378349 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113378349 113378349 A G SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.2180 p.V727A 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 116 0 0 44 18 29.0323 ATP6V1A 0 genome.wustl.edu 37 3 113497631 113497631 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113497631 113497631 G A SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known missense c.31 p.D11N 1.000 superfamily_ATPase_F1_a/bsu_N pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 38 0 0 26 15 36.5854 ATP6V1A 0 genome.wustl.edu 37 3 113503563 113503563 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 113503563 113503563 C T SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known silent c.447 p.G149 0.862 tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 113 0 0 61 33 35.1064 IGSF11 0 genome.wustl.edu 37 3 118621425 118621425 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 118621425 118621425 C T SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.1238 p.R413Q 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 161 1 0.617284 149 21 12.3529 IGSF11 0 genome.wustl.edu 37 3 118624560 118624560 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 118624560 118624560 C T SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.586 p.V196I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 85 0 0 41 25 37.8788 ARHGAP31 0 genome.wustl.edu 37 3 119087355 119087355 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119087355 119087355 A G SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.340 p.K114E 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 73 0 0 38 22 36.6667 POGLUT1 0 genome.wustl.edu 37 3 119211258 119211258 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119211258 119211258 T C SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known silent c.1152 p.I384 0.862 pfam_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 88 0 0 47 26 35.6164 TIMMDC1 0 genome.wustl.edu 37 3 119219697 119219697 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119219697 119219697 T G SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.350 p.F117C 0.966 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 117 0 0 94 45 32.3741 POPDC2 0 genome.wustl.edu 37 3 119361312 119361312 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119361312 119361312 T C SNP POPDC2 ENST00000474523 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POPDC2 HGNC ENSG00000121577 92 0 0 61 25 29.0698 GSK3B 0 genome.wustl.edu 37 3 119631622 119631622 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119631622 119631622 G A SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.644 p.S215L 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 GSK3B HGNC ENSG00000082701 73 0 0 43 20 31.746 GSK3B 0 genome.wustl.edu 37 3 119720900 119720900 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119720900 119720900 C A SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.275 p.R92I 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 GSK3B HGNC ENSG00000082701 164 0 0 100 52 34.2105 GPR156 0 genome.wustl.edu 37 3 119962867 119962867 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 119962867 119962867 G T SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.79 p.L27I 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 98 0 0 22 40 64.5161 LRRC58 0 genome.wustl.edu 37 3 120067729 120067729 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 120067729 120067729 C T SNP LRRC58 ENST00000295628 human ensembl 74_37 -1 known missense c.362 p.S121N 0.999 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC58 HGNC ENSG00000163428 10 0 0 11 4 26.6667 HGD 0 genome.wustl.edu 37 3 120389326 120389326 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 120389326 120389326 T C SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.230 p.D77G 0.997 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 158 0 0 63 27 30 GTF2E1 0 genome.wustl.edu 37 3 120469443 120469443 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 120469443 120469443 A C SNP GTF2E1 ENST00000283875 human ensembl 74_37 +1 known missense c.44 p.K15T 1.000 NULL pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 161 0 0 95 45 32.1429 STXBP5L 0 genome.wustl.edu 37 3 120760555 120760555 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 120760555 120760555 G T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.296 p.R99I 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 62 0 0 35 12 25.5319 POLQ 0 genome.wustl.edu 37 3 121215700 121215700 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121215700 121215700 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.2233 p.R745C 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 118 0 0 68 49 41.8803 POLQ 0 genome.wustl.edu 37 3 121238807 121238807 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121238807 121238807 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1379 p.R460Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 214 0 0 156 81 34.1772 POLQ 0 genome.wustl.edu 37 3 121258410 121258410 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121258410 121258410 T C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.501 p.K167 0.967 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 72 0 0 47 30 38.961 FBXO40 0 genome.wustl.edu 37 3 121340587 121340587 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121340587 121340587 A G SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.311 p.N104S 0.829 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 122 0 0 46 29 38.6667 FBXO40 0 genome.wustl.edu 37 3 121341621 121341621 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121341621 121341621 G A SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.1345 p.A449T 0.000 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 122 0 0 52 29 35.8025 HCLS1 0 genome.wustl.edu 37 3 121351279 121351279 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121351279 121351279 G A SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known silent c.1140 p.D380 0.993 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 366 0 0 173 78 31.0757 HCLS1 0 genome.wustl.edu 37 3 121354598 121354598 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121354598 121354598 C T SNP HCLS1 ENST00000495491 human ensembl 74_37 -1 known missense c.620 p.R207Q 0.766 NULL pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin - no_errors HCLS1 HGNC ENSG00000180353 154 0 0 87 43 33.0769 HCLS1 0 genome.wustl.edu 37 3 121361945 121361945 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121361945 121361945 T C SNP HCLS1 ENST00000473883 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HCLS1 HGNC ENSG00000180353 38 0 0 10 5 33.3333 HCLS1 0 genome.wustl.edu 37 3 121376072 121376072 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121376072 121376072 C A SNP HCLS1 ENST00000468693 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HCLS1 HGNC ENSG00000180353 254 0 0 137 55 28.6458 GOLGB1 0 genome.wustl.edu 37 3 121416180 121416180 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121416180 121416180 C A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known nonsense c.3175 p.E1059* 0.917 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 111 0 0 82 34 29.3103 GOLGB1 0 genome.wustl.edu 37 3 121417443 121417443 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121417443 121417443 C A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known nonsense c.1912 p.E638* 0.002 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 119 0 0 88 47 34.8148 GOLGB1 0 genome.wustl.edu 37 3 121417683 121417683 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121417683 121417683 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.1672 p.E558K 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 101 0 0 87 41 32.0312 CASR 0 genome.wustl.edu 37 3 121980561 121980561 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 121980561 121980561 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known nonsense c.679 p.R227* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 245 0 0 145 68 31.9249 PARP15 0 genome.wustl.edu 37 3 122335919 122335919 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122335919 122335919 C T SNP PARP15 ENST00000464300 human ensembl 74_37 +1 known missense c.908 p.A303V 0.016 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 156 0 0 80 43 34.9593 PARP15 0 genome.wustl.edu 37 3 122340311 122340311 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122340311 122340311 T G SNP PARP15 ENST00000464300 human ensembl 74_37 +1 known missense c.1084 p.F362V 0.032 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 99 0 0 57 33 36.6667 PARP15 0 genome.wustl.edu 37 3 122345735 122345735 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122345735 122345735 C A SNP PARP15 ENST00000464300 human ensembl 74_37 +1 known missense c.1293 p.F431L 0.000 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 86 0 0 45 25 35.7143 PARP14 0 genome.wustl.edu 37 3 122418266 122418266 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122418266 122418266 G A SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.865 p.D289N 0.000 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 53 0 0 39 21 35 HSPBAP1 0 genome.wustl.edu 37 3 122459983 122459983 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122459983 122459983 T C SNP HSPBAP1 ENST00000471534 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSPBAP1 HGNC ENSG00000169087 54 0 0 33 6 15.3846 DIRC2 0 genome.wustl.edu 37 3 122564623 122564623 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122564623 122564623 T G SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known missense c.847 p.L283V 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 39 0 0 25 10 28.5714 SEMA5B 0 genome.wustl.edu 37 3 122630371 122630371 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122630371 122630371 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.3220 p.A1074T 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 29 0 0 12 5 29.4118 SEMA5B 0 genome.wustl.edu 37 3 122632771 122632771 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 122632771 122632771 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2228 p.R743Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 119 0 0 53 33 38.3721 PTPLB 0 genome.wustl.edu 37 3 123219414 123219414 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 123219414 123219414 G T SNP PTPLB ENST00000383657 human ensembl 74_37 -1 known missense c.630 p.F210L 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLB HGNC ENSG00000206527 62 0 0 33 16 32.6531 MYLK 0 genome.wustl.edu 37 3 123385191 123385191 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 123385191 123385191 T G SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3706 p.M1236L 0.871 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 72 0 0 32 18 36 MYLK 0 genome.wustl.edu 37 3 123419348 123419348 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 123419348 123419348 C A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2967 p.K989N 0.988 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 145 0 0 60 30 33.3333 MYLK 0 genome.wustl.edu 37 3 123427629 123427629 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 123427629 123427629 A G SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2056 p.F686L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 179 0 0 89 44 33.0827 KALRN 0 genome.wustl.edu 37 3 124420922 124420922 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 124420922 124420922 A C SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8034 p.E2678D 0.994 superfamily_Kinase-like_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 124 0 0 79 41 34.1667 UMPS 0 genome.wustl.edu 37 3 124462839 124462839 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 124462839 124462839 C T SNP UMPS ENST00000232607 human ensembl 74_37 +1 known missense c.1351 p.R451C 1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 134 0 0 59 23 28.0488 HEG1 0 genome.wustl.edu 37 3 124739858 124739858 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 124739858 124739858 G A SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known nonsense c.1030 p.R344* 0.014 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 55 0 0 29 11 27.5 MKRN2 0 genome.wustl.edu 37 3 12613843 12613843 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 12613843 12613843 G A SNP MKRN2 ENST00000170447 human ensembl 74_37 +1 known missense c.613 p.D205N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 64 0 0 28 20 41.6667 ZXDC 0 genome.wustl.edu 37 3 126189737 126189737 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 126189737 126189737 C T SNP ZXDC ENST00000389709 human ensembl 74_37 -1 known splice_site c.1270+1 e4+1 1.000 - - - no_errors ZXDC HGNC ENSG00000070476 143 0 0 60 28 31.8182 PLXNA1 0 genome.wustl.edu 37 3 126751319 126751319 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 126751319 126751319 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.5321 p.S1774L 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 157 0 0 74 38 33.9286 TPRA1 0 genome.wustl.edu 37 3 127295857 127295857 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 127295857 127295857 C T SNP TPRA1 ENST00000355552 human ensembl 74_37 -1 known silent c.321 p.S107 0.007 pfam_Uncharacterised_TM-40 pfam_Uncharacterised_TM-40 - no_errors TPRA1 HGNC ENSG00000163870 123 1 0.806452 53 28 34.5679 PODXL2 0 genome.wustl.edu 37 3 127379708 127379708 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 127379708 127379708 C T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known silent c.837 p.F279 0.001 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 75 0 0 42 15 26.3158 MGLL 0 genome.wustl.edu 37 3 127500727 127500727 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 127500727 127500727 A T SNP MGLL ENST00000265052 human ensembl 74_37 -1 known missense c.167 p.F56Y 0.999 pfam_Lysophospholipase_put pfam_Lysophospholipase_put,pfam_AB_hydrolase_1,pfam_Lipase_3,pfam_Esterase_put,pfam_AB_hydrolase_3,prints_AB_hydrolase_1 - no_errors MGLL HGNC ENSG00000074416 82 0 0 29 17 36.9565 RUVBL1 0 genome.wustl.edu 37 3 127823693 127823693 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 127823693 127823693 G A SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.436 p.P146S 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 107 0 0 51 32 38.5542 RPN1 0 genome.wustl.edu 37 3 128339383 128339383 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 128339383 128339383 C T SNP RPN1 ENST00000296255 human ensembl 74_37 -1 known silent c.1695 p.S565 0.752 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 190 0 0 92 35 27.5591 RAB7A 0 genome.wustl.edu 37 3 128525422 128525422 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 128525422 128525422 G A SNP RAB7A ENST00000265062 human ensembl 74_37 +1 known missense c.388 p.E130K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7A HGNC ENSG00000075785 57 0 0 32 18 36 ENSG00000261159 0 genome.wustl.edu 37 3 128578695 128578695 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 128578695 128578695 C T SNP ENSG00000261159 ENST00000567253 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-723O4.9 Clone_based_vega_gene ENSG00000261159 18 0 0 12 5 29.4118 CAND2 0 genome.wustl.edu 37 3 12858123 12858123 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 12858123 12858123 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known silent c.1692 p.E564 0.757 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 112 0 0 46 36 43.9024 CAND2 0 genome.wustl.edu 37 3 12858461 12858461 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 12858461 12858461 A G SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.2030 p.D677G 0.975 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 86 0 0 42 22 34.375 CAND2 0 genome.wustl.edu 37 3 12858543 12858543 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 12858543 12858543 C T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known silent c.2112 p.N704 0.020 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 61 0 0 44 14 24.1379 KIAA1257 0 genome.wustl.edu 37 3 128706483 128706483 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 128706483 128706483 C T SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known missense c.643 p.D215N 0.010 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 96 0 0 68 36 34.6154 HMCES 0 genome.wustl.edu 37 3 129009603 129009603 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 129009603 129009603 A G SNP HMCES ENST00000383463 human ensembl 74_37 +1 known missense c.409 p.R137G 0.874 pfam_DUF159,superfamily_DUF159 pfam_DUF159,superfamily_DUF159 - no_errors HMCES HGNC ENSG00000183624 148 0 0 76 35 31.5315 EFCAB12 0 genome.wustl.edu 37 3 129137112 129137112 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 129137112 129137112 G A SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known silent c.666 p.I222 0.002 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 43 0 0 18 12 40 MBD4 0 genome.wustl.edu 37 3 129155520 129155520 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 129155520 129155520 A C SNP MBD4 ENST00000249910 human ensembl 74_37 -1 known missense c.967 p.F323V 0.000 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 117 0 0 79 53 40.1515 RHO 0 genome.wustl.edu 37 3 129247781 129247781 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 129247781 129247781 C T SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.205 p.R69C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 130 0 0 72 45 38.4615 PLXND1 0 genome.wustl.edu 37 3 129277299 129277299 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 129277299 129277299 C A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.5417 p.C1806F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 111 0 0 46 24 34.2857 PLXND1 0 genome.wustl.edu 37 3 129302495 129302495 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 129302495 129302495 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.2156 p.S719L 0.968 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 40 0 0 19 18 48.6486 IQSEC1 0 genome.wustl.edu 37 3 12955032 12955032 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 12955032 12955032 G A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.2254 p.R752W 0.919 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 55 0 0 21 10 32.2581 COL6A5 0 genome.wustl.edu 37 3 130095473 130095473 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130095473 130095473 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.461 p.S154L 0.373 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 17 0 0 20 6 23.0769 COL6A5 0 genome.wustl.edu 37 3 130095664 130095664 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130095664 130095664 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.652 p.D218N 0.001 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 40 0 0 26 7 21.2121 COL6A5 0 genome.wustl.edu 37 3 130159198 130159198 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130159198 130159198 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6016 p.D2006Y 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 51 0 0 30 16 34.7826 COL6A6 0 genome.wustl.edu 37 3 130284283 130284283 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130284283 130284283 C T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.1107 p.G369 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 180 0 0 84 39 31.7073 COL6A6 0 genome.wustl.edu 37 3 130290173 130290173 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130290173 130290173 T G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.2913 p.T971 0.711 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 79 0 0 42 34 44.7368 COL6A6 0 genome.wustl.edu 37 3 130361855 130361855 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130361855 130361855 C T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known nonsense c.5215 p.R1739* 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 36 0 0 21 12 36.3636 COL6A6 0 genome.wustl.edu 37 3 130368016 130368016 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130368016 130368016 T G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.5343 p.A1781 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 16 0 0 9 4 30.7692 PIK3R4 0 genome.wustl.edu 37 3 130442276 130442276 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130442276 130442276 C T SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.1963 p.E655K 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 86 0 0 67 27 28.7234 PIK3R4 0 genome.wustl.edu 37 3 130463973 130463973 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130463973 130463973 T G SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.90 p.K30N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 89 0 0 40 23 36.5079 ASTE1 0 genome.wustl.edu 37 3 130743446 130743446 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 130743446 130743446 G T SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.705 p.F235L 0.962 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 124 0 0 76 33 30.2752 NUDT16P1 0 genome.wustl.edu 37 3 131082221 131082221 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 131082221 131082221 C T SNP NUDT16P1 ENST00000499077 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NUDT16P Clone_based_vega_gene ENSG00000246082 34 0 0 19 6 24 DNAJC13 0 genome.wustl.edu 37 3 132166252 132166252 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132166252 132166252 A C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.232 p.K78Q 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 71 0 0 65 4 5.7971 DNAJC13 0 genome.wustl.edu 37 3 132172174 132172174 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132172174 132172174 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.570 p.I190 0.978 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 61 0 0 44 17 27.8689 DNAJC13 0 genome.wustl.edu 37 3 132241676 132241676 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132241676 132241676 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.5678 p.R1893Q 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 31 0 0 25 13 34.2105 ACKR4 0 genome.wustl.edu 37 3 132320115 132320115 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132320115 132320115 G A SNP ACKR4 ENST00000249887 human ensembl 74_37 +1 known missense c.874 p.A292T 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR4 HGNC ENSG00000129048 366 1 0.27248 276 68 19.7674 NPHP3 0 genome.wustl.edu 37 3 132401613 132401613 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132401613 132401613 T C SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.3746 p.Y1249C 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 98 0 0 75 41 35.3448 NPHP3 0 genome.wustl.edu 37 3 132403524 132403524 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132403524 132403524 C T SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known silent c.3444 p.K1148 1.000 pfam_TPR_1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 70 0 0 51 31 37.8049 NPHP3 0 genome.wustl.edu 37 3 132415633 132415633 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132415633 132415633 G A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.2113 p.R705C 1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 163 0 0 90 47 34.3066 NPHP3 0 genome.wustl.edu 37 3 132437924 132437924 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 132437924 132437924 C A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.584 p.S195I 1.000 NULL pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 128 0 0 84 37 30.5785 BFSP2 0 genome.wustl.edu 37 3 133185754 133185754 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 133185754 133185754 C T SNP BFSP2 ENST00000302334 human ensembl 74_37 +1 known missense c.974 p.S325L 0.442 pfam_IF pfam_IF,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 122 0 0 64 33 34.0206 NUP210 0 genome.wustl.edu 37 3 13372091 13372091 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 13372091 13372091 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.3979 p.E1327K 0.886 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 175 0 0 67 38 36.1905 NUP210 0 genome.wustl.edu 37 3 13417924 13417924 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 13417924 13417924 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.1160 p.R387Q 0.999 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 101 0 0 44 27 38.0282 KY 0 genome.wustl.edu 37 3 134327586 134327586 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 134327586 134327586 G T SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.995 p.S332Y 0.991 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 86 0 0 57 38 40 PPP2R3A 0 genome.wustl.edu 37 3 135863921 135863921 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 135863921 135863921 C A SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known silent c.3366 p.P1122 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 69 0 0 33 15 31.25 MSL2 0 genome.wustl.edu 37 3 135871511 135871511 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 135871511 135871511 T G SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.212 p.K71T 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 199 0 0 107 62 36.6864 PCCB 0 genome.wustl.edu 37 3 135974701 135974701 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 135974701 135974701 A G SNP PCCB ENST00000251654 human ensembl 74_37 +1 known missense c.187 p.K63E 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 128 0 0 74 26 26 PCCB 0 genome.wustl.edu 37 3 136046553 136046553 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 136046553 136046553 G T SNP PCCB ENST00000251654 human ensembl 74_37 +1 known missense c.1377 p.E459D 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 69 0 0 29 18 38.2979 STAG1 0 genome.wustl.edu 37 3 136240172 136240172 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 136240172 136240172 G A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known nonsense c.559 p.R187* 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 94 0 0 85 37 30.3279 FBLN2 0 genome.wustl.edu 37 3 13655629 13655629 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 13655629 13655629 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.1694 p.R565H 0.998 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 72 0 0 33 18 35.2941 NCK1 0 genome.wustl.edu 37 3 136646968 136646968 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 136646968 136646968 G A SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known missense c.125 p.R42Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 126 1 0.787402 62 46 42.5926 DZIP1L 0 genome.wustl.edu 37 3 137811252 137811252 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 137811252 137811252 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known silent c.843 p.V281 0.901 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 90 0 0 64 37 36.6337 ESYT3 0 genome.wustl.edu 37 3 138183346 138183346 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 138183346 138183346 G A SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.1075 p.E359K 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 83 0 0 46 24 34.2857 PIK3CB 0 genome.wustl.edu 37 3 138453486 138453486 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 138453486 138453486 C T SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.962 p.R321Q 0.998 smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 97 0 0 62 35 36.0825 COPB2 0 genome.wustl.edu 37 3 139085471 139085471 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 139085471 139085471 T G SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.1823 p.K608T 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 80 0 0 53 20 27.3973 FGD5P1 0 genome.wustl.edu 37 3 13978080 13978080 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 13978080 13978080 G A SNP FGD5P1 ENST00000502451 human ensembl 74_37 +1 known rna NULL NULL 0.399 - - - no_errors FGD5P1 HGNC ENSG00000250439 80 0 0 37 23 38.3333 TRIM42 0 genome.wustl.edu 37 3 140397213 140397213 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 140397213 140397213 C T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.142 p.R48W 0.046 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 201 0 0 118 64 35.1648 SLC25A36 0 genome.wustl.edu 37 3 140675425 140675425 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 140675425 140675425 G A SNP SLC25A36 ENST00000324194 human ensembl 74_37 +1 known missense c.98 p.R33Q 0.995 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 102 0 0 58 23 28.3951 SLC25A36 0 genome.wustl.edu 37 3 140675523 140675523 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 140675523 140675523 C A SNP SLC25A36 ENST00000324194 human ensembl 74_37 +1 known missense c.196 p.H66N 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 145 0 0 92 38 29.2308 TFDP2 0 genome.wustl.edu 37 3 141682680 141682680 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 141682680 141682680 G T SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known silent c.858 p.V286 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 168 0 0 93 49 34.507 TMEM43 0 genome.wustl.edu 37 3 14176277 14176277 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 14176277 14176277 C T SNP TMEM43 ENST00000306077 human ensembl 74_37 +1 known silent c.591 p.I197 0.978 pfam_TMEM43_fam pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 109 0 0 62 22 26.1905 LSM3 0 genome.wustl.edu 37 3 14223069 14223069 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 14223069 14223069 A G SNP LSM3 ENST00000306024 human ensembl 74_37 +1 known missense c.31 p.T11A 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM3 HGNC ENSG00000170860 192 0 0 114 39 25.4902 ATR 0 genome.wustl.edu 37 3 142231276 142231276 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 142231276 142231276 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.4678 p.D1560N 1.000 NULL 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 129 0 0 74 38 33.9286 ATR 0 genome.wustl.edu 37 3 142281952 142281952 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 142281952 142281952 C A SNP ATR ENST00000350721 human ensembl 74_37 -1 known splice_site c.293-1 e4-1 1.000 - - - no_errors ATR HGNC ENSG00000175054 129 0 0 80 40 33.3333 CNTN6 0 genome.wustl.edu 37 3 1425079 1425079 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 1425079 1425079 T G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2504 p.V835G 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 175 0 0 49 57 53.7736 TRPC1 0 genome.wustl.edu 37 3 142525010 142525010 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 142525010 142525010 G A SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.2315 p.R772Q 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 82 0 0 51 28 35.443 U2SURP 0 genome.wustl.edu 37 3 142775251 142775251 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 142775251 142775251 C T SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.3049 p.P1017S 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 31 0 0 21 11 34.375 SLC9A9 0 genome.wustl.edu 37 3 143271229 143271229 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 143271229 143271229 G A SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.1064 p.S355L 0.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 43 0 0 27 17 38.6364 SLC9A9 0 genome.wustl.edu 37 3 143550871 143550871 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 143550871 143550871 A G SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.368 p.I123T 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 40 0 0 22 15 40.5405 C3orf58 0 genome.wustl.edu 37 3 143708552 143708552 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 143708552 143708552 G T SNP C3orf58 ENST00000315691 human ensembl 74_37 +1 known nonsense c.1162 p.E388* 1.000 NULL NULL - no_errors C3orf58 HGNC ENSG00000181744 121 0 0 72 45 38.4615 GRIP2 0 genome.wustl.edu 37 3 14535218 14535218 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 14535218 14535218 G T SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors GRIP2 HGNC ENSG00000144596 15 0 0 10 7 41.1765 GRIP2 0 genome.wustl.edu 37 3 14561747 14561747 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 14561747 14561747 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors GRIP2 HGNC ENSG00000144596 59 0 0 33 3 8.33333 PLSCR4 0 genome.wustl.edu 37 3 145917772 145917772 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 145917772 145917772 T G SNP PLSCR4 ENST00000354952 human ensembl 74_37 -1 known missense c.452 p.Q151P 1.000 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 49 0 0 36 13 26.5306 CPB1 0 genome.wustl.edu 37 3 148577840 148577840 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 148577840 148577840 C A SNP CPB1 ENST00000476847 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors CPB1 HGNC ENSG00000153002 47 0 0 29 15 34.0909 GYG1 0 genome.wustl.edu 37 3 148714244 148714244 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 148714244 148714244 T G SNP GYG1 ENST00000345003 human ensembl 74_37 +1 known missense c.299 p.F100C 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 128 0 0 67 33 33 HLTF 0 genome.wustl.edu 37 3 148789221 148789221 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 148789221 148789221 T G SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.712 p.T238P 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 60 0 0 34 21 38.1818 HPS3 0 genome.wustl.edu 37 3 148868424 148868424 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 148868424 148868424 C T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.1202 p.A401V 0.989 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 103 0 0 45 22 32.8358 CP 0 genome.wustl.edu 37 3 148927157 148927157 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 148927157 148927157 C A SNP CP ENST00000264613 human ensembl 74_37 -1 known nonsense c.622 p.E208* 0.811 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 55 0 0 41 25 37.8788 CP 0 genome.wustl.edu 37 3 148928079 148928079 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 148928079 148928079 G A SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.482 p.A161V 0.025 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 128 0 0 80 37 31.6239 WWTR1 0 genome.wustl.edu 37 3 149238736 149238736 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 149238736 149238736 T C SNP WWTR1 ENST00000360632 human ensembl 74_37 -1 known silent c.1059 p.Q353 0.997 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWTR1 HGNC ENSG00000018408 244 0 0 135 62 31.4721 TSC22D2 0 genome.wustl.edu 37 3 150176284 150176284 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 150176284 150176284 C A SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known missense c.2204 p.S735Y 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 140 0 0 120 49 28.9941 SIAH2 0 genome.wustl.edu 37 3 150460058 150460058 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 150460058 150460058 G A SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.845 p.S282L 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 108 0 0 49 32 39.5062 CLRN1 0 genome.wustl.edu 37 3 150659437 150659437 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 150659437 150659437 T G SNP CLRN1 ENST00000328863 human ensembl 74_37 -1 known missense c.365 p.N122T 0.998 NULL NULL - no_errors CLRN1 HGNC ENSG00000163646 71 0 0 43 24 35.8209 P2RY14 0 genome.wustl.edu 37 3 150931482 150931482 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 150931482 150931482 G A SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known missense c.623 p.A208V 0.817 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 132 0 0 96 40 29.4118 P2RY13 0 genome.wustl.edu 37 3 151045839 151045839 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 151045839 151045839 C T SNP P2RY13 ENST00000325602 human ensembl 74_37 -1 known silent c.1005 p.K335 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 175 0 0 112 51 31.2883 MED12L 0 genome.wustl.edu 37 3 151127057 151127057 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 151127057 151127057 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known silent c.5742 p.L1914 1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 161 0 0 77 47 37.9032 IGSF10 0 genome.wustl.edu 37 3 151162770 151162770 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 151162770 151162770 A C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.4999 p.F1667V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 109 0 0 78 36 31.5789 IGSF10 0 genome.wustl.edu 37 3 151166641 151166641 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 151166641 151166641 T G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.1128 p.Q376H 0.536 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 95 0 0 55 33 37.5 AADAC 0 genome.wustl.edu 37 3 151542473 151542473 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 151542473 151542473 C A SNP AADAC ENST00000232892 human ensembl 74_37 +1 known missense c.454 p.H152N 0.998 pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 34 0 0 19 10 34.4828 TMEM14E 0 genome.wustl.edu 37 3 152058590 152058590 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 152058590 152058590 G A SNP TMEM14E ENST00000408960 human ensembl 74_37 -1 known missense c.104 p.S35F 0.000 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14E HGNC ENSG00000221962 79 0 0 60 34 36.1702 DHX36 0 genome.wustl.edu 37 3 154002448 154002448 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 154002448 154002448 T G SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.2216 p.K739T 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 22 0 0 18 11 37.931 DHX36 0 genome.wustl.edu 37 3 154002693 154002693 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 154002693 154002693 C A SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.2115 p.M705I 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 83 0 0 52 34 39.5349 DHX36 0 genome.wustl.edu 37 3 154042185 154042185 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 154042185 154042185 C A SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.21 p.Q7H 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 29 0 0 12 5 29.4118 METTL6 0 genome.wustl.edu 37 3 15457386 15457386 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 15457386 15457386 G A SNP METTL6 ENST00000383790 human ensembl 74_37 -1 known missense c.424 p.L142F 1.000 pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase - no_errors METTL6 HGNC ENSG00000206562 119 0 0 68 33 32.6733 EAF1-AS1 0 genome.wustl.edu 37 3 15492986 15492986 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 15492986 15492986 C A SNP EAF1-AS1 ENST00000608408 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors EAF1-AS1 HGNC ENSG00000249786 265 0 0 130 64 32.9897 PLCH1 0 genome.wustl.edu 37 3 155282900 155282900 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 155282900 155282900 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.837 p.T279 0.057 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 64 0 0 32 17 34.6939 PLCH1 0 genome.wustl.edu 37 3 155311814 155311814 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 155311814 155311814 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.350 p.R117H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 79 0 0 43 16 27.1186 BTD 0 genome.wustl.edu 37 3 15686453 15686453 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 15686453 15686453 A T SNP BTD ENST00000303498 human ensembl 74_37 +1 known missense c.1090 p.I364F 0.000 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 169 1 0.588235 83 46 35.6589 BTD 0 genome.wustl.edu 37 3 15686848 15686848 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 15686848 15686848 C T SNP BTD ENST00000303498 human ensembl 74_37 +1 known silent c.1485 p.I495 1.000 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 172 0 0 97 9 8.49057 VEPH1 0 genome.wustl.edu 37 3 156983335 156983335 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 156983335 156983335 G T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2245 p.L749M 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 89 0 0 67 24 26.3736 VEPH1 0 genome.wustl.edu 37 3 157081321 157081321 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 157081321 157081321 C A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known nonsense c.1567 p.E523* 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 182 0 0 126 15 10.6383 PTX3 0 genome.wustl.edu 37 3 157154792 157154792 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 157154792 157154792 G T SNP PTX3 ENST00000295927 human ensembl 74_37 +1 known missense c.70 p.D24Y 0.439 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC ENSG00000163661 155 0 0 95 45 32.1429 VEPH1 0 genome.wustl.edu 37 3 157188277 157188277 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 157188277 157188277 G T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known silent c.180 p.I60 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 220 0 0 110 67 37.8531 MLF1 0 genome.wustl.edu 37 3 158314734 158314734 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 158314734 158314734 C T SNP MLF1 ENST00000392822 human ensembl 74_37 +1 known silent c.372 p.F124 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 23 0 0 17 5 22.7273 MFSD1 0 genome.wustl.edu 37 3 158525240 158525240 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 158525240 158525240 G T SNP MFSD1 ENST00000415822 human ensembl 74_37 +1 known missense c.575 p.R192I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD1 HGNC ENSG00000118855 101 0 0 88 33 27.2727 SMC4 0 genome.wustl.edu 37 3 160122287 160122287 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 160122287 160122287 T G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.682 p.L228V 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 48 0 0 39 27 40.9091 GALNT15 0 genome.wustl.edu 37 3 16237352 16237352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 16237352 16237352 C T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.625 p.R209W 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 83 0 0 43 22 33.8462 GALNT15 0 genome.wustl.edu 37 3 16242239 16242239 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 16242239 16242239 G A SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.820 p.A274T 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 82 0 0 37 27 42.1875 RFTN1 0 genome.wustl.edu 37 3 16475491 16475491 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 16475491 16475491 C T SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.199 p.A67T 0.085 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 115 0 0 49 24 32.8767 SI 0 genome.wustl.edu 37 3 164758812 164758812 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 164758812 164758812 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.2075 p.R692H 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 152 0 0 100 44 30.5556 SI 0 genome.wustl.edu 37 3 164758856 164758856 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 164758856 164758856 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.2031 p.Q677 0.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 141 0 0 110 47 29.9363 ZBBX 0 genome.wustl.edu 37 3 167086357 167086357 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 167086357 167086357 G A SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.74 p.A25V 0.039 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 69 0 0 46 24 34.2857 SERPINI2 0 genome.wustl.edu 37 3 167185069 167185069 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 167185069 167185069 T G SNP SERPINI2 ENST00000264677 human ensembl 74_37 -1 known missense c.252 p.E84D 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 41 0 0 28 18 39.1304 WDR49 0 genome.wustl.edu 37 3 167246875 167246875 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 167246875 167246875 C T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1315 p.D439N 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 WDR49 HGNC ENSG00000174776 79 0 0 48 13 21.3115 WDR49 0 genome.wustl.edu 37 3 167293770 167293770 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 167293770 167293770 C A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.422 p.S141I 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 204 0 0 102 60 37.037 GOLIM4 0 genome.wustl.edu 37 3 167750634 167750634 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 167750634 167750634 G A SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known nonsense c.850 p.R284* 0.202 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 164 0 0 72 36 33.3333 MECOM 0 genome.wustl.edu 37 3 168802737 168802737 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 168802737 168802737 G A SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.3653 p.A1218V 0.997 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 176 0 0 105 49 31.8182 MECOM 0 genome.wustl.edu 37 3 169381209 169381209 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169381209 169381209 C A SNP MECOM ENST00000485957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MECOM HGNC ENSG00000085276 19 0 0 2 2 50 ACTRT3 0 genome.wustl.edu 37 3 169485577 169485577 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169485577 169485577 A G SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known silent c.762 p.C254 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 110 0 0 83 41 33.0645 MYNN 0 genome.wustl.edu 37 3 169496751 169496751 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169496751 169496751 G T SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.462 p.E154D 0.999 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 60 0 0 46 12 20.6897 LRRC34 0 genome.wustl.edu 37 3 169513321 169513321 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169513321 169513321 G T SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.1143 p.F381L 0.260 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 48 0 0 39 17 30.3571 LRRC34 0 genome.wustl.edu 37 3 169525456 169525456 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169525456 169525456 C T SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.299 p.R100H 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 78 0 0 37 23 38.3333 LRRIQ4 0 genome.wustl.edu 37 3 169539922 169539922 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169539922 169539922 G T SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.213 p.K71N 0.005 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 161 0 0 91 40 30.5344 GPR160 0 genome.wustl.edu 37 3 169801785 169801785 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 169801785 169801785 T C SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known missense c.25 p.C9R 0.942 NULL pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 115 0 0 86 29 25.2174 RPL22L1 0 genome.wustl.edu 37 3 170584266 170584266 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 170584266 170584266 C T SNP RPL22L1 ENST00000295830 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22L1 HGNC ENSG00000163584 9 0 0 4 4 50 TNIK 0 genome.wustl.edu 37 3 170797352 170797352 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 170797352 170797352 A G SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.3403 p.W1135R 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 37 0 0 36 6 14.2857 TNIK 0 genome.wustl.edu 37 3 170805225 170805225 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 170805225 170805225 T C SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.2792 p.D931G 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 120 0 0 92 34 26.9841 TNIK 0 genome.wustl.edu 37 3 171087468 171087468 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 171087468 171087468 C T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.64 p.A22T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 12 0 0 5 4 44.4444 PLD1 0 genome.wustl.edu 37 3 171427395 171427395 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 171427395 171427395 C T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.1016 p.R339Q 1.000 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 127 0 0 105 37 26.0563 PLD1 0 genome.wustl.edu 37 3 171453312 171453312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 171453312 171453312 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.404 p.A135V 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox 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 112 0 0 80 26 24.5283 ECT2 0 genome.wustl.edu 37 3 172520655 172520655 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 172520655 172520655 A C SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1898 p.N633T 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 60 0 0 49 15 23.4375 NLGN1 0 genome.wustl.edu 37 3 173996827 173996827 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 173996827 173996827 G T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1156 p.D386Y 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 245 0 0 167 83 33.2 TBL1XR1 0 genome.wustl.edu 37 3 176769307 176769307 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 176769307 176769307 C T SNP TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known missense c.412 p.A138T 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 115 0 0 78 28 26.4151 PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1035 p.N345K 1.000 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 94 0 0 70 28 28.5714 KCNMB3 0 genome.wustl.edu 37 3 178960766 178960766 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 178960766 178960766 C A SNP KCNMB3 ENST00000314235 human ensembl 74_37 -1 known missense c.766 p.V256L 0.000 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 120 0 0 93 41 30.597 ZNF639 0 genome.wustl.edu 37 3 179047499 179047499 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 179047499 179047499 A C SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known missense c.152 p.K51T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 119 0 0 145 10 6.45161 ZNF639 0 genome.wustl.edu 37 3 179051273 179051273 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 179051273 179051273 A C SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known missense c.521 p.K174T 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 102 0 0 56 38 40.4255 MFN1 0 genome.wustl.edu 37 3 179066690 179066690 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 179066690 179066690 G A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known silent c.51 p.A17 0.374 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 253 0 0 140 72 33.9623 GNB4 0 genome.wustl.edu 37 3 179132743 179132743 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 179132743 179132743 G A SNP GNB4 ENST00000232564 human ensembl 74_37 -1 known silent c.360 p.I120 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB4 HGNC ENSG00000114450 309 0 0 168 84 33.3333 MRPL47 0 genome.wustl.edu 37 3 179306726 179306726 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 179306726 179306726 C A SNP MRPL47 ENST00000476781 human ensembl 74_37 -1 known missense c.687 p.K229N 0.999 NULL pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 98 0 0 54 38 41.3043 NDUFB5 0 genome.wustl.edu 37 3 179341795 179341795 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 179341795 179341795 T G SNP NDUFB5 ENST00000259037 human ensembl 74_37 +1 known missense c.537 p.I179M 0.997 pfam_NADH_UbQ_OxRdtase_B5_su pfam_NADH_UbQ_OxRdtase_B5_su - no_errors NDUFB5 HGNC ENSG00000136521 119 0 0 74 36 32.7273 CCDC39 0 genome.wustl.edu 37 3 180366038 180366038 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 180366038 180366038 G A SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1277 p.T426I 0.998 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 79 0 0 54 40 42.5532 ATP11B 0 genome.wustl.edu 37 3 182635851 182635851 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 182635851 182635851 A G SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.3493 p.S1165G 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 107 0 0 79 41 34.1667 DCUN1D1 0 genome.wustl.edu 37 3 182679035 182679035 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 182679035 182679035 T C SNP DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known missense c.499 p.N167D 1.000 pfam_PONY_dom pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 299 0 0 182 99 35.2313 DCUN1D1 0 genome.wustl.edu 37 3 182681709 182681709 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 182681709 182681709 A G SNP DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known missense c.349 p.F117L 1.000 NULL pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 96 0 0 71 27 27.551 MCF2L2 0 genome.wustl.edu 37 3 182946141 182946141 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 182946141 182946141 C A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known nonsense c.2059 p.E687* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 65 0 0 47 23 32.8571 B3GNT5 0 genome.wustl.edu 37 3 182988416 182988416 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 182988416 182988416 C A SNP B3GNT5 ENST00000326505 human ensembl 74_37 +1 known nonsense c.830 p.S277* 0.806 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 113 0 0 64 28 30.4348 KLHL6 0 genome.wustl.edu 37 3 183273245 183273245 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 183273245 183273245 C T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.197 p.R66Q 0.668 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 233 0 0 123 69 35.9375 YEATS2 0 genome.wustl.edu 37 3 183528314 183528314 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 183528314 183528314 T C SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known silent c.4212 p.I1404 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 53 0 0 41 15 26.7857 EIF2B5 0 genome.wustl.edu 37 3 183854515 183854515 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 183854515 183854515 A C SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.311 p.E104A 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 329 0 0 184 78 29.771 EIF2B5 0 genome.wustl.edu 37 3 183856022 183856022 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 183856022 183856022 C A SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known silent c.753 p.I251 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 112 0 0 48 26 35.1351 DVL3 0 genome.wustl.edu 37 3 183884050 183884050 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 183884050 183884050 A G SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.900 p.L300 0.952 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 136 0 0 76 35 31.5315 ECE2 0 genome.wustl.edu 37 3 183976237 183976237 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 183976237 183976237 C T SNP ECE2 ENST00000324557 human ensembl 74_37 +1 known silent c.642 p.G214 0.602 NULL pfam_Methyltransf_11,pfam_Methyltransf_12 - no_errors ECE2 HGNC ENSG00000145194 275 0 0 125 59 32.0652 EIF4G1 0 genome.wustl.edu 37 3 184041688 184041688 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 184041688 184041688 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.2416 p.D806Y 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 147 0 0 76 43 36.1345 THPO 0 genome.wustl.edu 37 3 184090679 184090679 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 184090679 184090679 C A SNP THPO ENST00000204615 human ensembl 74_37 -1 known missense c.684 p.K228N 1.000 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 124 0 0 50 18 26.4706 CHRD 0 genome.wustl.edu 37 3 184102385 184102385 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 184102385 184102385 C T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1501 p.L501F 1.000 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 251 0 0 76 60 44.1176 SATB1 0 genome.wustl.edu 37 3 18427971 18427971 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 18427971 18427971 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1339 p.E447K 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 155 0 0 103 39 27.4648 EPHB3 0 genome.wustl.edu 37 3 184298943 184298943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 184298943 184298943 G A SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.2722 p.A908T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 176 1 0.564972 66 37 35.9223 EHHADH 0 genome.wustl.edu 37 3 184953175 184953175 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 184953175 184953175 C A SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known missense c.254 p.R85I 0.433 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 62 0 0 29 27 48.2143 MAP3K13 0 genome.wustl.edu 37 3 185161334 185161334 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 185161334 185161334 G A SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.761 p.R254Q 0.998 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 147 0 0 94 51 35.1724 IGF2BP2 0 genome.wustl.edu 37 3 185416116 185416116 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 185416116 185416116 G A SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known nonsense c.259 p.R87* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 62 0 0 40 12 23.0769 ETV5 0 genome.wustl.edu 37 3 185797681 185797681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 185797681 185797681 G A SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.701 p.A234V 0.968 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 111 0 0 81 42 34.1463 CRYGS 0 genome.wustl.edu 37 3 186257252 186257252 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 186257252 186257252 C T SNP CRYGS ENST00000307944 human ensembl 74_37 -1 known silent c.156 p.R52 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGS HGNC ENSG00000213139 118 0 0 46 29 38.6667 KNG1 0 genome.wustl.edu 37 3 186445091 186445091 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 186445091 186445091 T G SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.630 p.N210K 0.143 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 108 0 0 74 37 33.3333 KNG1 0 genome.wustl.edu 37 3 186459654 186459654 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 186459654 186459654 T C SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.1469 p.V490A 0.364 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 56 0 0 30 19 38.7755 MASP1 0 genome.wustl.edu 37 3 186954160 186954160 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 186954160 186954160 C T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1499 p.R500H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 115 0 0 48 31 39.2405 RTP4 0 genome.wustl.edu 37 3 187088673 187088673 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 187088673 187088673 C T SNP RTP4 ENST00000259030 human ensembl 74_37 +1 known missense c.253 p.R85C 0.158 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 77 0 0 37 8 17.7778 RTP4 0 genome.wustl.edu 37 3 187088944 187088944 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 187088944 187088944 A C SNP RTP4 ENST00000259030 human ensembl 74_37 +1 known missense c.524 p.K175T 0.000 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 80 0 0 48 10 17.2414 RTP2 0 genome.wustl.edu 37 3 187416459 187416459 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 187416459 187416459 C T SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known missense c.505 p.E169K 0.998 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 80 0 0 51 22 30.137 TP63 0 genome.wustl.edu 37 3 189526302 189526302 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 189526302 189526302 C T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.566 p.S189L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 107 0 0 54 42 43.75 LEPREL1 0 genome.wustl.edu 37 3 189691761 189691761 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 189691761 189691761 T C SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known silent c.1485 p.G495 0.986 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 262 1 0.380228 223 28 11.1554 LEPREL1 0 genome.wustl.edu 37 3 189700850 189700850 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 189700850 189700850 G A SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known nonsense c.1309 p.R437* 0.474 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 131 0 0 91 46 33.5766 LEPREL1 0 genome.wustl.edu 37 3 189702354 189702354 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 189702354 189702354 C T SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1214 p.R405Q 0.988 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 111 0 0 96 33 25.5814 LEPREL1 0 genome.wustl.edu 37 3 189838069 189838069 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 189838069 189838069 T G SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.452 p.Y151S 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 28 0 0 10 6 37.5 IL1RAP 0 genome.wustl.edu 37 3 190326850 190326850 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 190326850 190326850 T C SNP IL1RAP ENST00000443369 human ensembl 74_37 +1 known silent c.417 p.N139 0.914 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 109 0 0 95 41 30.1471 UTS2B 0 genome.wustl.edu 37 3 190993102 190993102 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 190993102 190993102 C T SNP UTS2B ENST00000425357 human ensembl 74_37 -1 known missense c.235 p.E79K 0.000 NULL NULL - no_errors UTS2B HGNC ENSG00000188958 157 0 0 110 60 35.2941 MB21D2 0 genome.wustl.edu 37 3 192517304 192517304 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 192517304 192517304 A G SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.347 p.M116T 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 97 0 0 53 23 30.2632 ATP13A4 0 genome.wustl.edu 37 3 193176841 193176841 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 193176841 193176841 C A SNP ATP13A4 ENST00000295548 human ensembl 74_37 -1 known missense c.1703 p.R568I 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 169 1 0.588235 98 42 30 ATP13A4 0 genome.wustl.edu 37 3 193182749 193182749 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 193182749 193182749 T G SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.1441 p.N481H 0.998 pfam_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 185 0 0 93 45 32.6087 ATP13A4 0 genome.wustl.edu 37 3 193232644 193232644 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 193232644 193232644 C A SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.77 p.R26L 1.000 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 97 0 0 46 17 26.9841 ATP13A3 0 genome.wustl.edu 37 3 194140694 194140694 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 194140694 194140694 A C SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.3316 p.F1106V 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 11 0 0 13 12 48 ATP13A3 0 genome.wustl.edu 37 3 194169269 194169269 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 194169269 194169269 C T SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.1067 p.R356Q 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 111 0 0 51 28 35.443 TMEM44 0 genome.wustl.edu 37 3 194349195 194349195 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 194349195 194349195 A C SNP TMEM44 ENST00000392432 human ensembl 74_37 -1 known missense c.181 p.S61A 0.976 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 34 0 0 15 8 34.7826 MUC4 0 genome.wustl.edu 37 3 195538749 195538749 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 195538749 195538749 T C SNP MUC4 ENST00000478685 human ensembl 74_37 -1 putative rna NULL NULL 0.034 - - - no_errors MUC4 HGNC ENSG00000145113 35 0 0 13 16 55.1724 TNK2 0 genome.wustl.edu 37 3 195613863 195613863 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 195613863 195613863 C A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.408 p.K136N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 204 0 0 87 29 25 TFRC 0 genome.wustl.edu 37 3 195787075 195787075 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 195787075 195787075 C T SNP TFRC ENST00000360110 human ensembl 74_37 -1 known silent c.1512 p.T504 0.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 36 0 0 22 13 37.1429 SLC51A 0 genome.wustl.edu 37 3 195955063 195955063 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 195955063 195955063 C T SNP SLC51A ENST00000296327 human ensembl 74_37 +1 known missense c.440 p.T147M 0.979 pfam_Ost-alpha pfam_Ost-alpha - no_errors SLC51A HGNC ENSG00000163959 305 0 0 136 60 30.6122 RNF168 0 genome.wustl.edu 37 3 196214416 196214416 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196214416 196214416 C A SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known nonsense c.412 p.E138* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 180 0 0 100 53 34.6405 WDR53 0 genome.wustl.edu 37 3 196287914 196287914 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196287914 196287914 G A SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known missense c.433 p.R145W 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,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 169 0 0 111 36 24.4898 WDR53 0 genome.wustl.edu 37 3 196288018 196288018 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196288018 196288018 G A SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known missense c.329 p.A110V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 216 0 0 133 42 24 FBXO45 0 genome.wustl.edu 37 3 196311019 196311019 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196311019 196311019 C T SNP FBXO45 ENST00000311630 human ensembl 74_37 +1 known nonsense c.691 p.R231* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom - no_errors FBXO45 HGNC ENSG00000174013 79 0 0 48 25 34.2466 PIGX 0 genome.wustl.edu 37 3 196457961 196457961 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196457961 196457961 T G SNP PIGX ENST00000296333 human ensembl 74_37 +1 known missense c.685 p.S229A 0.997 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 - no_errors PIGX HGNC ENSG00000163964 34 0 0 32 15 31.9149 DLG1 0 genome.wustl.edu 37 3 196812540 196812540 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196812540 196812540 A C SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.1848 p.I616M 0.993 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 135 1 0.735294 94 45 32.3741 DLG1 0 genome.wustl.edu 37 3 196888575 196888575 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 196888575 196888575 A G SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.518 p.V173A 1.000 pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 32 0 0 16 9 36 EFHB 0 genome.wustl.edu 37 3 19924060 19924060 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 19924060 19924060 C A SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.2310 p.K770N 0.819 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 26 0 0 17 5 22.7273 NR1D2 0 genome.wustl.edu 37 3 24003483 24003483 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 24003483 24003483 G A SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known missense c.533 p.R178H 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 50 0 0 31 16 34.0426 LINC00691 0 genome.wustl.edu 37 3 24138650 24138650 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 24138650 24138650 G A SNP LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.303 - - - no_errors LINC00691 HGNC ENSG00000224074 24 0 0 21 3 12.5 THRB 0 genome.wustl.edu 37 3 24169075 24169075 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 24169075 24169075 G T SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.1059 p.I353 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 185 1 0.537634 146 21 12.5749 THRB 0 genome.wustl.edu 37 3 24188225 24188225 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 24188225 24188225 C T SNP THRB ENST00000356447 human ensembl 74_37 -1 known missense c.473 p.R158Q 0.983 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 107 0 0 61 40 39.604 RARB 0 genome.wustl.edu 37 3 25542770 25542770 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 25542770 25542770 A C SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.425 p.Y142S 1.000 pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 109 0 0 58 31 34.8315 LRRC3B 0 genome.wustl.edu 37 3 26751587 26751587 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 26751587 26751587 A C SNP LRRC3B ENST00000396641 human ensembl 74_37 +1 known missense c.424 p.I142L 0.996 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3B HGNC ENSG00000179796 61 0 0 31 10 24.3902 SLC4A7 0 genome.wustl.edu 37 3 27439829 27439829 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 27439829 27439829 G A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.2443 p.R815C 0.957 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 119 0 0 67 41 37.963 SLC4A7 0 genome.wustl.edu 37 3 27446338 27446338 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 27446338 27446338 A C SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.2058 p.I686M 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 51 0 0 35 17 32.6923 SLC4A7 0 genome.wustl.edu 37 3 27465554 27465554 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 27465554 27465554 C A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known nonsense c.1240 p.E414* 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 75 0 0 46 27 36.9863 ZCWPW2 0 genome.wustl.edu 37 3 28454570 28454570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 28454570 28454570 A C SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.11 p.E4A 0.055 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 52 0 0 52 23 30.6667 ZCWPW2 0 genome.wustl.edu 37 3 28562602 28562602 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 28562602 28562602 G A SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.904 p.E302K 0.778 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 30 0 0 16 10 38.4615 RBMS3 0 genome.wustl.edu 37 3 29529985 29529985 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 29529985 29529985 G A SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.302 p.C101Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 64 0 0 48 34 41.4634 RBMS3 0 genome.wustl.edu 37 3 29628640 29628640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 29628640 29628640 G A SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.343 p.A115T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 68 0 0 45 15 25 GADL1 0 genome.wustl.edu 37 3 30842400 30842400 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 30842400 30842400 G A SNP GADL1 ENST00000282538 human ensembl 74_37 -1 known missense c.1231 p.R411C 0.982 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GADL1 HGNC ENSG00000144644 81 0 0 50 21 29.5775 IL5RA 0 genome.wustl.edu 37 3 3137010 3137010 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 3137010 3137010 T C SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.828 p.I276M 0.002 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 49 0 0 17 16 48.4848 ZNF860 0 genome.wustl.edu 37 3 32031257 32031257 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 32031257 32031257 C A SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.686 p.S229Y 0.240 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 98 0 0 32 76 70.3704 ZNF860 0 genome.wustl.edu 37 3 32032333 32032333 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 32032333 32032333 C A SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.1762 p.H588N 0.972 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 ZNF860 HGNC ENSG00000197385 12 0 0 19 5 20.8333 DYNC1LI1 0 genome.wustl.edu 37 3 32568352 32568352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 32568352 32568352 C T SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.1511 p.R504Q 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 125 0 0 75 26 25.7426 TRIM71 0 genome.wustl.edu 37 3 32932065 32932065 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 32932065 32932065 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.1369 p.D457N 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 176 0 0 87 35 28.6885 SUSD5 0 genome.wustl.edu 37 3 33194681 33194681 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 33194681 33194681 A C SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known silent c.1443 p.S481 0.470 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 58 0 0 31 19 38 ARPP21 0 genome.wustl.edu 37 3 35748466 35748466 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 35748466 35748466 A G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.687 p.I229M 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 77 0 0 52 24 31.5789 ARPP21 0 genome.wustl.edu 37 3 35748563 35748563 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 35748563 35748563 G T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known nonsense c.784 p.E262* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 76 0 0 53 19 26.3889 STAC 0 genome.wustl.edu 37 3 36570207 36570207 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 36570207 36570207 C A SNP STAC ENST00000273183 human ensembl 74_37 +1 known missense c.940 p.L314I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 26 0 0 14 15 51.7241 DCLK3 0 genome.wustl.edu 37 3 36779482 36779482 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 36779482 36779482 C A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.669 p.K223N 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 158 0 0 84 49 36.8421 TRANK1 0 genome.wustl.edu 37 3 36874329 36874329 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 36874329 36874329 C A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known nonsense c.6613 p.E2205* 0.108 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 58 0 0 34 17 33.3333 TRANK1 0 genome.wustl.edu 37 3 36875232 36875232 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 36875232 36875232 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.5710 p.R1904C 0.002 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 162 0 0 79 30 27.5229 GOLGA4 0 genome.wustl.edu 37 3 37366074 37366074 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 37366074 37366074 G T SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.2697 p.Q899H 0.227 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 81 0 0 61 7 10.2941 VILL 0 genome.wustl.edu 37 3 38039783 38039783 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38039783 38039783 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.870 p.G290 0.995 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 112 0 0 50 21 29.5775 PLCD1 0 genome.wustl.edu 37 3 38051969 38051969 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38051969 38051969 C T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.938 p.R313H 0.692 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 86 0 0 47 4 7.84314 ACAA1 0 genome.wustl.edu 37 3 38164477 38164477 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38164477 38164477 T C SNP ACAA1 ENST00000451419 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACAA1 HGNC ENSG00000060971 47 0 0 25 8 24.2424 SCN5A 0 genome.wustl.edu 37 3 38593041 38593041 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38593041 38593041 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4822 p.L1608I 1.000 pfam_Ion_trans_dom 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 154 0 0 62 31 33.3333 SCN5A 0 genome.wustl.edu 37 3 38628975 38628975 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38628975 38628975 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.2352 p.F784 1.000 pfam_Ion_trans_dom 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 62 0 0 27 24 47.0588 SCN10A 0 genome.wustl.edu 37 3 38793713 38793713 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38793713 38793713 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.1752 p.V584 0.859 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 149 0 0 65 25 27.7778 SCN11A 0 genome.wustl.edu 37 3 38961476 38961476 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 38961476 38961476 C A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.909 p.K303N 0.818 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 68 0 0 51 24 32 XIRP1 0 genome.wustl.edu 37 3 39229433 39229433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 39229433 39229433 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.1504 p.E502K 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 225 0 0 100 51 33.7748 CCR8 0 genome.wustl.edu 37 3 39373970 39373970 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 39373970 39373970 C A SNP CCR8 ENST00000326306 human ensembl 74_37 +1 known missense c.148 p.L50I 0.944 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt - no_errors CCR8 HGNC ENSG00000179934 241 0 0 179 24 11.8227 ZNF621 0 genome.wustl.edu 37 3 40571778 40571778 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 40571778 40571778 A G SNP ZNF621 ENST00000339296 human ensembl 74_37 +1 known missense c.230 p.D77G 0.973 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 ZNF621 HGNC ENSG00000172888 123 0 0 79 5 5.95238 CTNNB1 0 genome.wustl.edu 37 3 41277291 41277291 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 41277291 41277291 G A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1760 p.R587Q 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 202 0 0 146 58 28.4314 ULK4 0 genome.wustl.edu 37 3 41756778 41756778 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 41756778 41756778 C T SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.2585 p.R862Q 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 74 0 0 60 23 27.7108 ULK4 0 genome.wustl.edu 37 3 41957545 41957545 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 41957545 41957545 C A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known splice_site c.728-1 e7-1 0.987 - - - no_errors ULK4 HGNC ENSG00000168038 56 0 0 40 18 31.0345 CCK 0 genome.wustl.edu 37 3 42305056 42305056 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42305056 42305056 C T SNP CCK ENST00000334681 human ensembl 74_37 -1 known missense c.67 p.V23M 0.000 pfam_Gastrin pfam_Gastrin,smart_Gastrin - no_errors CCK HGNC ENSG00000187094 32 0 0 22 8 26.6667 NKTR 0 genome.wustl.edu 37 3 42680746 42680746 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42680746 42680746 G A SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.3550 p.E1184K 0.265 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 106 0 0 55 27 32.9268 NKTR 0 genome.wustl.edu 37 3 42684043 42684043 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42684043 42684043 G A SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.4097 p.R1366Q 0.997 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 108 0 0 63 33 34.375 ZBTB47 0 genome.wustl.edu 37 3 42705409 42705409 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42705409 42705409 G A SNP ZBTB47 ENST00000232974 human ensembl 74_37 +1 known missense c.1858 p.D620N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 36 0 0 14 4 22.2222 KLHL40 0 genome.wustl.edu 37 3 42730438 42730438 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42730438 42730438 G A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.1499 p.R500H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 90 0 0 49 15 23.4375 CYP8B1 0 genome.wustl.edu 37 3 42916094 42916094 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42916094 42916094 G A SNP CYP8B1 ENST00000316161 human ensembl 74_37 -1 known silent c.1215 p.Y405 0.697 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 277 0 0 140 56 28.5714 ZNF662 0 genome.wustl.edu 37 3 42956704 42956704 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 42956704 42956704 G A SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known missense c.1217 p.R406K 1.000 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 ZNF662 HGNC ENSG00000182983 99 0 0 66 33 33.3333 POMGNT2 0 genome.wustl.edu 37 3 43121449 43121449 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 43121449 43121449 G A SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.1475 p.A492V 1.000 superfamily_Fibronectin_type3 pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 149 0 0 65 33 33.6735 ZNF445 0 genome.wustl.edu 37 3 44490137 44490137 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44490137 44490137 C T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known silent c.1026 p.A342 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 107 0 0 72 33 31.4286 ZNF445 0 genome.wustl.edu 37 3 44490186 44490186 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44490186 44490186 T C SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.977 p.E326G 0.030 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 64 0 0 41 15 26.7857 ZNF852 0 genome.wustl.edu 37 3 44541093 44541093 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44541093 44541093 G A SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known silent c.1176 p.F392 0.892 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF852 HGNC ENSG00000178917 76 0 0 34 15 30.6122 ZNF852 0 genome.wustl.edu 37 3 44541327 44541327 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44541327 44541327 G T SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known silent c.942 p.L314 0.080 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 ZNF852 HGNC ENSG00000178917 83 0 0 39 26 40 ZNF852 0 genome.wustl.edu 37 3 44541481 44541481 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44541481 44541481 C A SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known missense c.788 p.R263I 0.995 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF852 HGNC ENSG00000178917 44 0 0 26 11 29.7297 ZNF852 0 genome.wustl.edu 37 3 44544100 44544100 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44544100 44544100 C T SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known missense c.76 p.A26T 0.000 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 ZNF852 HGNC ENSG00000178917 33 0 0 19 7 26.9231 ZKSCAN7 0 genome.wustl.edu 37 3 44612641 44612641 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44612641 44612641 T C SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.2039 p.V680A 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 184 0 0 102 49 32.4503 ZKSCAN7 0 genome.wustl.edu 37 3 44612818 44612818 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44612818 44612818 G A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.2216 p.R739Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 149 0 0 80 33 29.2035 ZNF35 0 genome.wustl.edu 37 3 44700935 44700935 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44700935 44700935 G A SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known silent c.1080 p.K360 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 79 0 0 44 21 32.3077 ZNF35 0 genome.wustl.edu 37 3 44700985 44700985 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44700985 44700985 T G SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.1130 p.L377R 0.887 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 104 0 0 42 28 40 ZNF35 0 genome.wustl.edu 37 3 44701252 44701252 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44701252 44701252 G T SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.1397 p.R466I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 128 0 0 69 29 29.5918 ZNF502 0 genome.wustl.edu 37 3 44763241 44763241 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44763241 44763241 C T SNP ZNF502 ENST00000296091 human ensembl 74_37 +1 known missense c.932 p.T311M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 288 0 0 132 79 37.4408 KIF15 0 genome.wustl.edu 37 3 44816777 44816777 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44816777 44816777 C T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known nonsense c.94 p.R32* 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 173 0 0 97 30 23.622 KIF15 0 genome.wustl.edu 37 3 44816783 44816783 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 44816783 44816783 C T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.100 p.R34C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 176 0 0 102 33 24.4444 EXOSC7 0 genome.wustl.edu 37 3 45038655 45038655 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 45038655 45038655 C T SNP EXOSC7 ENST00000265564 human ensembl 74_37 +1 known missense c.331 p.R111W 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 171 0 0 89 39 30.4688 CCR9 0 genome.wustl.edu 37 3 45943167 45943167 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 45943167 45943167 A C SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.887 p.D296A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 141 0 0 59 31 34.4444 CXCR6 0 genome.wustl.edu 37 3 45988319 45988319 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 45988319 45988319 T C SNP CXCR6 ENST00000304552 human ensembl 74_37 +1 known missense c.346 p.S116P 0.879 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR6 HGNC ENSG00000172215 397 0 0 243 83 25.4601 PRSS50 0 genome.wustl.edu 37 3 46754462 46754462 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 46754462 46754462 G A SNP PRSS50 ENST00000315170 human ensembl 74_37 -1 known missense c.850 p.P284S 0.006 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS50 HGNC ENSG00000206549 322 0 0 155 57 26.8868 SETD2 0 genome.wustl.edu 37 3 47125869 47125869 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47125869 47125869 T C SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.5401 p.I1801V 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 34 0 0 30 9 23.0769 SETD2 0 genome.wustl.edu 37 3 47164507 47164507 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47164507 47164507 C T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.1619 p.R540Q 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 135 1 0.735294 98 52 34.6667 KIF9 0 genome.wustl.edu 37 3 47278109 47278109 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47278109 47278109 C T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1925 p.G642D 0.989 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 59 0 0 21 16 43.2432 SMARCC1 0 genome.wustl.edu 37 3 47651782 47651782 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47651782 47651782 G A SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known silent c.2817 p.R939 0.996 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 302 0 0 137 74 35.0711 SMARCC1 0 genome.wustl.edu 37 3 47730897 47730897 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47730897 47730897 T C SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1243 p.T415A 0.987 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 55 0 0 34 7 17.0732 SMARCC1 0 genome.wustl.edu 37 3 47734780 47734780 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47734780 47734780 C A SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1176 p.K392N 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 93 0 0 70 23 24.7312 DHX30 0 genome.wustl.edu 37 3 47891144 47891144 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47891144 47891144 A G SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.3216 p.R1072 0.999 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 116 0 0 43 37 46.25 MAP4 0 genome.wustl.edu 37 3 47950746 47950746 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47950746 47950746 C T SNP MAP4 ENST00000264724 human ensembl 74_37 -1 known missense c.986 p.R329Q 0.000 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 142 0 0 87 30 25.641 MAP4 0 genome.wustl.edu 37 3 47951028 47951028 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 47951028 47951028 T C SNP MAP4 ENST00000264724 human ensembl 74_37 -1 known missense c.704 p.D235G 0.018 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 240 0 0 134 99 42.4893 CAMP 0 genome.wustl.edu 37 3 48266793 48266793 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 48266793 48266793 G T SNP CAMP ENST00000296435 human ensembl 74_37 +1 known missense c.401 p.R134I 0.000 NULL pfam_Cathelicidin,pfam_Cathlecidin_C - no_errors CAMP HGNC ENSG00000164047 266 0 0 152 73 32.4444 FBXW12 0 genome.wustl.edu 37 3 48420978 48420978 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 48420978 48420978 T C SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known missense c.704 p.V235A 0.000 superfamily_Quino_amine_DH_bsu pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 311 0 0 152 83 35.3191 PLXNB1 0 genome.wustl.edu 37 3 48465339 48465339 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 48465339 48465339 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.682 p.A228T 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 70 0 0 34 9 20.9302 COL7A1 0 genome.wustl.edu 37 3 48626118 48626118 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 48626118 48626118 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.2544 p.V848 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 105 0 0 59 32 35.1648 CELSR3 0 genome.wustl.edu 37 3 48694593 48694593 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 48694593 48694593 A C SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3937 p.F1313V 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 70 0 0 30 16 34.7826 ARIH2 0 genome.wustl.edu 37 3 49006041 49006041 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49006041 49006041 G T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known nonsense c.613 p.E205* 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 215 0 0 128 62 32.6316 LAMB2 0 genome.wustl.edu 37 3 49162014 49162014 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49162014 49162014 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.3141 p.P1047 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 56 0 0 16 10 38.4615 USP4 0 genome.wustl.edu 37 3 49321951 49321951 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49321951 49321951 C A SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.2338 p.D780Y 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 187 0 0 80 54 40.2985 DAG1 0 genome.wustl.edu 37 3 49548223 49548223 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49548223 49548223 T G SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.256 p.L86V 1.000 superfamily_Cadherin-like,smart_Cadg pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 49 0 0 26 17 39.5349 BSN 0 genome.wustl.edu 37 3 49690676 49690676 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49690676 49690676 T G SNP BSN ENST00000296452 human ensembl 74_37 +1 known nonsense c.3687 p.Y1229* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 67 0 0 26 12 31.5789 BSN 0 genome.wustl.edu 37 3 49693126 49693126 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49693126 49693126 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.6137 p.R2046H 0.999 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 203 0 0 97 45 31.6901 AMIGO3 0 genome.wustl.edu 37 3 49755971 49755971 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49755971 49755971 C T SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.928 p.A310T 0.586 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 101 0 0 37 31 45.5882 TRAIP 0 genome.wustl.edu 37 3 49879261 49879261 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 49879261 49879261 C A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known missense c.615 p.K205N 1.000 superfamily_Prefoldin pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 52 0 0 39 16 29.0909 RBM6 0 genome.wustl.edu 37 3 50102503 50102503 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50102503 50102503 G A SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2626 p.D876N 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 236 0 0 151 64 29.7674 RBM6 0 genome.wustl.edu 37 3 50103758 50103758 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50103758 50103758 G T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2766 p.Q922H 0.928 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 95 0 0 52 22 29.7297 RBM5 0 genome.wustl.edu 37 3 50150695 50150695 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50150695 50150695 C A SNP RBM5 ENST00000474470 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RBM5 HGNC ENSG00000003756 11 0 0 6 3 33.3333 SLC38A3 0 genome.wustl.edu 37 3 50254684 50254684 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50254684 50254684 A G SNP SLC38A3 ENST00000414604 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC ENSG00000188338 44 0 0 18 3 14.2857 C3orf18 0 genome.wustl.edu 37 3 50597097 50597097 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50597097 50597097 G T SNP C3orf18 ENST00000357203 human ensembl 74_37 -1 known silent c.480 p.I160 1.000 NULL NULL - no_errors C3orf18 HGNC ENSG00000088543 12 0 0 5 4 44.4444 HEMK1 0 genome.wustl.edu 37 3 50608616 50608616 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50608616 50608616 C T SNP HEMK1 ENST00000232854 human ensembl 74_37 +1 known silent c.81 p.S27 0.861 NULL pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 102 0 0 36 25 40.9836 MAPKAPK3 0 genome.wustl.edu 37 3 50655008 50655008 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50655008 50655008 A C SNP MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known missense c.12 p.E4D 0.007 NULL 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 - no_errors MAPKAPK3 HGNC ENSG00000114738 72 0 0 32 17 34.6939 MAPKAPK3 0 genome.wustl.edu 37 3 50683628 50683628 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 50683628 50683628 G T SNP MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known missense c.762 p.M254I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 330 0 0 143 81 36.1607 DOCK3 0 genome.wustl.edu 37 3 51417640 51417640 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 51417640 51417640 T C SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known splice_site c.5583+2 e52+2 1.000 - - - no_errors DOCK3 HGNC ENSG00000088538 45 0 0 17 8 32 RBM15B 0 genome.wustl.edu 37 3 51430882 51430882 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 51430882 51430882 C T SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known silent c.2052 p.S684 0.959 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 128 0 0 55 32 36.7816 VPRBP 0 genome.wustl.edu 37 3 51497201 51497201 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 51497201 51497201 T G SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known missense c.304 p.N102H 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 38 0 0 20 11 35.4839 GRM2 0 genome.wustl.edu 37 3 51743099 51743099 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 51743099 51743099 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.100 p.L34 1.000 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 66 0 0 32 22 40.7407 GRM2 0 genome.wustl.edu 37 3 51743227 51743227 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 51743227 51743227 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.228 p.P76 0.226 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 251 0 0 104 70 40.2299 IQCF2 0 genome.wustl.edu 37 3 51897136 51897136 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 51897136 51897136 C T SNP IQCF2 ENST00000333127 human ensembl 74_37 +1 known missense c.245 p.S82L 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC ENSG00000184345 113 0 0 62 32 34.0426 RPL29 0 genome.wustl.edu 37 3 52027960 52027960 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52027960 52027960 T G SNP RPL29 ENST00000294189 human ensembl 74_37 -1 known silent c.285 p.R95 0.084 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 203 0 0 82 40 32.7869 DNAH1 0 genome.wustl.edu 37 3 52381902 52381902 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52381902 52381902 G T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.2018 p.S673I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 21 0 0 7 8 53.3333 EDEM1 0 genome.wustl.edu 37 3 5241340 5241340 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 5241340 5241340 G A SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.646 p.D216N 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 61 0 0 16 16 50 DNAH1 0 genome.wustl.edu 37 3 52423500 52423500 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52423500 52423500 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.9519 p.Y3173 0.017 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 22 0 0 9 8 47.0588 DNAH1 0 genome.wustl.edu 37 3 52433758 52433758 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52433758 52433758 T G SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.12639 p.F4213L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 180 0 0 79 56 41.4815 BAP1 0 genome.wustl.edu 37 3 52441282 52441282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52441282 52441282 C T SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known missense c.488 p.R163Q 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 105 0 0 48 25 34.2466 SEMA3G 0 genome.wustl.edu 37 3 52475391 52475391 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52475391 52475391 C A SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known missense c.702 p.E234D 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 95 0 0 41 26 38.806 NISCH 0 genome.wustl.edu 37 3 52505858 52505858 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52505858 52505858 C A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.438 p.V146 0.995 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 94 0 0 36 20 35.7143 STAB1 0 genome.wustl.edu 37 3 52543302 52543302 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52543302 52543302 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.2312 p.S771L 0.364 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 70 0 0 35 10 22.2222 NT5DC2 0 genome.wustl.edu 37 3 52558592 52558592 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52558592 52558592 T C SNP NT5DC2 ENST00000422318 human ensembl 74_37 -1 known missense c.1568 p.Y523C 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 143 0 0 57 28 32.9412 ITIH1 0 genome.wustl.edu 37 3 52824806 52824806 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52824806 52824806 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.2363 p.S788F 0.990 pfam_ITI_HC_C,superfamily_PsdUridine_synth_cat_dom pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 262 0 0 100 60 37.5 ITIH3 0 genome.wustl.edu 37 3 52831835 52831835 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52831835 52831835 C T SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known silent c.552 p.I184 0.002 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 19 0 0 9 4 30.7692 ITIH3 0 genome.wustl.edu 37 3 52836763 52836763 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52836763 52836763 C T SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known silent c.1650 p.F550 0.982 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 97 0 0 30 21 41.1765 ITIH4 0 genome.wustl.edu 37 3 52860836 52860836 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52860836 52860836 G A SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.490 p.R164W 0.156 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 90 0 0 39 25 39.0625 SFMBT1 0 genome.wustl.edu 37 3 52941623 52941623 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 52941623 52941623 T C SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.2033 p.K678R 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 90 0 0 53 30 36.1446 PRKCD 0 genome.wustl.edu 37 3 53212512 53212512 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 53212512 53212512 A C SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.74 p.Q25P 0.998 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 88 0 0 36 15 29.4118 CACNA1D 0 genome.wustl.edu 37 3 53752369 53752369 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 53752369 53752369 A C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.1432 p.N478H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 131 0 0 63 25 28.4091 CACNA1D 0 genome.wustl.edu 37 3 53845206 53845206 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 53845206 53845206 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6319 p.E2107K 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 143 0 0 66 26 28.2609 ACTR8 0 genome.wustl.edu 37 3 53914039 53914039 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 53914039 53914039 A C SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known missense c.221 p.V74G 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 196 0 0 129 60 31.746 CACNA2D3 0 genome.wustl.edu 37 3 54157603 54157603 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 54157603 54157603 T C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.186 p.G62 0.982 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 171 0 0 56 39 41.0526 LRTM1 0 genome.wustl.edu 37 3 54952817 54952817 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 54952817 54952817 G A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.707 p.A236V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 45 0 0 32 15 31.9149 CACNA2D3 0 genome.wustl.edu 37 3 55018657 55018657 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 55018657 55018657 A G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2579 p.D860G 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 8 0 0 1 2 66.6667 ERC2 0 genome.wustl.edu 37 3 56114904 56114904 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 56114904 56114904 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1582 p.R528C 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 55 0 0 22 15 40.5405 FAM208A 0 genome.wustl.edu 37 3 56657215 56657215 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 56657215 56657215 C T SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known silent c.4680 p.G1560 0.991 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 112 0 0 85 22 20.5607 FAM208A 0 genome.wustl.edu 37 3 56661678 56661678 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 56661678 56661678 T G SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.3779 p.E1260A 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 95 0 0 58 25 30.1205 FAM208A 0 genome.wustl.edu 37 3 56674012 56674012 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 56674012 56674012 A G SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known splice_site c.2764+2 e16+2 1.000 - - - no_errors FAM208A HGNC ENSG00000163946 25 0 0 17 12 41.3793 ARHGEF3 0 genome.wustl.edu 37 3 56763357 56763357 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 56763357 56763357 G A SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known missense c.1618 p.R540C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 155 0 0 65 37 36.2745 HESX1 0 genome.wustl.edu 37 3 57232259 57232259 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 57232259 57232259 G A SNP HESX1 ENST00000295934 human ensembl 74_37 -1 known missense c.524 p.A175V 0.939 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 46 0 0 40 15 27.2727 APPL1 0 genome.wustl.edu 37 3 57269638 57269638 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 57269638 57269638 T G SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.99 p.I33M 1.000 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 154 0 0 82 47 36.4341 APPL1 0 genome.wustl.edu 37 3 57283540 57283540 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 57283540 57283540 G A SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.1016 p.R339Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 125 0 0 74 38 33.9286 DENND6A 0 genome.wustl.edu 37 3 57616162 57616162 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 57616162 57616162 C T SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known missense c.1606 p.A536T 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 53 0 0 27 15 35.7143 DENND6A 0 genome.wustl.edu 37 3 57649398 57649398 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 57649398 57649398 G A SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known nonsense c.478 p.R160* 1.000 pfam_Afi1_N,pfam_ABL9/DENND6_dom pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 86 0 0 68 27 28.4211 DENND6A 0 genome.wustl.edu 37 3 57651870 57651870 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 57651870 57651870 C A SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known missense c.412 p.D138Y 1.000 pfam_Afi1_N,pfam_ABL9/DENND6_dom pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 91 0 0 105 30 22.2222 FLNB 0 genome.wustl.edu 37 3 58131773 58131773 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 58131773 58131773 G T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known nonsense c.5551 p.E1851* 1.000 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 106 0 0 40 22 35.4839 FLNB 0 genome.wustl.edu 37 3 58134405 58134405 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 58134405 58134405 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.5917 p.E1973K 0.998 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 94 0 0 50 23 31.5068 FLNB 0 genome.wustl.edu 37 3 58135711 58135711 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 58135711 58135711 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.6226 p.A2076T 1.000 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 269 0 0 129 72 35.8209 RPP14 0 genome.wustl.edu 37 3 58296086 58296086 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 58296086 58296086 A C SNP RPP14 ENST00000295959 human ensembl 74_37 +1 known missense c.30 p.R10S 0.891 NULL pfam_RNase_P/MRP_subunit - no_errors RPP14 HGNC ENSG00000163684 103 0 0 66 33 33.3333 PDHB 0 genome.wustl.edu 37 3 58417336 58417336 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 58417336 58417336 G A SNP PDHB ENST00000302746 human ensembl 74_37 -1 known missense c.287 p.A96V 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 133 0 0 89 45 33.5821 C3orf67 0 genome.wustl.edu 37 3 58870367 58870367 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 58870367 58870367 T C SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.244 p.T82A 0.878 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 171 0 0 100 56 35.8974 PTPRG 0 genome.wustl.edu 37 3 62118333 62118333 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 62118333 62118333 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.673 p.V225I 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 208 1 0.478469 143 45 23.9362 CADPS 0 genome.wustl.edu 37 3 62522188 62522188 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 62522188 62522188 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.2035 p.A679T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 156 0 0 116 55 32.1637 CADPS 0 genome.wustl.edu 37 3 62636621 62636621 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 62636621 62636621 C A SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1104 p.Q368H 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 175 0 0 86 41 32.2835 PRICKLE2 0 genome.wustl.edu 37 3 64085446 64085446 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 64085446 64085446 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.1816 p.R606C 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 246 0 0 117 40 25.4777 ADAMTS9 0 genome.wustl.edu 37 3 64608121 64608121 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 64608121 64608121 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.2531 p.R844H 1.000 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 103 0 0 66 20 23.2558 ADAMTS9 0 genome.wustl.edu 37 3 64617528 64617528 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 64617528 64617528 G T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.2249 p.S750Y 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 96 0 0 69 34 33.0097 MAGI1 0 genome.wustl.edu 37 3 65344740 65344740 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 65344740 65344740 G A SNP MAGI1 ENST00000330909 human ensembl 74_37 -1 known missense c.3806 p.T1269M 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 316 1 0.315457 213 81 27.551 SLC25A26 0 genome.wustl.edu 37 3 66293694 66293694 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 66293694 66293694 G T SNP SLC25A26 ENST00000354883 human ensembl 74_37 +1 known missense c.258 p.L86F 0.990 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 149 0 0 79 55 41.0448 LRIG1 0 genome.wustl.edu 37 3 66448589 66448589 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 66448589 66448589 C T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.1251 p.A417 0.135 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 132 0 0 63 38 37.6238 SUCLG2 0 genome.wustl.edu 37 3 67559310 67559310 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 67559310 67559310 C T SNP SUCLG2 ENST00000307227 human ensembl 74_37 -1 known silent c.678 p.T226 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 51 0 0 46 12 20.6897 GRM7 0 genome.wustl.edu 37 3 6903450 6903450 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 6903450 6903450 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.375 p.A125 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 96 0 0 21 29 58 LMOD3 0 genome.wustl.edu 37 3 69168243 69168243 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 69168243 69168243 C A SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known missense c.1263 p.E421D 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 103 0 0 61 20 24.6914 LMOD3 0 genome.wustl.edu 37 3 69168701 69168701 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 69168701 69168701 C A SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known nonsense c.805 p.E269* 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 199 0 0 121 68 35.9788 SHQ1 0 genome.wustl.edu 37 3 72881596 72881596 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 72881596 72881596 C A SNP SHQ1 ENST00000325599 human ensembl 74_37 -1 known missense c.523 p.D175Y 1.000 NULL pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors SHQ1 HGNC ENSG00000144736 103 0 0 84 34 28.8136 CNTN3 0 genome.wustl.edu 37 3 74411169 74411169 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 74411169 74411169 C A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1236 p.K412N 0.935 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 79 0 0 59 21 26.25 GRM7 0 genome.wustl.edu 37 3 7721736 7721736 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 7721736 7721736 C A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.2452 p.L818I 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 63 0 0 29 17 36.9565 ROBO2 0 genome.wustl.edu 37 3 77526693 77526693 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 77526693 77526693 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known nonsense c.517 p.R173* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 114 0 0 79 29 26.8519 ROBO2 0 genome.wustl.edu 37 3 77684173 77684173 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 77684173 77684173 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known nonsense c.3913 p.R1305* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 66 0 0 48 25 34.2466 ROBO1 0 genome.wustl.edu 37 3 78649283 78649283 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 78649283 78649283 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.4921 p.D1641Y 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 40 0 0 19 17 47.2222 GBE1 0 genome.wustl.edu 37 3 81698040 81698040 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 81698040 81698040 T C SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.658 p.T220A 1.000 superfamily_Glycoside_hydrolase_SF pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 21 0 0 9 4 30.7692 EPHA3 0 genome.wustl.edu 37 3 89259419 89259419 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 89259419 89259419 C T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.563 p.A188V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 212 1 0.469484 117 61 34.2697 RAD18 0 genome.wustl.edu 37 3 8983301 8983301 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 8983301 8983301 C A SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known nonsense c.454 p.E152* 0.990 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 142 0 0 80 41 33.8843 RAD18 0 genome.wustl.edu 37 3 8990233 8990233 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 8990233 8990233 T G SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known missense c.155 p.K52T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 120 0 0 86 49 36.2963 STX19 0 genome.wustl.edu 37 3 93734063 93734063 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 93734063 93734063 G T SNP STX19 ENST00000315099 human ensembl 74_37 -1 known silent c.51 p.L17 0.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 93 0 0 69 34 33.0097 DHFRL1 0 genome.wustl.edu 37 3 93780181 93780181 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 93780181 93780181 A G SNP DHFRL1 ENST00000314636 human ensembl 74_37 -1 known missense c.175 p.F59L 1.000 pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC ENSG00000178700 269 0 0 134 56 29.4737 SETD5 0 genome.wustl.edu 37 3 9482139 9482139 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 9482139 9482139 G T SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known splice_site c.568-1 e6-1 1.000 - - - no_errors SETD5 HGNC ENSG00000168137 30 0 0 18 11 37.931 EPHA6 0 genome.wustl.edu 37 3 96706417 96706417 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 96706417 96706417 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.694 p.I232L 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 248 0 0 133 76 36.3636 EPHA6 0 genome.wustl.edu 37 3 97467501 97467501 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 97467501 97467501 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.3349 p.R1117C 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 35 0 0 24 11 31.4286 CRYBG3 0 genome.wustl.edu 37 3 97598582 97598582 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 97598582 97598582 G T SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.1034 p.R345I 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 41 0 0 28 15 34.8837 CPNE9 0 genome.wustl.edu 37 3 9760228 9760228 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 9760228 9760228 C T SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.1183 p.R395C 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 154 0 0 74 41 35.6522 OR5H15 0 genome.wustl.edu 37 3 97888229 97888229 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 97888229 97888229 A C SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.686 p.K229T 0.119 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 72 0 0 47 25 34.7222 ENSG00000251088 0 genome.wustl.edu 37 3 98030742 98030742 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 98030742 98030742 A G SNP ENSG00000251088 ENST00000508616 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-325B23.2 Clone_based_vega_gene ENSG00000251088 100 0 0 66 36 35.2941 OR5K2 0 genome.wustl.edu 37 3 98217437 98217437 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 98217437 98217437 C A SNP OR5K2 ENST00000427338 human ensembl 74_37 +1 known missense c.913 p.L305M 0.169 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K2 HGNC ENSG00000231861 28 0 0 21 15 41.6667 GPR15 0 genome.wustl.edu 37 3 98251081 98251081 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 98251081 98251081 C T SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known silent c.204 p.I68 0.951 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 108 0 0 46 28 37.8378 GPR15 0 genome.wustl.edu 37 3 98251082 98251082 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 98251082 98251082 G A SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.205 p.D69N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 104 1 0.952381 46 27 36.9863 TADA3 0 genome.wustl.edu 37 3 9831496 9831496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 9831496 9831496 C T SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.359 p.R120Q 0.998 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 206 0 0 89 37 29.3651 ST3GAL6 0 genome.wustl.edu 37 3 98487301 98487301 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 98487301 98487301 T C SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.17 p.V6A 0.991 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 166 0 0 84 59 41.2587 DCBLD2 0 genome.wustl.edu 37 3 98536721 98536721 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 98536721 98536721 T C SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known silent c.1104 p.G368 0.988 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 51 0 0 23 14 37.8378 CIDEC 0 genome.wustl.edu 37 3 9911628 9911628 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 9911628 9911628 A C SNP CIDEC ENST00000336832 human ensembl 74_37 -1 known silent c.492 p.T164 0.060 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEC HGNC ENSG00000187288 134 0 0 68 34 33.3333 IL17RE 0 genome.wustl.edu 37 3 9950918 9950918 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 9950918 9950918 G A SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known silent c.852 p.E284 0.998 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 39 0 0 24 13 35.1351 FILIP1L 0 genome.wustl.edu 37 3 99568649 99568649 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 99568649 99568649 T G SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.1871 p.K624T 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 147 0 0 88 63 41.7219 IL17RC 0 genome.wustl.edu 37 3 9959714 9959714 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 9959714 9959714 G A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.448 p.D150N 0.073 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 37 0 0 12 10 45.4545 FILIP1L 0 genome.wustl.edu 37 3 99648715 99648715 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 99648715 99648715 C A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.411 p.E137D 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 100 0 0 83 7 7.77778 CMSS1 0 genome.wustl.edu 37 3 99890693 99890693 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 3 99890693 99890693 G A SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.529 p.A177T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 70 0 0 32 25 43.8596 PCNAP1 0 genome.wustl.edu 37 4 100082205 100082205 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 100082205 100082205 T C SNP PCNAP1 ENST00000595299 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors PCNAP1 HGNC ENSG00000249065 13 0 0 6 5 45.4545 ADH6 0 genome.wustl.edu 37 4 100126121 100126121 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 100126121 100126121 T G SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known missense c.1064 p.K355T 0.372 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 97 0 0 61 21 25.6098 ADH6 0 genome.wustl.edu 37 4 100131414 100131414 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 100131414 100131414 A C SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known missense c.392 p.F131C 0.990 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 88 0 0 50 18 26.4706 ADH1A 0 genome.wustl.edu 37 4 100201343 100201343 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 100201343 100201343 G A SNP ADH1A ENST00000209668 human ensembl 74_37 -1 known silent c.922 p.L308 0.866 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 322 0 0 190 93 32.8622 MTTP 0 genome.wustl.edu 37 4 100521856 100521856 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 100521856 100521856 C A SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1202 p.S401Y 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 96 0 0 58 24 29.2683 LAMTOR3 0 genome.wustl.edu 37 4 100803066 100803066 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 100803066 100803066 A C SNP LAMTOR3 ENST00000515100 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LAMTOR3 HGNC ENSG00000109270 15 0 0 13 6 31.5789 EMCN 0 genome.wustl.edu 37 4 101342465 101342465 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 101342465 101342465 T A SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.638 p.Y213F 1.000 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 109 0 0 60 34 36.1702 UBE2D3 0 genome.wustl.edu 37 4 103747704 103747704 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 103747704 103747704 T C SNP UBE2D3 ENST00000513098 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2D3 HGNC ENSG00000109332 175 0 0 96 58 37.6623 SLC9B2 0 genome.wustl.edu 37 4 103966064 103966064 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 103966064 103966064 A C SNP SLC9B2 ENST00000362026 human ensembl 74_37 -1 known missense c.979 p.F327V 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 165 0 0 138 46 25 BDH2 0 genome.wustl.edu 37 4 104003289 104003289 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 104003289 104003289 G A SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known silent c.633 p.F211 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 67 0 0 45 17 27.4194 CENPE 0 genome.wustl.edu 37 4 104080192 104080192 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 104080192 104080192 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.2576 p.S859L 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 79 0 0 55 21 27.6316 CENPE 0 genome.wustl.edu 37 4 104081903 104081903 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 104081903 104081903 A C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.2165 p.I722S 0.153 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 69 0 0 81 40 33.0579 CENPE 0 genome.wustl.edu 37 4 104098057 104098057 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 104098057 104098057 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.1389 p.E463 0.996 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 26 0 0 13 14 51.8519 CENPE 0 genome.wustl.edu 37 4 104116366 104116366 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 104116366 104116366 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.382 p.R128C 0.516 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 63 0 0 48 19 28.3582 CENPE 0 genome.wustl.edu 37 4 104117407 104117407 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 104117407 104117407 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.151 p.R51C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 38 0 0 35 15 30 TET2 0 genome.wustl.edu 37 4 106156276 106156276 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 106156276 106156276 T G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1177 p.S393A 0.343 NULL NULL - no_errors TET2 HGNC ENSG00000168769 194 0 0 102 41 28.6713 TET2 0 genome.wustl.edu 37 4 106156313 106156313 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 106156313 106156313 T G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1214 p.L405R 0.055 NULL NULL - no_errors TET2 HGNC ENSG00000168769 180 0 0 109 41 27.3333 TET2 0 genome.wustl.edu 37 4 106156805 106156805 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 106156805 106156805 C T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1706 p.A569V 0.444 NULL NULL - no_errors TET2 HGNC ENSG00000168769 150 1 0.662252 89 22 19.8198 PPA2 0 genome.wustl.edu 37 4 106377901 106377901 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 106377901 106377901 C A SNP PPA2 ENST00000357415 human ensembl 74_37 -1 known missense c.159 p.K53N 0.996 superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA2 HGNC ENSG00000138777 101 0 0 78 27 25.7143 SGMS2 0 genome.wustl.edu 37 4 108824539 108824539 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 108824539 108824539 G T SNP SGMS2 ENST00000359079 human ensembl 74_37 +1 known nonsense c.724 p.E242* 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase - no_errors SGMS2 HGNC ENSG00000164023 89 0 0 49 27 35.5263 CYP2U1 0 genome.wustl.edu 37 4 108866502 108866502 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 108866502 108866502 A C SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.867 p.Q289H 0.467 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 106 0 0 52 39 42.8571 CYP2U1 0 genome.wustl.edu 37 4 108866523 108866523 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 108866523 108866523 T C SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known silent c.888 p.S296 0.180 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 107 0 0 41 31 43.0556 CYP2U1 0 genome.wustl.edu 37 4 108870649 108870649 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 108870649 108870649 G T SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known nonsense c.1432 p.E478* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 65 0 0 33 13 28.2609 LEF1-AS1 0 genome.wustl.edu 37 4 109088941 109088941 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 109088941 109088941 C A SNP LEF1-AS1 ENST00000436413 human ensembl 74_37 +1 known rna NULL NULL 0.159 - - - no_errors LEF1-AS1 HGNC ENSG00000232021 143 0 0 60 28 31.8182 ETNPPL 0 genome.wustl.edu 37 4 109663646 109663646 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 109663646 109663646 C A SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.1494 p.K498N 1.000 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 170 0 0 96 41 29.927 COL25A1 0 genome.wustl.edu 37 4 109745296 109745296 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 109745296 109745296 T C SNP COL25A1 ENST00000399126 human ensembl 74_37 -1 known missense c.1879 p.I627V 0.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 88 0 0 47 39 45.3488 COL25A1 0 genome.wustl.edu 37 4 109895713 109895713 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 109895713 109895713 G A SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known silent c.441 p.G147 0.998 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 116 0 0 70 29 29.2929 SEC24B 0 genome.wustl.edu 37 4 110434991 110434991 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 110434991 110434991 C A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.1992 p.F664L 1.000 superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 141 0 0 85 56 39.7163 SEC24B 0 genome.wustl.edu 37 4 110446055 110446055 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 110446055 110446055 T G SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.2590 p.L864V 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 88 0 0 52 22 29.7297 CCDC109B 0 genome.wustl.edu 37 4 110605624 110605624 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 110605624 110605624 C T SNP CCDC109B ENST00000394650 human ensembl 74_37 +1 known missense c.638 p.S213L 0.030 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 83 0 0 45 23 33.8235 CFI 0 genome.wustl.edu 37 4 110687839 110687839 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 110687839 110687839 A G SNP CFI ENST00000394634 human ensembl 74_37 -1 known missense c.199 p.C67R 1.000 smart_FacI_MAC pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 90 0 0 49 21 30 EGF 0 genome.wustl.edu 37 4 110862234 110862234 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 110862234 110862234 G T SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.260 p.R87I 0.669 pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 91 0 0 68 27 28.4211 EGF 0 genome.wustl.edu 37 4 110901199 110901199 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 110901199 110901199 A C SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2125 p.R709 1.000 pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 127 0 0 67 30 30.9278 PITX2 0 genome.wustl.edu 37 4 111542364 111542364 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 111542364 111542364 C T SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known missense c.367 p.E123K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 56 0 0 28 24 46.1538 C4orf21 0 genome.wustl.edu 37 4 113508552 113508552 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 113508552 113508552 A G SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.3661 p.S1221P 0.012 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 266 0 0 172 80 31.746 C4orf21 0 genome.wustl.edu 37 4 113508887 113508887 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 113508887 113508887 A C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.3326 p.L1109R 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 17 0 0 8 3 27.2727 C4orf21 0 genome.wustl.edu 37 4 113545027 113545027 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 113545027 113545027 A C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.108 p.I36M 1.000 pfam_DUF2439 pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 29 0 0 24 7 22.5806 LARP7 0 genome.wustl.edu 37 4 113578496 113578496 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 113578496 113578496 T G SNP LARP7 ENST00000503898 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors LARP7 HGNC ENSG00000174720 14 0 0 12 5 29.4118 HS3ST1 0 genome.wustl.edu 37 4 11400898 11400898 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 11400898 11400898 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.732 p.S244 0.156 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 82 0 0 41 23 35.9375 ANK2 0 genome.wustl.edu 37 4 114276905 114276905 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 114276905 114276905 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.7131 p.D2377 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 85 0 0 47 21 30.8824 ANK2 0 genome.wustl.edu 37 4 114278303 114278303 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 114278303 114278303 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.8529 p.S2843 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 195 0 0 120 61 33.7017 ANK2 0 genome.wustl.edu 37 4 114284541 114284541 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 114284541 114284541 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known nonsense c.10804 p.R3602* 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 63 0 0 40 18 31.0345 NDST4 0 genome.wustl.edu 37 4 115898385 115898385 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 115898385 115898385 A C SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.1024 p.F342V 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 115 0 0 49 35 41.6667 NDST4 0 genome.wustl.edu 37 4 115998158 115998158 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 115998158 115998158 C T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.35 p.R12Q 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 25 0 0 26 3 10.3448 SPON2 0 genome.wustl.edu 37 4 1164274 1164274 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 1164274 1164274 G A SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known missense c.727 p.R243W 0.932 NULL pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 164 0 0 76 42 35.5932 NDST3 0 genome.wustl.edu 37 4 118975799 118975799 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 118975799 118975799 C A SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.734 p.S245Y 0.916 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 158 0 0 86 66 43.4211 NDST3 0 genome.wustl.edu 37 4 118975970 118975970 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 118975970 118975970 A G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.905 p.D302G 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 228 0 0 128 80 38.4615 PRSS12 0 genome.wustl.edu 37 4 119229642 119229642 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 119229642 119229642 T C SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.1580 p.D527G 0.987 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 193 0 0 105 54 33.9623 SYNPO2 0 genome.wustl.edu 37 4 119952619 119952619 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 119952619 119952619 G A SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.2689 p.A897T 0.977 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 148 0 0 71 43 37.7193 SYNPO2 0 genome.wustl.edu 37 4 119952769 119952769 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 119952769 119952769 C T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.2839 p.P947S 0.212 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 113 0 0 53 38 41.7582 SYNPO2 0 genome.wustl.edu 37 4 119953078 119953078 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 119953078 119953078 C T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.3148 p.P1050S 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 90 0 0 47 25 34.7222 USP53 0 genome.wustl.edu 37 4 120192574 120192574 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 120192574 120192574 G A SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.1559 p.R520Q 0.078 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 100 0 0 81 41 33.6066 USP53 0 genome.wustl.edu 37 4 120213820 120213820 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 120213820 120213820 G A SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.2676 p.E892 0.087 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 91 0 0 50 28 35.8974 PDE5A 0 genome.wustl.edu 37 4 120419777 120419777 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 120419777 120419777 G A SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known silent c.2607 p.S869 0.922 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 136 0 0 55 33 37.5 NDNF 0 genome.wustl.edu 37 4 121957679 121957679 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 121957679 121957679 T G SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.1447 p.K483Q 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 135 0 0 85 46 35.1145 NDNF 0 genome.wustl.edu 37 4 121958329 121958329 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 121958329 121958329 C T SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.797 p.R266H 0.971 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 99 0 0 51 31 37.8049 QRFPR 0 genome.wustl.edu 37 4 122250697 122250697 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 122250697 122250697 G A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known silent c.1068 p.F356 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 135 0 0 96 45 31.9149 EXOSC9 0 genome.wustl.edu 37 4 122732818 122732818 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 122732818 122732818 A C SNP EXOSC9 ENST00000379663 human ensembl 74_37 +1 known missense c.819 p.Q273H 1.000 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 34 0 0 24 21 46.6667 KIAA1109 0 genome.wustl.edu 37 4 123179988 123179988 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123179988 123179988 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.6752 p.L2251S 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 60 0 0 39 13 25 KIAA1109 0 genome.wustl.edu 37 4 123265632 123265632 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123265632 123265632 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.12649 p.R4217C 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 156 0 0 91 31 25.4098 KIAA1109 0 genome.wustl.edu 37 4 123274229 123274229 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123274229 123274229 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.14020 p.R4674C 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 99 0 0 60 28 31.8182 ADAD1 0 genome.wustl.edu 37 4 123336586 123336586 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123336586 123336586 T C SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known silent c.1302 p.R434 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 157 0 0 99 42 29.7872 BBS12 0 genome.wustl.edu 37 4 123663068 123663068 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123663068 123663068 C T SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known silent c.21 p.V7 0.001 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 90 0 0 41 24 36.9231 NUDT6 0 genome.wustl.edu 37 4 123818804 123818804 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123818804 123818804 G A SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known silent c.528 p.G176 0.280 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 61 0 0 45 27 37.5 NUDT6 0 genome.wustl.edu 37 4 123838690 123838690 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 123838690 123838690 T G SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known missense c.408 p.L136F 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 157 0 0 93 31 25 FAT4 0 genome.wustl.edu 37 4 126239987 126239987 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126239987 126239987 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.2421 p.A807 0.174 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 200 0 0 97 59 37.8205 FAT4 0 genome.wustl.edu 37 4 126328095 126328095 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126328095 126328095 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5368 p.D1790N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 146 0 0 95 38 28.5714 FAT4 0 genome.wustl.edu 37 4 126328144 126328144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126328144 126328144 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5417 p.R1806H 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 189 0 0 126 57 31.1475 FAT4 0 genome.wustl.edu 37 4 126371220 126371220 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126371220 126371220 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9049 p.S3017P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 91 0 0 58 36 38.2979 FAT4 0 genome.wustl.edu 37 4 126372053 126372053 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126372053 126372053 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.9882 p.Y3294 0.993 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 118 0 0 56 22 28.2051 FAT4 0 genome.wustl.edu 37 4 126372616 126372616 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126372616 126372616 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10445 p.A3482D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 212 0 0 115 47 29.0123 FAT4 0 genome.wustl.edu 37 4 126400929 126400929 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126400929 126400929 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.12507 p.S4169 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 46 0 0 34 11 24.4444 FAT4 0 genome.wustl.edu 37 4 126412663 126412663 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 126412663 126412663 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14686 p.R4896C 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 92 0 0 52 25 32.4675 HSPA4L 0 genome.wustl.edu 37 4 128739553 128739553 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 128739553 128739553 A G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1745 p.D582G 0.992 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 81 0 0 56 29 34.1176 PLK4 0 genome.wustl.edu 37 4 128804620 128804620 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 128804620 128804620 T G SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known missense c.249 p.N83K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 77 0 0 46 16 25.8065 C4orf29 0 genome.wustl.edu 37 4 128941239 128941239 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 128941239 128941239 C T SNP C4orf29 ENST00000398965 human ensembl 74_37 +1 known missense c.614 p.A205V 1.000 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC ENSG00000164074 36 0 0 24 7 22.5806 MAEA 0 genome.wustl.edu 37 4 1333066 1333066 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 1333066 1333066 G A SNP MAEA ENST00000512289 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MAEA HGNC ENSG00000090316 20 0 0 8 6 42.8571 HSP90AB2P 0 genome.wustl.edu 37 4 13339641 13339641 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 13339641 13339641 C T SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 0.926 - - - no_errors HSP90AB2P HGNC ENSG00000205940 22 0 0 15 9 37.5 RAB28 0 genome.wustl.edu 37 4 13383192 13383192 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 13383192 13383192 T G SNP RAB28 ENST00000330852 human ensembl 74_37 -1 known missense c.418 p.K140Q 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB28 HGNC ENSG00000157869 58 0 0 36 13 26.5306 PCDH10 0 genome.wustl.edu 37 4 134071595 134071595 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 134071595 134071595 G T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.300 p.E100D 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 159 0 0 79 33 29.4643 PCDH10 0 genome.wustl.edu 37 4 134072121 134072121 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 134072121 134072121 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.826 p.D276N 0.998 pfam_Cadherin,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 PCDH10 HGNC ENSG00000138650 153 1 0.649351 76 39 33.913 PCDH10 0 genome.wustl.edu 37 4 134075511 134075511 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 134075511 134075511 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2681 p.R894Q 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 37 0 0 18 13 41.9355 BOD1L1 0 genome.wustl.edu 37 4 13579056 13579056 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 13579056 13579056 T G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.8855 p.K2952T 0.999 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 32 0 0 20 10 33.3333 BOD1L1 0 genome.wustl.edu 37 4 13603585 13603585 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 13603585 13603585 T C SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.4939 p.T1647A 0.004 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 331 0 0 169 86 33.7255 BOD1L1 0 genome.wustl.edu 37 4 13603599 13603599 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 13603599 13603599 A G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.4925 p.V1642A 0.001 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 300 0 0 151 76 33.4802 PCDH18 0 genome.wustl.edu 37 4 138450792 138450792 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 138450792 138450792 G T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2451 p.F817L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 65 0 0 32 17 34.6939 PCDH18 0 genome.wustl.edu 37 4 138451451 138451451 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 138451451 138451451 A C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1792 p.F598V 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 401 0 0 187 115 38.0795 PCDH18 0 genome.wustl.edu 37 4 138451957 138451957 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 138451957 138451957 G T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1286 p.S429Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 161 0 0 103 41 28.4722 PCDH18 0 genome.wustl.edu 37 4 138452515 138452515 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 138452515 138452515 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.728 p.S243N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 129 1 0.769231 75 39 34.2105 CRIPAK 0 genome.wustl.edu 37 4 1389618 1389618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 1389618 1389618 C A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.1319 p.S440Y 0.345 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 110 0 0 56 29 34.1176 NAA15 0 genome.wustl.edu 37 4 140306065 140306065 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 140306065 140306065 G A SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known silent c.2235 p.T745 0.076 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 46 0 0 36 18 33.3333 NAA15 0 genome.wustl.edu 37 4 140306076 140306076 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 140306076 140306076 A C SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known missense c.2246 p.N749T 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 49 0 0 48 4 7.69231 CLGN 0 genome.wustl.edu 37 4 141315154 141315154 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 141315154 141315154 G A SNP CLGN ENST00000325617 human ensembl 74_37 -1 known silent c.1191 p.F397 1.000 pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 47 0 0 41 16 28.0702 UCP1 0 genome.wustl.edu 37 4 141489041 141489041 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 141489041 141489041 T G SNP UCP1 ENST00000262999 human ensembl 74_37 -1 known missense c.217 p.K73Q 0.185 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC ENSG00000109424 162 0 0 81 34 29.5652 RNF150 0 genome.wustl.edu 37 4 142053630 142053630 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 142053630 142053630 C T SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.333 p.P111 0.892 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 16 0 0 7 5 41.6667 GAB1 0 genome.wustl.edu 37 4 144390300 144390300 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 144390300 144390300 A G SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known silent c.2133 p.R711 0.919 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 77 0 0 46 14 23.3333 SMARCA5 0 genome.wustl.edu 37 4 144471198 144471198 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 144471198 144471198 A C SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.3034 p.N1012H 1.000 pfam_SLIDE,superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 16 0 0 23 9 28.125 HHIP 0 genome.wustl.edu 37 4 145573877 145573877 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 145573877 145573877 G T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.400 p.D134Y 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 158 0 0 113 63 35.7955 HHIP 0 genome.wustl.edu 37 4 145581007 145581007 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 145581007 145581007 T G SNP HHIP ENST00000434550 human ensembl 74_37 +1 known missense c.848 p.F283C 0.863 NULL pfam_Folate_rcpt-like - no_errors HHIP HGNC ENSG00000164161 71 0 0 37 22 37.2881 HHIP 0 genome.wustl.edu 37 4 145629371 145629371 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 145629371 145629371 C T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known silent c.1209 p.N403 0.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 104 0 0 55 22 28.5714 OTUD4 0 genome.wustl.edu 37 4 146059262 146059262 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 146059262 146059262 C T SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2665 p.E889K 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 65 0 0 40 16 28.5714 OTUD4 0 genome.wustl.edu 37 4 146071967 146071967 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 146071967 146071967 T G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.1059 p.Q353H 0.910 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 50 0 0 27 21 43.75 OTUD4 0 genome.wustl.edu 37 4 146071986 146071986 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 146071986 146071986 T G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.1040 p.K347T 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 60 0 0 28 19 40.4255 ZNF827 0 genome.wustl.edu 37 4 146807209 146807209 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 146807209 146807209 C T SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known silent c.1368 p.Q456 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 72 0 0 36 14 28 ZNF827 0 genome.wustl.edu 37 4 146859541 146859541 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 146859541 146859541 C T SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.19 p.E7K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 181 0 0 85 49 36.5672 TMEM184C 0 genome.wustl.edu 37 4 148539147 148539147 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 148539147 148539147 A G SNP TMEM184C ENST00000296582 human ensembl 74_37 +1 known missense c.40 p.I14V 1.000 NULL pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 254 0 0 119 59 33.1461 TMEM184C 0 genome.wustl.edu 37 4 148554919 148554919 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 148554919 148554919 T G SNP TMEM184C ENST00000296582 human ensembl 74_37 +1 known missense c.883 p.F295V 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 101 0 0 85 39 31.4516 PRMT10 0 genome.wustl.edu 37 4 148582140 148582140 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 148582140 148582140 A G SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.1003 p.F335L 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 104 0 0 62 41 39.8058 NR3C2 0 genome.wustl.edu 37 4 149041348 149041348 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 149041348 149041348 C T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.2614 p.E872K 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 122 0 0 54 28 34.1463 LRBA 0 genome.wustl.edu 37 4 151356761 151356761 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 151356761 151356761 G A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.7054 p.R2352C 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 115 0 0 91 36 28.3465 LRBA 0 genome.wustl.edu 37 4 151773634 151773634 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 151773634 151773634 A G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known silent c.3228 p.S1076 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 103 0 0 57 22 27.8481 LRBA 0 genome.wustl.edu 37 4 151827471 151827471 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 151827471 151827471 A G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.1580 p.V527A 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 129 0 0 127 37 22.561 LRBA 0 genome.wustl.edu 37 4 151849672 151849672 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 151849672 151849672 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.545 p.R182Q 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 41 0 0 26 9 25.7143 SH3D19 0 genome.wustl.edu 37 4 152086764 152086764 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 152086764 152086764 C T SNP SH3D19 ENST00000304527 human ensembl 74_37 -1 known missense c.779 p.R260Q 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 97 0 0 61 34 35.7895 PET112 0 genome.wustl.edu 37 4 152679967 152679967 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 152679967 152679967 G T SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.284 p.S95Y 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 151 0 0 113 43 27.5641 FBXW7 0 genome.wustl.edu 37 4 153332915 153332915 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 153332915 153332915 C T SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.41 p.R14Q 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 60 0 0 38 15 28.3019 TIGD4 0 genome.wustl.edu 37 4 153690733 153690733 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 153690733 153690733 G A SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.1424 p.A475V 0.989 pfam_Centromere_CenpB_dimerisation pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 61 0 0 35 24 40.678 TIGD4 0 genome.wustl.edu 37 4 153691842 153691842 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 153691842 153691842 A C SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known silent c.315 p.V105 0.998 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 163 0 0 122 55 31.0734 FHDC1 0 genome.wustl.edu 37 4 153896828 153896828 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 153896828 153896828 C T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.2385 p.G795 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 184 0 0 90 50 35.7143 CC2D2A 0 genome.wustl.edu 37 4 15504497 15504497 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 15504497 15504497 G A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.389 p.R130H 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 20 0 0 11 6 35.2941 DCHS2 0 genome.wustl.edu 37 4 155242229 155242229 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 155242229 155242229 A C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.2957 p.F986C 0.923 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 95 0 0 46 35 43.2099 DCHS2 0 genome.wustl.edu 37 4 155298497 155298497 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 155298497 155298497 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.334 p.D112N 0.296 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_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 110 0 0 59 31 34.4444 ZNF718 0 genome.wustl.edu 37 4 155467 155467 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 155467 155467 G A SNP ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors ZNF718 HGNC ENSG00000250312 40 0 0 11 8 42.1053 FGA 0 genome.wustl.edu 37 4 155505592 155505592 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 155505592 155505592 G A SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.2285 p.A762V 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 220 0 0 109 55 33.5366 RBM46 0 genome.wustl.edu 37 4 155717946 155717946 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 155717946 155717946 A C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.42 p.K14N 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 36 0 0 39 13 25 RBM46 0 genome.wustl.edu 37 4 155720683 155720683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 155720683 155720683 G A SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.1369 p.E457K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 28 0 0 17 6 26.087 CC2D2A 0 genome.wustl.edu 37 4 15589443 15589443 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 15589443 15589443 T G SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.4070 p.F1357C 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 33 0 0 15 7 31.8182 FBXL5 0 genome.wustl.edu 37 4 15627020 15627020 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 15627020 15627020 T G SNP FBXL5 ENST00000341285 human ensembl 74_37 -1 known missense c.1705 p.M569L 0.150 NULL pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL5 HGNC ENSG00000118564 60 0 0 27 15 35.7143 MAP9 0 genome.wustl.edu 37 4 156281545 156281545 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 156281545 156281545 T G SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.825 p.E275D 0.997 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 50 0 0 29 16 35.5556 MAP9 0 genome.wustl.edu 37 4 156294541 156294541 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 156294541 156294541 A C SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.228 p.F76L 0.987 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 33 0 0 24 12 33.3333 GUCY1A3 0 genome.wustl.edu 37 4 156632398 156632398 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 156632398 156632398 T G SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.1081 p.S361A 0.995 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 83 0 0 45 24 34.7826 GUCY1B3 0 genome.wustl.edu 37 4 156725805 156725805 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 156725805 156725805 C T SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known nonsense c.1615 p.R539* 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 91 0 0 58 24 29.2683 CTSO 0 genome.wustl.edu 37 4 156847209 156847209 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 156847209 156847209 G A SNP CTSO ENST00000433477 human ensembl 74_37 -1 known silent c.945 p.S315 0.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 21 0 0 25 8 24.2424 CTSO 0 genome.wustl.edu 37 4 156860584 156860584 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 156860584 156860584 G A SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.491 p.S164L 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 192 0 0 113 43 27.5641 GRIA2 0 genome.wustl.edu 37 4 158257880 158257880 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 158257880 158257880 G T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known nonsense c.1825 p.G609* 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 201 0 0 105 48 31.3725 GRIA2 0 genome.wustl.edu 37 4 158262455 158262455 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 158262455 158262455 C A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1884 p.F628L 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 186 0 0 114 64 35.9551 GRIA2 0 genome.wustl.edu 37 4 158262572 158262572 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 158262572 158262572 T G SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known silent c.2001 p.A667 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 185 1 0.537634 105 68 39.3064 CD38 0 genome.wustl.edu 37 4 15850203 15850203 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 15850203 15850203 C A SNP CD38 ENST00000226279 human ensembl 74_37 +1 known nonsense c.881 p.S294* 0.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 52 0 0 39 14 26.4151 ENSG00000251429 0 genome.wustl.edu 37 4 159198967 159198967 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 159198967 159198967 G A SNP ENSG00000251429 ENST00000512016 human ensembl 74_37 +1 known rna NULL NULL 0.114 - - - no_errors RP11-597D13.7 Clone_based_vega_gene ENSG00000251429 24 0 0 12 5 29.4118 RXFP1 0 genome.wustl.edu 37 4 159494048 159494048 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 159494048 159494048 C T SNP RXFP1 ENST00000484785 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RXFP1 HGNC ENSG00000171509 51 0 0 32 15 31.9149 RXFP1 0 genome.wustl.edu 37 4 159567986 159567986 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 159567986 159567986 C T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known silent c.1389 p.G463 0.817 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 162 0 0 100 36 26.4706 PPID 0 genome.wustl.edu 37 4 159644354 159644354 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 159644354 159644354 A G SNP PPID ENST00000307720 human ensembl 74_37 -1 known splice_site c.85+2 e1+2 1.000 - - - no_errors PPID HGNC ENSG00000171497 22 0 0 17 6 26.087 FNIP2 0 genome.wustl.edu 37 4 159789335 159789335 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 159789335 159789335 G A SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.1616 p.R539Q 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 191 1 0.520833 84 50 37.3134 RAPGEF2 0 genome.wustl.edu 37 4 160235815 160235815 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 160235815 160235815 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.265 p.D89N 1.000 NULL 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 88 0 0 51 17 25 RAPGEF2 0 genome.wustl.edu 37 4 160252923 160252923 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 160252923 160252923 T G SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.1234 p.F412V 1.000 pfam_PDZ,superfamily_Ras_GEF_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 199 0 0 136 60 30.6122 FSTL5 0 genome.wustl.edu 37 4 162402200 162402200 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 162402200 162402200 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1580 p.V527A 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 158 0 0 87 49 36.0294 FSTL5 0 genome.wustl.edu 37 4 162402250 162402250 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 162402250 162402250 T G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1530 p.K510N 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 192 0 0 159 11 6.47059 FSTL5 0 genome.wustl.edu 37 4 162463795 162463795 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 162463795 162463795 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1066 p.V356I 0.994 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 103 0 0 83 9 9.78261 NPY1R 0 genome.wustl.edu 37 4 164247294 164247294 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 164247294 164247294 C T SNP NPY1R ENST00000296533 human ensembl 74_37 -1 known missense c.413 p.R138Q 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 162 0 0 76 56 42.4242 TKTL2 0 genome.wustl.edu 37 4 164393208 164393208 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 164393208 164393208 A C SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.1679 p.V560G 0.832 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 160 0 0 101 34 25.1852 TKTL2 0 genome.wustl.edu 37 4 164394533 164394533 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 164394533 164394533 A C SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.354 p.F118L 0.978 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 97 0 0 57 20 25.974 TRIM61 0 genome.wustl.edu 37 4 165891030 165891030 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 165891030 165891030 A G SNP TRIM61 ENST00000329314 human ensembl 74_37 -1 known missense c.125 p.M42T 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 99 0 0 74 19 20.4301 TMEM192 0 genome.wustl.edu 37 4 166021968 166021968 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166021968 166021968 C T SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known missense c.251 p.G84E 1.000 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 85 0 0 54 14 20.5882 KLHL2 0 genome.wustl.edu 37 4 166141138 166141138 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166141138 166141138 G A SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.79 p.E27K 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 92 0 0 54 14 20.5882 KLHL2 0 genome.wustl.edu 37 4 166141156 166141156 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166141156 166141156 A G SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.97 p.T33A 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 83 0 0 55 14 20.2899 KLHL2 0 genome.wustl.edu 37 4 166232625 166232625 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166232625 166232625 C T SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.1247 p.S416F 0.994 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 188 0 0 97 52 34.8993 KLHL2 0 genome.wustl.edu 37 4 166243336 166243336 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166243336 166243336 G A SNP KLHL2 ENST00000509028 human ensembl 74_37 +1 known rna NULL NULL 0.746 - - - no_errors KLHL2 HGNC ENSG00000109466 26 0 0 14 6 30 CPE 0 genome.wustl.edu 37 4 166403472 166403472 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166403472 166403472 G T SNP CPE ENST00000402744 human ensembl 74_37 +1 known missense c.751 p.D251Y 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 105 0 0 71 40 36.036 TLL1 0 genome.wustl.edu 37 4 166999181 166999181 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 166999181 166999181 T G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known nonsense c.2441 p.L814* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 64 0 0 34 20 37.037 DDX60 0 genome.wustl.edu 37 4 169194428 169194428 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 169194428 169194428 A G SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known splice_site c.2574+2 e17+2 0.996 - - - no_errors DDX60 HGNC ENSG00000137628 56 0 0 39 22 36.0656 DDX60 0 genome.wustl.edu 37 4 169197322 169197322 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 169197322 169197322 C T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known silent c.1989 p.T663 0.004 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 54 0 0 34 13 27.6596 DDX60L 0 genome.wustl.edu 37 4 169305863 169305863 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 169305863 169305863 A G SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.4016 p.V1339A 0.994 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 53 0 0 20 16 44.4444 NEK1 0 genome.wustl.edu 37 4 170428878 170428878 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 170428878 170428878 G A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.1899 p.I633 0.186 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 41 0 0 30 13 30.2326 MFAP3L 0 genome.wustl.edu 37 4 170913428 170913428 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 170913428 170913428 T C SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known missense c.331 p.N111D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 171 0 0 82 29 26.1261 GALNTL6 0 genome.wustl.edu 37 4 173930333 173930333 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 173930333 173930333 G A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.1376 p.R459Q 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 120 0 0 67 19 22.093 SAP30 0 genome.wustl.edu 37 4 174294593 174294593 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 174294593 174294593 G A SNP SAP30 ENST00000296504 human ensembl 74_37 +1 known missense c.368 p.R123Q 1.000 NULL NULL - no_errors SAP30 HGNC ENSG00000164105 123 0 0 75 36 32.4324 SAP30 0 genome.wustl.edu 37 4 174298430 174298430 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 174298430 174298430 G T SNP SAP30 ENST00000296504 human ensembl 74_37 +1 known missense c.615 p.K205N 1.000 NULL NULL - no_errors SAP30 HGNC ENSG00000164105 146 0 0 93 39 29.5455 CLRN2 0 genome.wustl.edu 37 4 17528593 17528593 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 17528593 17528593 C T SNP CLRN2 ENST00000511148 human ensembl 74_37 +1 known missense c.587 p.A196V 0.969 NULL pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 102 0 0 47 29 38.1579 LAP3 0 genome.wustl.edu 37 4 17609289 17609289 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 17609289 17609289 A C SNP LAP3 ENST00000503467 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LAP3 HGNC ENSG00000002549 30 0 0 21 9 30 WDR17 0 genome.wustl.edu 37 4 177067147 177067147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177067147 177067147 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1603 p.D535N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 88 0 0 44 8 15.3846 WDR17 0 genome.wustl.edu 37 4 177095773 177095773 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177095773 177095773 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.3470 p.R1157Q 1.000 NULL 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 83 0 0 39 31 44.2857 SPATA4 0 genome.wustl.edu 37 4 177105979 177105979 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177105979 177105979 A C SNP SPATA4 ENST00000280191 human ensembl 74_37 -1 known silent c.870 p.S290 0.000 NULL pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 90 0 0 71 28 28.2828 SPATA4 0 genome.wustl.edu 37 4 177109304 177109304 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177109304 177109304 T G SNP SPATA4 ENST00000280191 human ensembl 74_37 -1 known missense c.771 p.L257F 0.000 NULL pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 70 0 0 42 20 32.2581 SPATA4 0 genome.wustl.edu 37 4 177113869 177113869 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177113869 177113869 G A SNP SPATA4 ENST00000280191 human ensembl 74_37 -1 known silent c.597 p.S199 0.700 pfam_DUF1042 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 77 0 0 44 18 29.0323 ASB5 0 genome.wustl.edu 37 4 177136836 177136836 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177136836 177136836 C T SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.905 p.R302Q 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 58 0 0 31 18 36.7347 SPCS3 0 genome.wustl.edu 37 4 177243323 177243323 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177243323 177243323 A C SNP SPCS3 ENST00000503362 human ensembl 74_37 +1 known missense c.146 p.K49T 1.000 pfam_SPC22,pirsf_SPC22 pfam_SPC22,pirsf_SPC22 - no_errors SPCS3 HGNC ENSG00000129128 33 0 0 30 17 36.1702 VEGFC 0 genome.wustl.edu 37 4 177649045 177649045 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177649045 177649045 C T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.439 p.A147T 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 120 0 0 70 28 28.5714 VEGFC 0 genome.wustl.edu 37 4 177650885 177650885 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 177650885 177650885 C A SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.163 p.D55Y 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 76 0 0 46 16 25.8065 AGA 0 genome.wustl.edu 37 4 178354419 178354419 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 178354419 178354419 A C SNP AGA ENST00000264595 human ensembl 74_37 -1 known missense c.889 p.F297V 0.995 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 193 0 0 126 63 33.3333 NCAPG 0 genome.wustl.edu 37 4 17838918 17838918 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 17838918 17838918 G A SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2246 p.R749Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 98 0 0 58 24 29.2683 NCAPG 0 genome.wustl.edu 37 4 17845005 17845005 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 17845005 17845005 G A SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.3005 p.S1002N 1.000 NULL superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 91 0 0 124 7 5.34351 FGFR3 0 genome.wustl.edu 37 4 1805474 1805474 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 1805474 1805474 T C SNP FGFR3 ENST00000260795 human ensembl 74_37 +1 known missense c.986 p.V329A 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 75 0 0 35 18 33.9623 TENM3 0 genome.wustl.edu 37 4 183714517 183714517 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 183714517 183714517 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.6692 p.G2231V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 83 0 0 37 24 39.3443 CLDN22 0 genome.wustl.edu 37 4 184240709 184240709 + Nonstop_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 184240709 184240709 T G SNP CLDN22 ENST00000323319 human ensembl 74_37 -1 known nonstop c.663 p.*221Y 0.995 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 412 0 0 218 91 29.4498 STOX2 0 genome.wustl.edu 37 4 184931772 184931772 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 184931772 184931772 A G SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.1781 p.K594R 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 49 0 0 37 22 37.2881 IRF2 0 genome.wustl.edu 37 4 185340688 185340688 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 185340688 185340688 G A SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.122 p.A41V 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 155 0 0 87 29 25 HELT 0 genome.wustl.edu 37 4 185940639 185940639 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 185940639 185940639 G A SNP HELT ENST00000338875 human ensembl 74_37 +1 known silent c.258 p.A86 0.992 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 19 0 0 11 5 31.25 SNX25 0 genome.wustl.edu 37 4 186244746 186244746 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186244746 186244746 C A SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known missense c.1049 p.S350Y 0.944 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 48 0 0 62 26 29.5455 SNX25 0 genome.wustl.edu 37 4 186272701 186272701 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186272701 186272701 A C SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known missense c.1912 p.N638H 0.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 116 0 0 66 34 34 SNX25 0 genome.wustl.edu 37 4 186278858 186278858 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186278858 186278858 T G SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known missense c.2126 p.L709R 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 109 0 0 63 25 28.4091 LRP2BP 0 genome.wustl.edu 37 4 186288369 186288369 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186288369 186288369 C A SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known nonsense c.1015 p.E339* 1.000 NULL pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 137 0 0 103 48 31.7881 CCDC110 0 genome.wustl.edu 37 4 186380271 186380271 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186380271 186380271 A C SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.1470 p.I490M 0.853 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 42 0 0 46 9 16.3636 CCDC110 0 genome.wustl.edu 37 4 186381000 186381000 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186381000 186381000 T G SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.741 p.Q247H 0.995 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 137 0 0 88 46 34.3284 SORBS2 0 genome.wustl.edu 37 4 186536109 186536109 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 186536109 186536109 A C SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.2759 p.L920R 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 148 0 0 76 30 28.3019 TLR3 0 genome.wustl.edu 37 4 187003649 187003649 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187003649 187003649 G A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.809 p.G270E 1.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 118 0 0 66 31 31.9588 FAM149A 0 genome.wustl.edu 37 4 187088351 187088351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187088351 187088351 G A SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.2183 p.R728Q 0.968 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 158 0 0 94 52 35.6164 MTNR1A 0 genome.wustl.edu 37 4 187455635 187455635 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187455635 187455635 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.261 p.S87 0.081 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 85 0 0 55 28 33.7349 FAT1 0 genome.wustl.edu 37 4 187517847 187517847 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187517847 187517847 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.12847 p.E4283K 0.985 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 63 0 0 24 17 41.4634 FAT1 0 genome.wustl.edu 37 4 187524488 187524488 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187524488 187524488 A C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.11192 p.L3731R 0.319 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 59 0 0 21 17 44.7368 FAT1 0 genome.wustl.edu 37 4 187524871 187524871 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187524871 187524871 T G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.10809 p.K3603N 0.074 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 75 0 0 32 26 44.8276 FAT1 0 genome.wustl.edu 37 4 187532563 187532563 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187532563 187532563 T G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.9830 p.K3277T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 43 0 0 28 16 36.3636 FAT1 0 genome.wustl.edu 37 4 187541629 187541629 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187541629 187541629 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.6111 p.T2037 0.040 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 334 0 0 192 78 28.8889 FAT1 0 genome.wustl.edu 37 4 187542860 187542860 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187542860 187542860 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.4880 p.R1627Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 29 0 0 22 11 33.3333 FAT1 0 genome.wustl.edu 37 4 187549793 187549793 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 187549793 187549793 T G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.4448 p.Q1483P 0.660 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 92 0 0 56 18 24.3243 TRIML2 0 genome.wustl.edu 37 4 189012796 189012796 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 189012796 189012796 C T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.895 p.E299K 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 330 1 0.302115 160 58 26.6055 TRIML1 0 genome.wustl.edu 37 4 189064957 189064957 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 189064957 189064957 C T SNP TRIML1 ENST00000507581 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIML1 HGNC ENSG00000184108 291 0 0 147 51 25.7576 WHSC1 0 genome.wustl.edu 37 4 1902902 1902902 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 1902902 1902902 A C SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.521 p.K174T 0.970 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 91 0 0 46 24 34.2857 HSP90AA4P 0 genome.wustl.edu 37 4 190394378 190394378 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 190394378 190394378 G A SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors HSP90AA4P HGNC ENSG00000205100 81 0 0 35 12 25.5319 NELFA 0 genome.wustl.edu 37 4 1985339 1985339 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 1985339 1985339 G T SNP NELFA ENST00000382882 human ensembl 74_37 -1 known missense c.1419 p.F473L 1.000 NULL NULL - no_errors NELFA HGNC ENSG00000185049 115 0 0 51 22 30.137 SLIT2 0 genome.wustl.edu 37 4 20598177 20598177 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 20598177 20598177 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3460 p.E1154K 0.999 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom 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 83 0 0 41 24 36.9231 SLIT2 0 genome.wustl.edu 37 4 20618673 20618673 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 20618673 20618673 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3988 p.L1330V 0.997 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G 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 119 0 0 51 27 34.6154 POLN 0 genome.wustl.edu 37 4 2172450 2172450 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 2172450 2172450 G A SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.1510 p.P504S 0.820 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 193 0 0 110 52 32.0988 POLN 0 genome.wustl.edu 37 4 2210191 2210191 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 2210191 2210191 C T SNP POLN ENST00000382865 human ensembl 74_37 -1 known silent c.237 p.Q79 0.568 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 89 0 0 55 28 33.7349 MXD4 0 genome.wustl.edu 37 4 2252282 2252282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 2252282 2252282 C T SNP MXD4 ENST00000337190 human ensembl 74_37 -1 known missense c.619 p.A207T 0.129 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD4 HGNC ENSG00000123933 21 0 0 12 4 25 DHX15 0 genome.wustl.edu 37 4 24550623 24550623 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 24550623 24550623 C A SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.1103 p.R368I 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 70 0 0 46 29 38.6667 ZNF876P 0 genome.wustl.edu 37 4 247977 247977 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 247977 247977 T C SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors ZNF876P HGNC ENSG00000198155 32 0 0 28 7 20 ZNF876P 0 genome.wustl.edu 37 4 248195 248195 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 248195 248195 G T SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF876P HGNC ENSG00000198155 50 0 0 37 20 35.0877 ZNF876P 0 genome.wustl.edu 37 4 248322 248322 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 248322 248322 C T SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.948 - - - no_errors ZNF876P HGNC ENSG00000198155 19 0 0 23 7 23.3333 LGI2 0 genome.wustl.edu 37 4 25019737 25019737 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 25019737 25019737 A C SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.529 p.W177G 1.000 smart_Cys-rich_flank_reg_C pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 133 0 0 81 35 30.1724 LGI2 0 genome.wustl.edu 37 4 25030162 25030162 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 25030162 25030162 C T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.236 p.R79Q 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 34 0 0 13 8 38.0952 ZCCHC4 0 genome.wustl.edu 37 4 25315706 25315706 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 25315706 25315706 G T SNP ZCCHC4 ENST00000302874 human ensembl 74_37 +1 known nonsense c.166 p.E56* 1.000 pfam_Znf_GRF pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZCCHC4 HGNC ENSG00000168228 173 1 0.574713 112 64 36.3636 SLC34A2 0 genome.wustl.edu 37 4 25665855 25665855 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 25665855 25665855 C A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.282 p.F94L 0.396 NULL pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 187 0 0 81 56 40.8759 SEL1L3 0 genome.wustl.edu 37 4 25769163 25769163 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 25769163 25769163 G A SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known silent c.2829 p.I943 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 8 0 0 5 6 54.5455 SEL1L3 0 genome.wustl.edu 37 4 25834646 25834646 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 25834646 25834646 G A SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known nonsense c.1069 p.R357* 0.980 superfamily_ConA-like_lec_gl_sf pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 104 0 0 55 29 34.5238 RBPJ 0 genome.wustl.edu 37 4 26407849 26407849 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 26407849 26407849 C T SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known missense c.151 p.L51F 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 96 0 0 72 39 35.1351 CCKAR 0 genome.wustl.edu 37 4 26483749 26483749 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 26483749 26483749 G A SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known silent c.798 p.S266 0.473 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 145 0 0 63 32 33.6842 ZNF732 0 genome.wustl.edu 37 4 266034 266034 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 266034 266034 A T SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.612 p.F204L 0.004 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 ZNF732 HGNC ENSG00000186777 28 0 0 13 10 43.4783 TBC1D19 0 genome.wustl.edu 37 4 26685314 26685314 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 26685314 26685314 G A SNP TBC1D19 ENST00000264866 human ensembl 74_37 +1 known silent c.834 p.E278 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 120 0 0 78 31 28.4404 FAM193A 0 genome.wustl.edu 37 4 2673955 2673955 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 2673955 2673955 C A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.1314 p.F438L 0.957 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 120 0 0 53 28 34.5679 STIM2 0 genome.wustl.edu 37 4 27019550 27019550 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 27019550 27019550 G A SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known silent c.1992 p.A664 0.954 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 517 0 0 263 122 31.6883 ZNF732 0 genome.wustl.edu 37 4 289920 289920 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 289920 289920 C T SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.28 p.A10T 0.235 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 ZNF732 HGNC ENSG00000186777 81 0 0 55 29 34.5238 GRK4 0 genome.wustl.edu 37 4 3006044 3006044 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3006044 3006044 C A SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known silent c.426 p.A142 0.193 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 158 0 0 100 42 29.5775 PCDH7 0 genome.wustl.edu 37 4 30723560 30723560 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 30723560 30723560 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known silent c.516 p.F172 0.993 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 15 0 0 8 8 50 PCDH7 0 genome.wustl.edu 37 4 30723906 30723906 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 30723906 30723906 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.862 p.R288C 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 21 0 0 15 5 25 HTT 0 genome.wustl.edu 37 4 3088673 3088673 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3088673 3088673 G T SNP HTT ENST00000355072 human ensembl 74_37 +1 known nonsense c.271 p.E91* 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 50 0 0 38 16 29.6296 HTT 0 genome.wustl.edu 37 4 3138026 3138026 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3138026 3138026 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.2771 p.R924Q 0.999 pfam_HEAT,superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 60 0 0 39 22 36.0656 HTT 0 genome.wustl.edu 37 4 3184144 3184144 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3184144 3184144 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known nonsense c.4813 p.R1605* 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 100 0 0 45 25 35.7143 HTT 0 genome.wustl.edu 37 4 3201479 3201479 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3201479 3201479 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5389 p.A1797T 0.996 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 108 0 0 55 30 35.2941 HTT 0 genome.wustl.edu 37 4 3210534 3210534 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3210534 3210534 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.6187 p.R2063C 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 77 0 0 52 19 26.7606 RGS12 0 genome.wustl.edu 37 4 3318097 3318097 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3318097 3318097 T C SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.200 p.V67A 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 99 0 0 35 20 36.3636 HGFAC 0 genome.wustl.edu 37 4 3449301 3449301 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3449301 3449301 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1438 p.E480K 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 467 0 0 192 101 34.471 LRPAP1 0 genome.wustl.edu 37 4 3516638 3516638 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 3516638 3516638 G A SNP LRPAP1 ENST00000500728 human ensembl 74_37 -1 known silent c.852 p.F284 0.759 pfam_Alpha_2_MRAP_C,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC ENSG00000163956 204 0 0 89 47 34.5588 PTTG2 0 genome.wustl.edu 37 4 37962363 37962363 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 37962363 37962363 C A SNP PTTG2 ENST00000504686 human ensembl 74_37 +1 known missense c.308 p.S103Y 0.007 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG2 HGNC ENSG00000250254 159 0 0 111 49 30.625 KLF3 0 genome.wustl.edu 37 4 38690382 38690382 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 38690382 38690382 G A SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known silent c.234 p.S78 0.110 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 115 0 0 60 29 32.5843 TLR10 0 genome.wustl.edu 37 4 38774898 38774898 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 38774898 38774898 G A SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known nonsense c.2314 p.R772* 0.732 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 121 0 0 72 37 33.945 TLR10 0 genome.wustl.edu 37 4 38775961 38775961 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 38775961 38775961 G A SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known silent c.1251 p.C417 0.942 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 103 0 0 97 23 19.1667 TLR1 0 genome.wustl.edu 37 4 38799017 38799017 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 38799017 38799017 G T SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.1436 p.S479Y 0.241 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 163 0 0 80 62 43.662 TLR1 0 genome.wustl.edu 37 4 38799487 38799487 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 38799487 38799487 G T SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known silent c.966 p.I322 0.793 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 76 0 0 60 22 26.8293 TMEM156 0 genome.wustl.edu 37 4 39000286 39000286 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 39000286 39000286 A C SNP TMEM156 ENST00000381938 human ensembl 74_37 -1 known missense c.332 p.F111C 1.000 NULL NULL - no_errors TMEM156 HGNC ENSG00000121895 30 0 0 18 15 45.4545 WDR19 0 genome.wustl.edu 37 4 39276564 39276564 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 39276564 39276564 C T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known silent c.3702 p.I1234 0.979 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 74 0 0 37 19 33.9286 RFC1 0 genome.wustl.edu 37 4 39290437 39290437 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 39290437 39290437 T G SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.3391 p.K1131Q 1.000 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 98 0 0 64 29 31.1828 PDS5A 0 genome.wustl.edu 37 4 39905808 39905808 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 39905808 39905808 G A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known nonsense c.1237 p.R413* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 27 0 0 15 6 28.5714 N4BP2 0 genome.wustl.edu 37 4 40119490 40119490 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 40119490 40119490 C T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.1666 p.R556C 1.000 superfamily_P-loop_NTPase pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 57 0 0 25 13 34.2105 APBB2 0 genome.wustl.edu 37 4 40823991 40823991 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 40823991 40823991 A C SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known missense c.2006 p.F669C 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 126 0 0 48 28 36.8421 DCAF4L1 0 genome.wustl.edu 37 4 41984086 41984086 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 41984086 41984086 G A SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.277 p.E93K 0.980 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 114 0 0 81 8 8.98876 ATP8A1 0 genome.wustl.edu 37 4 42414996 42414996 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 42414996 42414996 G A SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known silent c.3432 p.I1144 0.927 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 40 0 0 28 25 47.1698 TMEM128 0 genome.wustl.edu 37 4 4248040 4248040 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 4248040 4248040 T G SNP TMEM128 ENST00000382753 human ensembl 74_37 -1 known missense c.128 p.K43T 1.000 NULL NULL - no_errors TMEM128 HGNC ENSG00000132406 108 0 0 74 37 33.3333 ATP8A1 0 genome.wustl.edu 37 4 42577698 42577698 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 42577698 42577698 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.1147 p.E383K 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 206 0 0 181 18 9.04523 GRXCR1 0 genome.wustl.edu 37 4 43032469 43032469 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 43032469 43032469 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.785 p.R262Q 1.000 superfamily_HSP_DnaJ_Cys-rich_dom pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 193 0 0 117 57 32.7586 ZNF721 0 genome.wustl.edu 37 4 435862 435862 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 435862 435862 T G SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.2394 p.K798N 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 57 0 0 56 26 31.7073 ZNF721 0 genome.wustl.edu 37 4 437198 437198 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 437198 437198 C A SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.1058 p.R353I 0.219 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 99 0 0 65 23 26.1364 ZNF721 0 genome.wustl.edu 37 4 437786 437786 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 437786 437786 T G SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.470 p.K157T 0.036 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 160 0 0 103 49 32.2368 GNPDA2 0 genome.wustl.edu 37 4 44709820 44709820 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 44709820 44709820 C T SNP GNPDA2 ENST00000295448 human ensembl 74_37 -1 known missense c.718 p.D240N 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 62 0 0 27 13 32.5 ZNF721 0 genome.wustl.edu 37 4 466372 466372 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 466372 466372 A G SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.26 p.V9A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 97 0 0 66 32 32.6531 COX7B2 0 genome.wustl.edu 37 4 46737011 46737011 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 46737011 46737011 G A SNP COX7B2 ENST00000302930 human ensembl 74_37 -1 known silent c.199 p.L67 0.705 pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom - no_errors COX7B2 HGNC ENSG00000170516 119 0 0 71 33 31.7308 GABRA4 0 genome.wustl.edu 37 4 46930668 46930668 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 46930668 46930668 A C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.1239 p.S413 0.002 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 112 0 0 59 32 35.1648 GABRB1 0 genome.wustl.edu 37 4 47405722 47405722 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47405722 47405722 G A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.829 p.A277T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 92 0 0 53 21 28.3784 ATP10D 0 genome.wustl.edu 37 4 47593305 47593305 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47593305 47593305 A C SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.4188 p.G1396 0.002 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 223 0 0 122 62 33.6957 CORIN 0 genome.wustl.edu 37 4 47597786 47597786 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47597786 47597786 G A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known silent c.3081 p.V1027 0.000 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 108 1 0.917431 67 29 30.2083 CORIN 0 genome.wustl.edu 37 4 47602261 47602261 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47602261 47602261 G A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known silent c.2916 p.G972 1.000 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 87 0 0 63 28 30.7692 CORIN 0 genome.wustl.edu 37 4 47645079 47645079 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47645079 47645079 C T SNP CORIN ENST00000504584 human ensembl 74_37 -1 novel missense c.2041 p.D681N 0.000 NULL pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CORIN HGNC ENSG00000145244 27 0 0 15 11 42.3077 CORIN 0 genome.wustl.edu 37 4 47663851 47663851 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47663851 47663851 C A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known nonsense c.1612 p.E538* 1.000 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 61 0 0 40 16 28.5714 CORIN 0 genome.wustl.edu 37 4 47667215 47667215 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47667215 47667215 T G SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.1423 p.N475H 1.000 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 124 0 0 74 28 27.451 CORIN 0 genome.wustl.edu 37 4 47765400 47765400 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47765400 47765400 C A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.613 p.D205Y 1.000 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 32 0 0 18 8 30.7692 NFXL1 0 genome.wustl.edu 37 4 47887941 47887941 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47887941 47887941 C T SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.1619 p.G540D 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 283 0 0 161 81 33.4711 CNGA1 0 genome.wustl.edu 37 4 47939313 47939313 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47939313 47939313 T G SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.1405 p.I469L 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 171 0 0 94 35 27.1318 CNGA1 0 genome.wustl.edu 37 4 47942804 47942804 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 47942804 47942804 C T SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.847 p.D283N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 61 0 0 69 18 20.6897 SLAIN2 0 genome.wustl.edu 37 4 48371900 48371900 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48371900 48371900 A C SNP SLAIN2 ENST00000264313 human ensembl 74_37 +1 known missense c.424 p.M142L 0.978 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 72 0 0 40 36 47.3684 SLC10A4 0 genome.wustl.edu 37 4 48486071 48486071 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48486071 48486071 G A SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known missense c.493 p.E165K 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 27 0 0 26 4 13.3333 SLC10A4 0 genome.wustl.edu 37 4 48490559 48490559 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48490559 48490559 T G SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known missense c.917 p.F306C 1.000 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 254 0 0 154 80 34.188 FRYL 0 genome.wustl.edu 37 4 48501327 48501327 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48501327 48501327 A C SNP FRYL ENST00000512810 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FRYL HGNC ENSG00000075539 32 0 0 20 10 33.3333 FRYL 0 genome.wustl.edu 37 4 48559550 48559550 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48559550 48559550 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.4045 p.R1349C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 215 0 0 138 58 29.5918 FRYL 0 genome.wustl.edu 37 4 48577170 48577170 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48577170 48577170 A G SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.2810 p.V937A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 121 0 0 80 30 27.2727 FRYL 0 genome.wustl.edu 37 4 48583531 48583531 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48583531 48583531 A G SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.2078 p.V693A 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 81 0 0 37 24 39.3443 FRYL 0 genome.wustl.edu 37 4 48611819 48611819 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 48611819 48611819 C T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.433 p.D145N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 38 0 0 26 9 25.7143 PIGG 0 genome.wustl.edu 37 4 499698 499698 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 499698 499698 C T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known silent c.552 p.F184 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 65 0 0 37 18 32.7273 CYTL1 0 genome.wustl.edu 37 4 5018581 5018581 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 5018581 5018581 C A SNP CYTL1 ENST00000307746 human ensembl 74_37 -1 known missense c.309 p.M103I 1.000 NULL NULL - no_errors CYTL1 HGNC ENSG00000170891 226 0 0 111 67 37.6404 LRRC66 0 genome.wustl.edu 37 4 52860895 52860895 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 52860895 52860895 T C SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.2293 p.K765E 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 129 0 0 67 25 27.1739 SPATA18 0 genome.wustl.edu 37 4 52946066 52946066 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 52946066 52946066 G A SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.1336 p.E446K 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 236 0 0 129 60 31.746 LNX1 0 genome.wustl.edu 37 4 54343119 54343119 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 54343119 54343119 C T SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.1693 p.E565K 0.975 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 215 0 0 131 45 25.5682 LNX1-AS1 0 genome.wustl.edu 37 4 54362652 54362652 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 54362652 54362652 C A SNP LNX1-AS1 ENST00000502373 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LNX1-AS1 HGNC ENSG00000250930 19 0 0 4 4 50 CHIC2 0 genome.wustl.edu 37 4 54880282 54880282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 54880282 54880282 C T SNP CHIC2 ENST00000263921 human ensembl 74_37 -1 known missense c.335 p.R112Q 1.000 pfam_Golgin_A_7/ERF4 pfam_Golgin_A_7/ERF4 - no_errors CHIC2 HGNC ENSG00000109220 53 0 0 34 16 32 PDGFRA 0 genome.wustl.edu 37 4 55131147 55131147 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 55131147 55131147 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.690 p.T230 0.919 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 165 0 0 97 44 31.2057 PDGFRA 0 genome.wustl.edu 37 4 55138668 55138668 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 55138668 55138668 A G SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.1345 p.I449V 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 110 0 0 66 29 30.5263 PDGFRA 0 genome.wustl.edu 37 4 55139855 55139855 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 55139855 55139855 C A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.1516 p.L506I 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 82 0 0 43 23 34.8485 C4orf6 0 genome.wustl.edu 37 4 5528021 5528021 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 5528021 5528021 C T SNP C4orf6 ENST00000195455 human ensembl 74_37 +1 known missense c.245 p.T82I 0.000 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 84 0 0 44 19 30.1587 KIT 0 genome.wustl.edu 37 4 55561801 55561801 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 55561801 55561801 T C SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.191 p.V64A 0.905 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 102 0 0 58 21 26.5823 KIT 0 genome.wustl.edu 37 4 55575630 55575630 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 55575630 55575630 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1156 p.E386K 0.994 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 99 0 0 65 34 34.3434 NMU 0 genome.wustl.edu 37 4 56466696 56466696 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 56466696 56466696 A C SNP NMU ENST00000264218 human ensembl 74_37 -1 known nonsense c.482 p.L161* 0.977 pfam_NMU_C,smart_NMU_C pfam_NMU_C,smart_NMU_C - no_errors NMU HGNC ENSG00000109255 46 0 0 44 25 36.2319 NMU 0 genome.wustl.edu 37 4 56473499 56473499 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 56473499 56473499 G A SNP NMU ENST00000264218 human ensembl 74_37 -1 known missense c.326 p.S109L 0.998 NULL pfam_NMU_C,smart_NMU_C - no_errors NMU HGNC ENSG00000109255 61 0 0 50 25 33.3333 EXOC1 0 genome.wustl.edu 37 4 56736848 56736848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 56736848 56736848 A G SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.608 p.N203S 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 91 0 0 53 25 32.0513 EVC2 0 genome.wustl.edu 37 4 5683025 5683025 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 5683025 5683025 T G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.832 p.K278Q 0.945 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 66 0 0 35 16 31.3725 CEP135 0 genome.wustl.edu 37 4 56835228 56835228 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 56835228 56835228 G A SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known splice_site c.1045-1 e8-1 1.000 - - - no_errors CEP135 HGNC ENSG00000174799 38 0 0 42 7 14.2857 CEP135 0 genome.wustl.edu 37 4 56865579 56865579 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 56865579 56865579 G T SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.2121 p.K707N 0.102 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 69 0 0 43 23 34.8485 CEP135 0 genome.wustl.edu 37 4 56884001 56884001 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 56884001 56884001 C T SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.2990 p.S997L 0.983 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 42 0 0 9 21 70 AASDH 0 genome.wustl.edu 37 4 57204655 57204655 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57204655 57204655 A G SNP AASDH ENST00000205214 human ensembl 74_37 -1 known silent c.3210 p.S1070 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 86 0 0 60 15 20 AASDH 0 genome.wustl.edu 37 4 57220879 57220879 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57220879 57220879 A G SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.1202 p.V401A 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 119 0 0 90 34 27.4194 ENSG00000270147 0 genome.wustl.edu 37 4 57262919 57262919 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57262919 57262919 C A SNP ENSG00000270147 ENST00000602749 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RP11-646I6.6 Clone_based_vega_gene ENSG00000270147 85 0 0 60 24 28.5714 PPAT 0 genome.wustl.edu 37 4 57267619 57267619 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57267619 57267619 T C SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.763 p.I255V 1.000 pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 25 0 0 25 12 32.4324 EVC 0 genome.wustl.edu 37 4 5750029 5750029 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 5750029 5750029 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1094 p.A365V 0.784 NULL NULL - no_errors EVC HGNC ENSG00000072840 73 0 0 35 11 23.913 REST 0 genome.wustl.edu 37 4 57777156 57777156 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57777156 57777156 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.352 p.V118I 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 124 0 0 60 30 33.3333 REST 0 genome.wustl.edu 37 4 57796369 57796369 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57796369 57796369 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.1345 p.E449K 0.910 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 52 0 0 47 20 29.8507 REST 0 genome.wustl.edu 37 4 57797984 57797984 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57797984 57797984 A G SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.2960 p.K987R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 110 0 0 52 29 35.8025 NOA1 0 genome.wustl.edu 37 4 57834643 57834643 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57834643 57834643 A C SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known silent c.1554 p.V518 1.000 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 46 0 0 44 23 34.3284 POLR2B 0 genome.wustl.edu 37 4 57857005 57857005 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57857005 57857005 G A SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.184 p.A62T 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 120 0 0 63 24 27.5862 POLR2B 0 genome.wustl.edu 37 4 57889730 57889730 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 57889730 57889730 A C SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.2750 p.K917T 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 115 0 0 91 53 36.8056 CRMP1 0 genome.wustl.edu 37 4 5862925 5862925 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 5862925 5862925 C T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known silent c.483 p.E161 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 162 0 0 64 32 33.3333 C4orf50 0 genome.wustl.edu 37 4 5961154 5961154 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 5961154 5961154 C A SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.2201 p.S734I 0.025 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 173 0 0 87 27 23.6842 JAKMIP1 0 genome.wustl.edu 37 4 6066724 6066724 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 6066724 6066724 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1314 p.V438 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 147 0 0 81 22 21.3592 EPHA5 0 genome.wustl.edu 37 4 66230858 66230858 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 66230858 66230858 C A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2113 p.A705S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 126 0 0 101 39 27.8571 EPHA5 0 genome.wustl.edu 37 4 66286258 66286258 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 66286258 66286258 T C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1428 p.K476 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 48 0 0 42 21 33.3333 EPHA5 0 genome.wustl.edu 37 4 66467723 66467723 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 66467723 66467723 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.546 p.S182R 0.995 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 139 0 0 95 32 25.1969 UBA6 0 genome.wustl.edu 37 4 68497427 68497427 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 68497427 68497427 A C SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.2257 p.L753V 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 27 0 0 27 12 30.7692 TMPRSS11F 0 genome.wustl.edu 37 4 68930556 68930556 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 68930556 68930556 C A SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known nonsense c.862 p.E288* 0.003 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 48 0 0 41 19 31.6667 TMPRSS11F 0 genome.wustl.edu 37 4 68930577 68930577 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 68930577 68930577 G A SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.841 p.L281F 0.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 47 0 0 39 12 23.5294 YTHDC1 0 genome.wustl.edu 37 4 69198539 69198539 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 69198539 69198539 A G SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1000 p.S334P 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 68 0 0 35 19 35.1852 YTHDC1 0 genome.wustl.edu 37 4 69203598 69203598 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 69203598 69203598 G A SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known nonsense c.151 p.R51* 0.946 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 68 0 0 40 20 33.3333 UGT2B15 0 genome.wustl.edu 37 4 69513092 69513092 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 69513092 69513092 C A SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known missense c.1323 p.E441D 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 150 0 0 91 36 28.3465 UGT2B7 0 genome.wustl.edu 37 4 69962911 69962911 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 69962911 69962911 G A SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.673 p.E225K 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 88 0 0 69 19 21.5909 CCDC96 0 genome.wustl.edu 37 4 7043201 7043201 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 7043201 7043201 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.1465 p.R489W 0.991 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 283 1 0.352113 126 74 37 FDCSP 0 genome.wustl.edu 37 4 71096917 71096917 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71096917 71096917 G T SNP FDCSP ENST00000317987 human ensembl 74_37 +1 known missense c.6 p.K2N 0.014 NULL NULL - no_errors FDCSP HGNC ENSG00000181617 134 0 0 91 34 27.2 CABS1 0 genome.wustl.edu 37 4 71201477 71201477 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71201477 71201477 G A SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.721 p.E241K 0.081 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 99 0 0 59 27 31.3953 PROL1 0 genome.wustl.edu 37 4 71275761 71275761 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71275761 71275761 T G SNP PROL1 ENST00000399575 human ensembl 74_37 +1 putative missense c.716 p.F239C 0.001 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 97 0 0 33 36 52.1739 MUC7 0 genome.wustl.edu 37 4 71347004 71347004 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71347004 71347004 T G SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known silent c.543 p.S181 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 266 0 0 145 80 35.5556 AMTN 0 genome.wustl.edu 37 4 71389592 71389592 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71389592 71389592 C A SNP AMTN ENST00000339336 human ensembl 74_37 +1 known missense c.146 p.P49H 1.000 NULL NULL - no_errors AMTN HGNC ENSG00000187689 172 0 0 106 49 31.6129 ENAM 0 genome.wustl.edu 37 4 71497411 71497411 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71497411 71497411 C A SNP ENAM ENST00000396073 human ensembl 74_37 +1 known missense c.79 p.L27I 1.000 NULL NULL - no_errors ENAM HGNC ENSG00000132464 254 0 0 166 76 31.405 ENAM 0 genome.wustl.edu 37 4 71503462 71503462 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 71503462 71503462 C T SNP ENAM ENST00000472903 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ENAM HGNC ENSG00000132464 87 0 0 63 33 34.375 SLC4A4 0 genome.wustl.edu 37 4 72423482 72423482 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 72423482 72423482 C A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.2817 p.F939L 0.989 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 83 0 0 45 21 31.8182 SLC4A4 0 genome.wustl.edu 37 4 72429587 72429587 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 72429587 72429587 C T SNP SLC4A4 ENST00000264485 human ensembl 74_37 +1 known silent c.3177 p.S1059 0.989 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 126 0 0 66 43 39.4495 GC 0 genome.wustl.edu 37 4 72622523 72622523 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 72622523 72622523 A C SNP GC ENST00000273951 human ensembl 74_37 -1 known missense c.940 p.F314V 1.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 82 0 0 50 28 35.8974 NPFFR2 0 genome.wustl.edu 37 4 73013275 73013275 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 73013275 73013275 A G SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.1315 p.N439D 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 136 0 0 70 32 31.3725 COX18 0 genome.wustl.edu 37 4 73927616 73927616 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 73927616 73927616 C A SNP COX18 ENST00000295890 human ensembl 74_37 -1 known nonsense c.742 p.G248* 0.180 pfam_Membrane_insert_OXA1/ALB3/YidC pfam_Membrane_insert_OXA1/ALB3/YidC - no_errors COX18 HGNC ENSG00000163626 39 0 0 18 14 43.75 ANKRD17 0 genome.wustl.edu 37 4 73979536 73979536 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 73979536 73979536 A C SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.4374 p.I1458M 0.997 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 148 0 0 136 57 29.5337 ALB 0 genome.wustl.edu 37 4 74283258 74283258 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 74283258 74283258 C T SNP ALB ENST00000295897 human ensembl 74_37 +1 known missense c.1300 p.R434C 0.986 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB - no_errors ALB HGNC ENSG00000163631 86 0 0 51 28 35.443 ALB 0 genome.wustl.edu 37 4 74285345 74285345 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 74285345 74285345 T G SNP ALB ENST00000295897 human ensembl 74_37 +1 known missense c.1774 p.F592V 1.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB - no_errors ALB HGNC ENSG00000163631 131 0 0 89 44 33.0827 PSAPL1 0 genome.wustl.edu 37 4 7436430 7436430 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 7436430 7436430 C T SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known silent c.177 p.A59 0.002 pirsf_Saposin_chordata,prints_Saposin,pfscan_SapA pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 33 0 0 9 5 35.7143 RASSF6 0 genome.wustl.edu 37 4 74447980 74447980 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 74447980 74447980 A G SNP RASSF6 ENST00000342081 human ensembl 74_37 -1 known missense c.691 p.S231P 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 19 0 0 19 10 34.4828 RASSF6 0 genome.wustl.edu 37 4 74477513 74477513 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 74477513 74477513 C A SNP RASSF6 ENST00000342081 human ensembl 74_37 -1 known missense c.96 p.K32N 0.001 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 159 0 0 77 42 35.2941 RCHY1 0 genome.wustl.edu 37 4 76419368 76419368 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76419368 76419368 A C SNP RCHY1 ENST00000324439 human ensembl 74_37 -1 known missense c.348 p.F116L 1.000 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 30 0 0 24 10 29.4118 C4orf26 0 genome.wustl.edu 37 4 76489736 76489736 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76489736 76489736 G A SNP C4orf26 ENST00000435974 human ensembl 74_37 +1 putative missense c.524 p.R175Q 0.000 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 35 0 0 23 9 28.125 CDKL2 0 genome.wustl.edu 37 4 76521479 76521479 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76521479 76521479 C T SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known silent c.1368 p.P456 0.926 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL2 HGNC ENSG00000138769 79 0 0 56 23 29.1139 G3BP2 0 genome.wustl.edu 37 4 76570777 76570777 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76570777 76570777 C T SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known missense c.1286 p.R429H 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 129 0 0 88 31 26.0504 USO1 0 genome.wustl.edu 37 4 76715020 76715020 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76715020 76715020 C A SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.1424 p.S475Y 0.991 pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 84 0 0 57 21 26.9231 PPEF2 0 genome.wustl.edu 37 4 76805796 76805796 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76805796 76805796 C A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known nonsense c.697 p.E233* 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 250 0 0 139 76 35.3488 PPEF2 0 genome.wustl.edu 37 4 76811283 76811283 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 76811283 76811283 C T SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.244 p.D82N 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 112 0 0 60 27 31.0345 SORCS2 0 genome.wustl.edu 37 4 7705057 7705057 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 7705057 7705057 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.1719 p.I573 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 37 0 0 17 8 32 SORCS2 0 genome.wustl.edu 37 4 7706006 7706006 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 7706006 7706006 C A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.1863 p.V621 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 23 0 0 13 3 18.75 CCDC158 0 genome.wustl.edu 37 4 77252554 77252554 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 77252554 77252554 C T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.2873 p.S958N 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 143 0 0 95 39 29.1045 SHROOM3 0 genome.wustl.edu 37 4 77700059 77700059 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 77700059 77700059 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5720 p.G1907D 0.998 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 83 0 0 36 24 40 AFAP1 0 genome.wustl.edu 37 4 7857230 7857230 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 7857230 7857230 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.297 p.P99 0.363 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 109 1 0.909091 48 19 28.3582 FRAS1 0 genome.wustl.edu 37 4 79458157 79458157 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 79458157 79458157 C A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11101 p.L3701I 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 117 0 0 71 26 26.8041 PAQR3 0 genome.wustl.edu 37 4 79845039 79845039 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 79845039 79845039 A C SNP PAQR3 ENST00000511594 human ensembl 74_37 -1 known missense c.765 p.I255M 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 58 0 0 42 17 28.8136 GK2 0 genome.wustl.edu 37 4 80328097 80328097 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 80328097 80328097 G A SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.1258 p.R420C 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 169 0 0 82 41 33.3333 ANTXR2 0 genome.wustl.edu 37 4 80977160 80977160 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 80977160 80977160 T G SNP ANTXR2 ENST00000307333 human ensembl 74_37 -1 known missense c.304 p.I102L 0.999 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 9 0 0 3 8 72.7273 PRDM8 0 genome.wustl.edu 37 4 81124520 81124520 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 81124520 81124520 G A SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.1904 p.R635H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 35 0 0 16 15 48.3871 PRDM8 0 genome.wustl.edu 37 4 81124564 81124564 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 81124564 81124564 A C SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.1948 p.K650Q 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 29 0 0 17 13 43.3333 BMP3 0 genome.wustl.edu 37 4 81967324 81967324 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 81967324 81967324 C A SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.749 p.S250Y 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 198 0 0 82 48 36.9231 BMP3 0 genome.wustl.edu 37 4 81974618 81974618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 81974618 81974618 C A SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.1347 p.F449L 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 157 0 0 117 41 25.9494 SH3TC1 0 genome.wustl.edu 37 4 8214461 8214461 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 8214461 8214461 A C SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.281 p.K94T 0.237 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 56 0 0 17 15 46.875 RASGEF1B 0 genome.wustl.edu 37 4 82362046 82362046 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 82362046 82362046 C T SNP RASGEF1B ENST00000264400 human ensembl 74_37 -1 known missense c.1046 p.R349Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 234 0 0 140 59 29.6482 HTRA3 0 genome.wustl.edu 37 4 8305989 8305989 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 8305989 8305989 G A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known silent c.1179 p.P393 0.073 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 54 0 0 32 21 39.6226 ENSG00000227304 0 genome.wustl.edu 37 4 83416873 83416873 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83416873 83416873 T C SNP ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 15 0 0 7 6 46.1538 ENSG00000227304 0 genome.wustl.edu 37 4 83417367 83417367 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83417367 83417367 C A SNP ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 93 0 0 59 27 31.3953 TMEM150C 0 genome.wustl.edu 37 4 83425759 83425759 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83425759 83425759 A C SNP TMEM150C ENST00000449862 human ensembl 74_37 -1 known missense c.52 p.L18V 0.817 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150C HGNC ENSG00000249242 24 0 0 19 12 38.7097 SCD5 0 genome.wustl.edu 37 4 83602054 83602054 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83602054 83602054 G A SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known silent c.375 p.F125 0.796 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 120 1 0.826446 71 41 36.6071 SEC31A 0 genome.wustl.edu 37 4 83770112 83770112 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83770112 83770112 G A SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.2347 p.R783C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 166 0 0 109 12 9.91736 SEC31A 0 genome.wustl.edu 37 4 83787987 83787987 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83787987 83787987 G A SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known nonsense c.1171 p.R391* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 214 1 0.465116 126 57 31.1475 THAP9 0 genome.wustl.edu 37 4 83840004 83840004 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 83840004 83840004 A C SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.2639 p.K880T 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 114 0 0 66 51 43.5897 WDFY3 0 genome.wustl.edu 37 4 85605098 85605098 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 85605098 85605098 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.9724 p.R3242W 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 104 0 0 63 22 25.8824 WDFY3 0 genome.wustl.edu 37 4 85696261 85696261 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 85696261 85696261 G T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.4549 p.L1517I 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 56 0 0 34 36 51.4286 WDFY3 0 genome.wustl.edu 37 4 85731148 85731148 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 85731148 85731148 C A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.2237 p.R746I 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 197 0 0 105 52 33.121 GPR78 0 genome.wustl.edu 37 4 8583065 8583065 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 8583065 8583065 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known missense c.356 p.R119Q 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 30 0 0 8 8 50 GPR78 0 genome.wustl.edu 37 4 8589021 8589021 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 8589021 8589021 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known silent c.1023 p.P341 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 158 0 0 62 29 31.8681 MAPK10 0 genome.wustl.edu 37 4 87010469 87010469 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 87010469 87010469 G T SNP MAPK10 ENST00000489368 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors MAPK10 HGNC ENSG00000109339 16 0 0 7 7 50 MAPK10 0 genome.wustl.edu 37 4 87024399 87024399 + Splice_Site SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 87024399 87024399 T G SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known splice_site c.367-2 e4-2 1.000 - - - no_errors MAPK10 HGNC ENSG00000109339 71 0 0 40 18 31.0345 PTPN13 0 genome.wustl.edu 37 4 87622475 87622475 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 87622475 87622475 A C SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.716 p.K239T 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 19 0 0 20 13 39.3939 PTPN13 0 genome.wustl.edu 37 4 87637691 87637691 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 87637691 87637691 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.1204 p.R402* 0.922 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 11 0 0 5 6 54.5455 SLC10A6 0 genome.wustl.edu 37 4 87744921 87744921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 87744921 87744921 C T SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known missense c.1054 p.A352T 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 97 0 0 51 20 28.169 DSPP 0 genome.wustl.edu 37 4 88533280 88533280 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 88533280 88533280 G A SNP DSPP ENST00000282478 human ensembl 74_37 +1 known silent c.75 p.E25 0.972 NULL NULL - no_errors DSPP HGNC ENSG00000152591 57 0 0 30 15 33.3333 DSPP 0 genome.wustl.edu 37 4 88533818 88533818 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 88533818 88533818 G T SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.480 p.K160N 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 78 0 0 34 21 38.1818 IBSP 0 genome.wustl.edu 37 4 88732678 88732678 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 88732678 88732678 C T SNP IBSP ENST00000226284 human ensembl 74_37 +1 known silent c.570 p.N190 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 62 0 0 35 23 39.6552 MEPE 0 genome.wustl.edu 37 4 88767192 88767192 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 88767192 88767192 C T SNP MEPE ENST00000361056 human ensembl 74_37 +1 known missense c.1172 p.A391V 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 84 0 0 52 14 21.2121 PPM1K 0 genome.wustl.edu 37 4 89198321 89198321 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89198321 89198321 G A SNP PPM1K ENST00000608933 human ensembl 74_37 -1 known missense c.515 p.S172L 0.029 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 82 0 0 43 32 42.6667 HERC6 0 genome.wustl.edu 37 4 89311819 89311819 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89311819 89311819 C T SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.452 p.S151L 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 56 0 0 17 17 50 HERC5 0 genome.wustl.edu 37 4 89380566 89380566 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89380566 89380566 C A SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.334 p.L112I 0.159 superfamily_RCC1/BLIP-II pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 122 0 0 87 38 30.4 HERC5 0 genome.wustl.edu 37 4 89390312 89390312 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89390312 89390312 C A SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known nonsense c.1139 p.S380* 0.990 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 54 0 0 29 8 21.6216 HERC3 0 genome.wustl.edu 37 4 89442674 89442674 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89442674 89442674 C T SNP HERC3 ENST00000601319 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HERC3 HGNC ENSG00000138641 25 0 0 10 4 28.5714 FAM13A 0 genome.wustl.edu 37 4 89658668 89658668 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89658668 89658668 C G SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known missense c.2601 p.Q867H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 103 1 0.961538 54 28 34.1463 FAM13A 0 genome.wustl.edu 37 4 89709072 89709072 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 89709072 89709072 C A SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known missense c.1103 p.R368I 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 56 0 0 43 20 31.746 MMRN1 0 genome.wustl.edu 37 4 90856259 90856259 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 90856259 90856259 G A SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known silent c.1428 p.K476 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 111 0 0 58 45 43.6893 MMRN1 0 genome.wustl.edu 37 4 90856603 90856603 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 90856603 90856603 A G SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.1772 p.E591G 0.156 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 84 0 0 54 27 33.3333 MMRN1 0 genome.wustl.edu 37 4 90856704 90856704 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 90856704 90856704 C A SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.1873 p.L625I 0.050 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 120 0 0 101 42 29.3706 CCSER1 0 genome.wustl.edu 37 4 91230341 91230341 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 91230341 91230341 T G SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known silent c.906 p.A302 0.995 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 251 0 0 148 66 30.8411 GRID2 0 genome.wustl.edu 37 4 94411866 94411866 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 94411866 94411866 C A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.1935 p.I645 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt 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 140 0 0 73 45 38.1356 SMARCAD1 0 genome.wustl.edu 37 4 95191964 95191964 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 95191964 95191964 G T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known nonsense c.1567 p.E523* 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 96 0 0 65 27 29.3478 RAP1GDS1 0 genome.wustl.edu 37 4 99313106 99313106 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 99313106 99313106 C T SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known missense c.515 p.S172L 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 33 0 0 28 6 17.6471 TSPAN5 0 genome.wustl.edu 37 4 99399882 99399882 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 99399882 99399882 C T SNP TSPAN5 ENST00000305798 human ensembl 74_37 -1 known missense c.530 p.R177Q 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 115 0 0 63 32 33.6842 ADH5 0 genome.wustl.edu 37 4 99993587 99993587 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 99993587 99993587 C T SNP ADH5 ENST00000296412 human ensembl 74_37 -1 known missense c.1106 p.R369Q 1.000 superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 34 0 0 23 10 30.303 SLCO4C1 0 genome.wustl.edu 37 5 101592925 101592925 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 101592925 101592925 T C SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1363 p.K455E 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 64 0 0 38 13 25.4902 SLCO6A1 0 genome.wustl.edu 37 5 101735385 101735385 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 101735385 101735385 A C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1688 p.F563C 0.669 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 82 0 0 62 29 31.8681 SLCO6A1 0 genome.wustl.edu 37 5 101795417 101795417 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 101795417 101795417 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.964 p.A322T 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 113 0 0 62 25 28.7356 NUDT12 0 genome.wustl.edu 37 5 102895125 102895125 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 102895125 102895125 T C SNP NUDT12 ENST00000230792 human ensembl 74_37 -1 known missense c.251 p.D84G 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 83 0 0 56 36 39.1304 FBXL17 0 genome.wustl.edu 37 5 107216831 107216831 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 107216831 107216831 G A SNP FBXL17 ENST00000542267 human ensembl 74_37 -1 known silent c.1872 p.V624 0.220 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL17 HGNC ENSG00000145743 120 0 0 84 44 34.375 FER 0 genome.wustl.edu 37 5 108203635 108203635 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 108203635 108203635 G T SNP FER ENST00000281092 human ensembl 74_37 +1 known nonsense c.649 p.E217* 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 54 0 0 43 17 28.3333 MAN2A1 0 genome.wustl.edu 37 5 109155379 109155379 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 109155379 109155379 C T SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known nonsense c.2119 p.R707* 0.986 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 98 0 0 71 33 31.7308 MAN2A1 0 genome.wustl.edu 37 5 109183456 109183456 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 109183456 109183456 C T SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known nonsense c.2941 p.R981* 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 34 0 0 39 24 38.0952 WDR36 0 genome.wustl.edu 37 5 110445966 110445966 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 110445966 110445966 T C SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.1573 p.S525P 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 122 0 0 131 17 11.4865 CTNND2 0 genome.wustl.edu 37 5 11082831 11082831 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 11082831 11082831 T C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2765 p.D922G 1.000 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 152 0 0 79 30 27.5229 EPB41L4A 0 genome.wustl.edu 37 5 111754705 111754705 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 111754705 111754705 A C SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.32 p.F11C 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 81 0 0 34 28 45.1613 APC 0 genome.wustl.edu 37 5 112151261 112151261 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112151261 112151261 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.904 p.R302* 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 96 0 0 47 18 27.6923 APC 0 genome.wustl.edu 37 5 112173621 112173621 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112173621 112173621 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.2330 p.D777G 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 115 0 0 68 43 38.7387 APC 0 genome.wustl.edu 37 5 112174393 112174393 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112174393 112174393 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.3102 p.E1034 0.997 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 100 0 0 51 36 41.3793 APC 0 genome.wustl.edu 37 5 112174916 112174916 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112174916 112174916 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.3625 p.E1209* 0.270 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 116 0 0 71 50 41.3223 APC 0 genome.wustl.edu 37 5 112175639 112175639 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112175639 112175639 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.4348 p.R1450* 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 120 0 0 58 31 34.8315 APC 0 genome.wustl.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112177901 112177901 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.6610 p.R2204* 0.999 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 123 0 0 72 34 32.0755 REEP5 0 genome.wustl.edu 37 5 112222851 112222851 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112222851 112222851 C T SNP REEP5 ENST00000504247 human ensembl 74_37 -1 putative missense c.242 p.R81Q 0.513 NULL NULL - no_errors REEP5 HGNC ENSG00000129625 70 0 0 42 13 23.6364 DCP2 0 genome.wustl.edu 37 5 112321534 112321534 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112321534 112321534 G A SNP DCP2 ENST00000389063 human ensembl 74_37 +1 known missense c.56 p.R19Q 1.000 pfam_mRNA_decapping_BoxA pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 125 0 0 78 37 32.1739 TSSK1B 0 genome.wustl.edu 37 5 112770308 112770308 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112770308 112770308 C T SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.229 p.E77K 0.981 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 84 0 0 41 17 29.3103 YTHDC2 0 genome.wustl.edu 37 5 112862484 112862484 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112862484 112862484 T C SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known splice_site c.675+2 e4+2 1.000 - - - no_errors YTHDC2 HGNC ENSG00000047188 50 0 0 33 19 36.5385 YTHDC2 0 genome.wustl.edu 37 5 112896785 112896785 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 112896785 112896785 G A SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.2225 p.R742Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 41 0 0 22 17 43.5897 AQPEP 0 genome.wustl.edu 37 5 115298524 115298524 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 115298524 115298524 G A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known silent c.210 p.P70 0.001 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 82 0 0 42 14 25 DMXL1 0 genome.wustl.edu 37 5 118485264 118485264 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 118485264 118485264 G T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known nonsense c.3742 p.E1248* 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 142 0 0 92 53 36.5517 DMXL1 0 genome.wustl.edu 37 5 118503325 118503325 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 118503325 118503325 C A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.5164 p.Q1722K 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 16 0 0 19 7 26.9231 DMXL1 0 genome.wustl.edu 37 5 118582939 118582939 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 118582939 118582939 T G SNP DMXL1 ENST00000505312 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DMXL1 HGNC ENSG00000172869 31 0 0 14 18 56.25 HSD17B4 0 genome.wustl.edu 37 5 118861613 118861613 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 118861613 118861613 T C SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known silent c.1575 p.G525 0.997 pfam_MaoC_dom pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 103 0 0 56 25 30.8642 FAM170A 0 genome.wustl.edu 37 5 118969821 118969821 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 118969821 118969821 G T SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.378 p.M126I 1.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 101 0 0 60 28 31.8182 PRR16 0 genome.wustl.edu 37 5 119800232 119800232 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 119800232 119800232 A G SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.51 p.G17 0.967 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 18 0 0 9 5 35.7143 PRR16 0 genome.wustl.edu 37 5 119800268 119800268 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 119800268 119800268 G T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.87 p.Q29H 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 18 0 0 5 6 54.5455 SNCAIP 0 genome.wustl.edu 37 5 121759111 121759111 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 121759111 121759111 G A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.820 p.D274N 0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 159 0 0 79 41 34.1667 SNX2 0 genome.wustl.edu 37 5 122137575 122137575 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 122137575 122137575 A C SNP SNX2 ENST00000379516 human ensembl 74_37 +1 known missense c.402 p.E134D 1.000 pfam_Sorting_nexin_N pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX2 HGNC ENSG00000205302 56 0 0 67 27 28.7234 CEP120 0 genome.wustl.edu 37 5 122724294 122724294 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 122724294 122724294 G T SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.1262 p.S421Y 0.003 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 144 0 0 82 51 38.3459 CEP120 0 genome.wustl.edu 37 5 122729052 122729052 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 122729052 122729052 C T SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.752 p.R251H 1.000 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 109 0 0 75 31 29.2453 ZNF608 0 genome.wustl.edu 37 5 124080003 124080003 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 124080003 124080003 C T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.680 p.S227N 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 158 0 0 78 33 29.7297 GRAMD3 0 genome.wustl.edu 37 5 125819236 125819236 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 125819236 125819236 T G SNP GRAMD3 ENST00000542322 human ensembl 74_37 +1 known missense c.841 p.S281A 0.988 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 69 0 0 53 29 35.3659 MEGF10 0 genome.wustl.edu 37 5 126791103 126791103 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 126791103 126791103 G T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.3036 p.K1012N 1.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 204 0 0 145 64 30.622 TERT 0 genome.wustl.edu 37 5 1272354 1272354 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 1272354 1272354 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.2328 p.F776 0.640 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 44 0 0 17 8 32 FBN2 0 genome.wustl.edu 37 5 127615904 127615904 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 127615904 127615904 G T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7118 p.S2373Y 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 80 0 0 46 21 31.3433 FBN2 0 genome.wustl.edu 37 5 127641543 127641543 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 127641543 127641543 A C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.5520 p.S1840R 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 142 0 0 89 56 38.6207 FBN2 0 genome.wustl.edu 37 5 127648405 127648405 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 127648405 127648405 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.4800 p.G1600 0.995 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 492 2 0.404858 285 144 33.5664 FBN2 0 genome.wustl.edu 37 5 127782261 127782261 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 127782261 127782261 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known nonsense c.865 p.G289* 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 119 0 0 87 37 29.8387 SLC27A6 0 genome.wustl.edu 37 5 128302039 128302039 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 128302039 128302039 A C SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.209 p.K70T 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 140 0 0 62 39 38.6139 SLC27A6 0 genome.wustl.edu 37 5 128362977 128362977 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 128362977 128362977 T G SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.1407 p.D469E 0.001 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 159 0 0 115 62 35.0282 TERT 0 genome.wustl.edu 37 5 1294533 1294533 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 1294533 1294533 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.468 p.C156 0.834 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 18 0 0 9 7 43.75 CHSY3 0 genome.wustl.edu 37 5 129520286 129520286 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 129520286 129520286 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.1451 p.R484Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 72 0 0 47 21 30.8824 RAPGEF6 0 genome.wustl.edu 37 5 130940376 130940376 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 130940376 130940376 G T SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.80 p.T27N 1.000 superfamily_cNMP-bd-like pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,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 RAPGEF6 HGNC ENSG00000158987 37 0 0 28 14 33.3333 ACSL6 0 genome.wustl.edu 37 5 131298258 131298258 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 131298258 131298258 C T SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known silent c.1827 p.A609 0.040 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 89 0 0 60 28 31.8182 ACSL6 0 genome.wustl.edu 37 5 131321104 131321104 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 131321104 131321104 C T SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known silent c.912 p.T304 0.058 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 63 0 0 25 12 32.4324 IRF1 0 genome.wustl.edu 37 5 131822766 131822766 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 131822766 131822766 G A SNP IRF1 ENST00000245414 human ensembl 74_37 -1 known missense c.244 p.R82C 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 654 0 0 293 139 32.1759 IL4 0 genome.wustl.edu 37 5 132009824 132009824 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 132009824 132009824 G A SNP IL4 ENST00000231449 human ensembl 74_37 +1 known missense c.82 p.D28N 0.000 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4,prints_IL-4 - no_errors IL4 HGNC ENSG00000113520 205 1 0.485437 92 58 38.6667 KIF3A 0 genome.wustl.edu 37 5 132034929 132034929 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 132034929 132034929 T G SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.1994 p.Q665P 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 240 0 0 135 78 36.6197 AFF4 0 genome.wustl.edu 37 5 132216807 132216807 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 132216807 132216807 G A SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.3436 p.R1146C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 80 0 0 46 27 36.9863 CLPTM1L 0 genome.wustl.edu 37 5 1334416 1334416 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 1334416 1334416 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known silent c.879 p.V293 0.169 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 71 0 0 35 14 28.5714 PHF15 0 genome.wustl.edu 37 5 133871564 133871564 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 133871564 133871564 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.17 p.R6Q 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 79 0 0 42 20 32.2581 PHF15 0 genome.wustl.edu 37 5 133909341 133909341 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 133909341 133909341 A C SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.1441 p.N481H 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 78 0 0 66 14 17.5 SAR1B 0 genome.wustl.edu 37 5 133944178 133944178 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 133944178 133944178 C A SNP SAR1B ENST00000402673 human ensembl 74_37 -1 known nonsense c.364 p.E122* 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1B HGNC ENSG00000152700 41 0 0 32 10 23.8095 CAMLG 0 genome.wustl.edu 37 5 134086512 134086512 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 134086512 134086512 G A SNP CAMLG ENST00000297156 human ensembl 74_37 +1 known missense c.763 p.E255K 1.000 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC ENSG00000164615 95 0 0 51 20 28.169 C5orf24 0 genome.wustl.edu 37 5 134190891 134190891 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 134190891 134190891 G A SNP C5orf24 ENST00000338051 human ensembl 74_37 +1 known missense c.301 p.G101R 1.000 NULL NULL - no_errors C5orf24 HGNC ENSG00000181904 160 0 0 92 43 31.8519 TRPC7 0 genome.wustl.edu 37 5 135567128 135567128 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 135567128 135567128 G T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.1954 p.L652I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 33 0 0 16 8 33.3333 TRPC7 0 genome.wustl.edu 37 5 135693035 135693035 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 135693035 135693035 T C SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.41 p.H14R 1.000 prints_TRPC7_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 115 0 0 49 24 32.8767 DNAH5 0 genome.wustl.edu 37 5 13708403 13708403 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13708403 13708403 C A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.13167 p.M4389I 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 149 0 0 85 51 37.5 MYOT 0 genome.wustl.edu 37 5 137206353 137206353 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137206353 137206353 G A SNP MYOT ENST00000239926 human ensembl 74_37 +1 known missense c.13 p.E5K 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOT HGNC ENSG00000120729 266 0 0 146 80 35.3982 MYOT 0 genome.wustl.edu 37 5 137217750 137217750 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137217750 137217750 A C SNP MYOT ENST00000239926 human ensembl 74_37 +1 known missense c.772 p.N258H 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOT HGNC ENSG00000120729 122 0 0 77 36 31.8584 PKD2L2 0 genome.wustl.edu 37 5 137241990 137241990 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137241990 137241990 T C SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known missense c.842 p.F281S 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 98 0 0 68 45 39.823 PKD2L2 0 genome.wustl.edu 37 5 137242046 137242046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137242046 137242046 G A SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known missense c.898 p.E300K 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 67 0 0 60 24 28.5714 FAM13B 0 genome.wustl.edu 37 5 137284799 137284799 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137284799 137284799 A C SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1939 p.F647V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 136 0 0 80 39 32.7731 KIF20A 0 genome.wustl.edu 37 5 137518869 137518869 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137518869 137518869 C T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known nonsense c.844 p.R282* 0.002 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 119 0 0 66 32 32.6531 DNAH5 0 genome.wustl.edu 37 5 13753355 13753355 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13753355 13753355 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10859 p.R3620Q 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 73 0 0 23 36 61.0169 GFRA3 0 genome.wustl.edu 37 5 137589038 137589038 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137589038 137589038 A C SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.1051 p.F351V 0.341 prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 13 0 0 13 3 18.75 CDC25C 0 genome.wustl.edu 37 5 137627783 137627783 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137627783 137627783 C T SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 218 0 0 95 45 32.1429 DNAH5 0 genome.wustl.edu 37 5 13762932 13762932 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13762932 13762932 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10180 p.E3394K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 82 0 0 60 22 26.8293 DNAH5 0 genome.wustl.edu 37 5 13769652 13769652 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13769652 13769652 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.9678 p.A3226 0.280 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 187 0 0 122 56 31.4607 DNAH5 0 genome.wustl.edu 37 5 13769697 13769697 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13769697 13769697 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9633 p.K3211N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 176 0 0 109 52 32.2981 KDM3B 0 genome.wustl.edu 37 5 137715275 137715275 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137715275 137715275 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.583 p.P195S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 107 0 0 48 27 36 KDM3B 0 genome.wustl.edu 37 5 137771343 137771343 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137771343 137771343 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.5240 p.A1747V 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 38 0 0 19 6 24 ETF1 0 genome.wustl.edu 37 5 137844015 137844015 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137844015 137844015 A C SNP ETF1 ENST00000360541 human ensembl 74_37 -1 known missense c.1293 p.F431L 1.000 NULL pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 52 0 0 28 9 24.3243 HSPA9 0 genome.wustl.edu 37 5 137892159 137892159 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 137892159 137892159 G A SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known silent c.1944 p.F648 0.580 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 297 0 0 165 77 31.8182 DNAH5 0 genome.wustl.edu 37 5 13811916 13811916 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13811916 13811916 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7247 p.R2416H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 82 0 0 57 20 25.974 CTNNA1 0 genome.wustl.edu 37 5 138160307 138160307 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 138160307 138160307 A G SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.677 p.Q226R 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 90 0 0 48 20 29.4118 CTNNA1 0 genome.wustl.edu 37 5 138160426 138160426 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 138160426 138160426 G A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.796 p.D266N 0.998 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 180 0 0 100 52 34.2105 LRRTM2 0 genome.wustl.edu 37 5 138208713 138208713 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 138208713 138208713 C A SNP LRRTM2 ENST00000274711 human ensembl 74_37 -1 known nonsense c.1537 p.E513* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 185 0 0 110 59 34.9112 SIL1 0 genome.wustl.edu 37 5 138386648 138386648 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 138386648 138386648 C T SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known missense c.332 p.R111Q 0.008 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 144 0 0 90 40 30.7692 DNAH5 0 genome.wustl.edu 37 5 13850896 13850896 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13850896 13850896 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.4979 p.K1660T 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 172 0 0 86 41 32.2835 DNAH5 0 genome.wustl.edu 37 5 13865867 13865867 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13865867 13865867 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.4265 p.V1422A 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 58 0 0 36 21 36.8421 SLC23A1 0 genome.wustl.edu 37 5 138715727 138715727 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 138715727 138715727 C T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.698 p.R233H 0.998 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 38 0 0 22 6 21.4286 DNAH5 0 genome.wustl.edu 37 5 13914039 13914039 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13914039 13914039 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.1349 p.K450T 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 36 0 0 37 13 26 PSD2 0 genome.wustl.edu 37 5 139216473 139216473 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 139216473 139216473 G A SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.1481 p.R494Q 1.000 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 208 0 0 99 39 28.2609 PSD2 0 genome.wustl.edu 37 5 139217339 139217339 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 139217339 139217339 G A SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.1795 p.D599N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 84 0 0 38 14 26.9231 NRG2 0 genome.wustl.edu 37 5 139231256 139231256 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 139231256 139231256 G A SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.1711 p.R571C 0.176 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 123 0 0 57 24 29.6296 DNAH5 0 genome.wustl.edu 37 5 13923469 13923469 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 13923469 13923469 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.358 p.D120N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 228 0 0 157 64 28.9593 TMCO6 0 genome.wustl.edu 37 5 140022539 140022539 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140022539 140022539 A G SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known missense c.737 p.H246R 0.995 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 137 0 0 56 19 25.3333 TMCO6 0 genome.wustl.edu 37 5 140023501 140023501 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140023501 140023501 A G SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known missense c.1073 p.K358R 0.061 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 147 0 0 72 20 21.7391 WDR55 0 genome.wustl.edu 37 5 140047890 140047890 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140047890 140047890 G A SNP WDR55 ENST00000358337 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 164 0 0 80 42 34.4262 HARS2 0 genome.wustl.edu 37 5 140077629 140077629 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140077629 140077629 T C SNP HARS2 ENST00000230771 human ensembl 74_37 +1 known missense c.1427 p.V476A 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC ENSG00000112855 79 0 0 50 31 38.2716 PCDHA1 0 genome.wustl.edu 37 5 140166397 140166397 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140166397 140166397 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.522 p.P174 0.087 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 PCDHA1 HGNC ENSG00000204970 148 0 0 95 12 11.215 PCDHA2 0 genome.wustl.edu 37 5 140174848 140174848 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140174848 140174848 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.299 p.A100V 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 309 0 0 194 92 32.1678 PCDHA3 0 genome.wustl.edu 37 5 140183184 140183184 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140183184 140183184 A C SNP PCDHA3 ENST00000532566 human ensembl 74_37 +1 known missense c.2402 p.N801T 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 72 0 0 44 15 25.4237 PCDHA4 0 genome.wustl.edu 37 5 140187116 140187116 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140187116 140187116 A C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.344 p.Q115P 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 218 0 0 115 89 43.6275 PCDHA4 0 genome.wustl.edu 37 5 140187186 140187186 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140187186 140187186 G T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.414 p.K138N 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 197 0 0 115 47 29.0123 PCDHA6 0 genome.wustl.edu 37 5 140208802 140208802 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140208802 140208802 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1126 p.D376N 0.965 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 PCDHA6 HGNC ENSG00000081842 268 0 0 168 59 25.9912 PCDHA7 0 genome.wustl.edu 37 5 140214350 140214350 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140214350 140214350 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.382 p.D128N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 266 0 0 124 81 39.5122 PCDHA8 0 genome.wustl.edu 37 5 140221499 140221499 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140221499 140221499 A C SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.593 p.K198T 0.911 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 PCDHA8 HGNC ENSG00000204962 119 0 0 99 9 8.33333 PCDHA9 0 genome.wustl.edu 37 5 140228097 140228097 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140228097 140228097 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.17 p.R6Q 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 233 0 0 111 73 39.6739 PCDHA11 0 genome.wustl.edu 37 5 140249484 140249484 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140249484 140249484 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.796 p.A266T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 25 0 0 15 7 31.8182 PCDHA12 0 genome.wustl.edu 37 5 140255526 140255526 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140255526 140255526 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.469 p.A157T 1.000 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 PCDHA12 HGNC ENSG00000251664 163 0 0 70 52 42.623 PCDHAC1 0 genome.wustl.edu 37 5 140307492 140307492 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140307492 140307492 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.1015 p.E339K 0.997 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 240 0 0 130 73 35.9606 PCDHAC1 0 genome.wustl.edu 37 5 140307515 140307515 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140307515 140307515 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.1038 p.S346 0.006 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 214 0 0 122 47 27.8107 PCDHAC1 0 genome.wustl.edu 37 5 140308872 140308872 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140308872 140308872 C T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.2395 p.R799W 0.614 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 204 0 0 114 55 32.5444 PCDHB1 0 genome.wustl.edu 37 5 140431993 140431993 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140431993 140431993 A C SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.938 p.E313A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 122 0 0 77 52 40.3101 PCDHB1 0 genome.wustl.edu 37 5 140432001 140432001 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140432001 140432001 G A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.946 p.D316N 0.991 pfam_Cadherin,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 PCDHB1 HGNC ENSG00000171815 126 0 0 83 57 40.7143 PCDHB1 0 genome.wustl.edu 37 5 140432773 140432773 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140432773 140432773 G A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.1718 p.C573Y 0.989 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 141 0 0 65 23 26.1364 PCDHB1 0 genome.wustl.edu 37 5 140432871 140432871 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140432871 140432871 C A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.1816 p.H606N 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 115 0 0 51 28 35.443 PCDHB1 0 genome.wustl.edu 37 5 140432958 140432958 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140432958 140432958 G T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.1903 p.D635Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 204 0 0 108 51 32.0755 PCDHB3 0 genome.wustl.edu 37 5 140481185 140481185 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140481185 140481185 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.952 p.D318N 0.000 pfam_Cadherin,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 PCDHB3 HGNC ENSG00000113205 84 0 0 58 37 38.9474 PCDHB3 0 genome.wustl.edu 37 5 140482283 140482283 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140482283 140482283 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.2050 p.D684N 0.244 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 349 1 0.285714 174 79 31.2253 PCDHB4 0 genome.wustl.edu 37 5 140502262 140502262 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140502262 140502262 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known nonsense c.682 p.R228* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 161 0 0 92 63 40.6452 PCDHB5 0 genome.wustl.edu 37 5 140515899 140515899 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140515899 140515899 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.883 p.E295K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 234 0 0 135 64 32.1608 PCDHB6 0 genome.wustl.edu 37 5 140529924 140529924 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140529924 140529924 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.86 p.S29L 0.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 146 0 0 96 36 27.2727 PCDHB6 0 genome.wustl.edu 37 5 140530736 140530736 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140530736 140530736 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.898 p.R300W 0.428 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 127 0 0 89 43 32.5758 PCDHB7 0 genome.wustl.edu 37 5 140552652 140552652 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140552652 140552652 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.236 p.S79L 0.003 pfam_Cadherin_N,superfamily_Cadherin-like,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 126 0 0 65 33 33.6735 PCDHB7 0 genome.wustl.edu 37 5 140553101 140553101 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140553101 140553101 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.685 p.R229C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 119 0 0 71 33 31.7308 PCDHB7 0 genome.wustl.edu 37 5 140553637 140553637 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140553637 140553637 A C SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1221 p.K407N 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 129 0 0 61 41 40.1961 PCDHB8 0 genome.wustl.edu 37 5 140557991 140557991 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140557991 140557991 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.376 p.D126N 1.000 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 77 0 0 35 13 27.0833 PCDHB8 0 genome.wustl.edu 37 5 140558153 140558153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140558153 140558153 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.538 p.R180W 0.020 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 181 0 0 110 35 24.1379 PCDHB8 0 genome.wustl.edu 37 5 140559338 140559338 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140559338 140559338 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1723 p.E575K 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 144 0 0 89 21 19.0909 PCDHB8 0 genome.wustl.edu 37 5 140559922 140559922 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140559922 140559922 A G SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.2307 p.K769 0.887 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 155 1 0.641026 92 34 26.9841 PCDHB10 0 genome.wustl.edu 37 5 140573028 140573028 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140573028 140573028 C A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.903 p.I301 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 101 0 0 72 39 35.1351 PCDHB11 0 genome.wustl.edu 37 5 140579519 140579519 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140579519 140579519 G T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known nonsense c.172 p.E58* 0.019 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 106 0 0 68 37 35.2381 PCDHB11 0 genome.wustl.edu 37 5 140579834 140579834 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140579834 140579834 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.487 p.G163R 0.988 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 PCDHB11 HGNC ENSG00000197479 184 0 0 102 44 30.137 PCDHB11 0 genome.wustl.edu 37 5 140581471 140581471 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140581471 140581471 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.2124 p.F708 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 416 0 0 186 68 26.7717 PCDHB13 0 genome.wustl.edu 37 5 140594772 140594772 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140594772 140594772 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1077 p.E359 0.037 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 372 0 0 188 101 34.9481 PCDHB14 0 genome.wustl.edu 37 5 140605445 140605445 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140605445 140605445 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known nonsense c.2368 p.R790* 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 108 0 0 67 34 33.6634 PCDHB18 0 genome.wustl.edu 37 5 140615714 140615714 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140615714 140615714 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 205 0 0 134 78 36.7925 PCDHB15 0 genome.wustl.edu 37 5 140625165 140625165 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140625165 140625165 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.19 p.R7C 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 89 0 0 45 20 30.7692 PCDHB15 0 genome.wustl.edu 37 5 140625274 140625274 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140625274 140625274 C A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.128 p.S43Y 0.935 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 111 0 0 71 26 26.8041 PCDHB15 0 genome.wustl.edu 37 5 140625481 140625481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140625481 140625481 A C SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.335 p.K112T 0.966 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 185 1 0.537634 88 53 37.5887 PCDHB15 0 genome.wustl.edu 37 5 140627444 140627444 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140627444 140627444 C A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.2298 p.F766L 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 183 0 0 92 70 43.2099 SLC25A2 0 genome.wustl.edu 37 5 140682859 140682859 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140682859 140682859 C A SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known nonsense c.574 p.E192* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 157 0 0 85 42 33.0709 PCDHGA1 0 genome.wustl.edu 37 5 140710513 140710513 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140710513 140710513 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.262 p.R88C 0.956 pfam_Cadherin_N,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 PCDHGA1 HGNC ENSG00000204956 299 0 0 173 84 32.6848 PCDHGA1 0 genome.wustl.edu 37 5 140711198 140711198 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140711198 140711198 C A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known nonsense c.947 p.S316* 1.000 pfam_Cadherin,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 PCDHGA1 HGNC ENSG00000204956 97 0 0 66 37 35.9223 PCDHGA1 0 genome.wustl.edu 37 5 140712719 140712719 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140712719 140712719 C A SNP PCDHGA1 ENST00000378105 human ensembl 74_37 +1 known missense c.2468 p.S823Y 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 69 0 0 24 23 48.9362 PCDHGB1 0 genome.wustl.edu 37 5 140730274 140730274 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140730274 140730274 C A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.447 p.F149L 0.010 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 248 0 0 137 71 34.1346 PCDHGB1 0 genome.wustl.edu 37 5 140730670 140730670 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140730670 140730670 C A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known silent c.843 p.S281 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 199 0 0 106 33 23.741 PCDHGB1 0 genome.wustl.edu 37 5 140731944 140731944 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140731944 140731944 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.2117 p.A706V 0.016 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 264 0 0 150 83 35.6223 PCDHGA4 0 genome.wustl.edu 37 5 140734861 140734861 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140734861 140734861 C A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.94 p.L32I 1.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 142 0 0 72 30 29.4118 PCDHGB2 0 genome.wustl.edu 37 5 140740020 140740020 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140740020 140740020 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.318 p.F106 0.908 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 192 1 0.518135 106 47 30.719 PCDHGB3 0 genome.wustl.edu 37 5 140750426 140750426 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140750426 140750426 A G SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known silent c.465 p.E155 0.109 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 334 0 0 174 79 31.2253 PCDHGB3 0 genome.wustl.edu 37 5 140751953 140751953 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140751953 140751953 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known silent c.1992 p.F664 0.953 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 167 0 0 77 37 32.4561 PCDHGB3 0 genome.wustl.edu 37 5 140752194 140752194 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140752194 140752194 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.2233 p.E745K 0.010 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 99 0 0 56 37 39.7849 PCDHGA7 0 genome.wustl.edu 37 5 140764273 140764273 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140764273 140764273 T G SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1807 p.W603G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 186 0 0 107 32 23.0216 PCDHGA7 0 genome.wustl.edu 37 5 140764319 140764319 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140764319 140764319 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1853 p.A618V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 164 0 0 83 18 17.8218 PCDHGB4 0 genome.wustl.edu 37 5 140769585 140769585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140769585 140769585 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.2134 p.R712C 0.086 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 339 0 0 176 87 33.0798 PCDHGB4 0 genome.wustl.edu 37 5 140769650 140769650 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140769650 140769650 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.2199 p.S733 0.806 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 350 0 0 196 106 35.0993 PCDHGA8 0 genome.wustl.edu 37 5 140772850 140772850 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140772850 140772850 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.470 p.A157V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 136 0 0 81 32 28.3186 PCDHGA8 0 genome.wustl.edu 37 5 140773459 140773459 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140773459 140773459 C A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1079 p.S360Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 121 0 0 62 36 36.7347 PCDHGB6 0 genome.wustl.edu 37 5 140788389 140788389 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140788389 140788389 C A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.620 p.S207Y 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 40 0 0 19 9 32.1429 PCDHGB6 0 genome.wustl.edu 37 5 140788952 140788952 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140788952 140788952 T C SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1183 p.Y395H 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 59 0 0 50 23 31.5068 PCDHGB6 0 genome.wustl.edu 37 5 140789915 140789915 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140789915 140789915 C T SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known nonsense c.2146 p.R716* 0.080 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 223 0 0 103 51 33.1169 PCDHGA10 0 genome.wustl.edu 37 5 140793736 140793736 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140793736 140793736 C A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.994 p.L332I 0.000 pfam_Cadherin,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 PCDHGA10 HGNC ENSG00000253846 20 0 0 16 4 20 PCDHGA10 0 genome.wustl.edu 37 5 140794687 140794687 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140794687 140794687 G T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.1945 p.A649S 0.030 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 205 0 0 101 50 33.1126 PCDHGA11 0 genome.wustl.edu 37 5 140801986 140801986 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140801986 140801986 A G SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1192 p.T398A 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 67 0 0 43 22 33.8462 PCDHGA11 0 genome.wustl.edu 37 5 140802023 140802023 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140802023 140802023 T C SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1229 p.V410A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 145 0 0 77 35 31.25 PCDHGA11 0 genome.wustl.edu 37 5 140802987 140802987 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140802987 140802987 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.2193 p.G731 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 127 1 0.78125 59 18 23.3766 PCDHGB8P 0 genome.wustl.edu 37 5 140807610 140807610 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140807610 140807610 A G SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 107 0 0 51 19 27.1429 PCDHGA12 0 genome.wustl.edu 37 5 140811030 140811030 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140811030 140811030 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.704 p.A235V 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 161 0 0 70 36 33.9623 PCDHGA12 0 genome.wustl.edu 37 5 140811351 140811351 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140811351 140811351 A G SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1025 p.D342G 1.000 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 PCDHGA12 HGNC ENSG00000253159 165 0 0 71 42 37.1681 PCDHGA12 0 genome.wustl.edu 37 5 140812460 140812460 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140812460 140812460 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.2134 p.L712 0.992 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 260 0 0 114 70 38.0435 PCDHGC4 0 genome.wustl.edu 37 5 140865298 140865298 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140865298 140865298 C T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known silent c.558 p.S186 0.978 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 125 0 0 62 30 32.6087 PCDHGC4 0 genome.wustl.edu 37 5 140866394 140866394 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140866394 140866394 C T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.1654 p.R552C 0.884 pfam_Cadherin,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 PCDHGC4 HGNC ENSG00000242419 225 0 0 95 50 34.4828 DIAPH1 0 genome.wustl.edu 37 5 140951552 140951552 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 140951552 140951552 C T SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.2414 p.R805H 0.995 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 133 0 0 72 38 34.5455 RELL2 0 genome.wustl.edu 37 5 141019684 141019684 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 141019684 141019684 G T SNP RELL2 ENST00000297164 human ensembl 74_37 +1 known missense c.701 p.S234I 0.045 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC ENSG00000164620 72 0 0 44 21 32.3077 PCDH1 0 genome.wustl.edu 37 5 141244951 141244951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 141244951 141244951 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.945 p.I315 0.157 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 PCDH1 HGNC ENSG00000156453 168 0 0 91 44 32.5926 PCDH12 0 genome.wustl.edu 37 5 141335704 141335704 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 141335704 141335704 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.1713 p.S571 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 108 0 0 49 30 37.9747 PCDH12 0 genome.wustl.edu 37 5 141336702 141336702 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 141336702 141336702 C A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.715 p.D239Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 152 0 0 67 27 28.7234 PCDH12 0 genome.wustl.edu 37 5 141337067 141337067 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 141337067 141337067 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.350 p.A117V 0.984 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 191 0 0 76 44 36.6667 NR3C1 0 genome.wustl.edu 37 5 142780030 142780030 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 142780030 142780030 G A SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known silent c.375 p.S125 1.000 pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,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_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 176 0 0 115 54 31.9527 KCTD16 0 genome.wustl.edu 37 5 143586725 143586725 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 143586725 143586725 A C SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.448 p.I150L 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 130 0 0 71 29 29 TRIO 0 genome.wustl.edu 37 5 14462881 14462881 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 14462881 14462881 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.5514 p.G1838 0.827 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 224 0 0 97 37 27.6119 LARS 0 genome.wustl.edu 37 5 145503552 145503552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 145503552 145503552 G A SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.3089 p.S1030L 1.000 tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 100 0 0 68 32 32 TCERG1 0 genome.wustl.edu 37 5 145883629 145883629 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 145883629 145883629 T C SNP TCERG1 ENST00000509787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCERG1 HGNC ENSG00000113649 21 0 0 13 11 45.8333 TCERG1 0 genome.wustl.edu 37 5 145886637 145886637 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 145886637 145886637 G A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.2777 p.R926Q 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 195 0 0 112 59 34.5029 PPP2R2B 0 genome.wustl.edu 37 5 146070775 146070775 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 146070775 146070775 G A SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known silent c.561 p.S187 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 120 0 0 50 35 41.1765 DPYSL3 0 genome.wustl.edu 37 5 146778797 146778797 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 146778797 146778797 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.1129 p.E377K 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 222 0 0 110 59 34.9112 JAKMIP2 0 genome.wustl.edu 37 5 147020340 147020340 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 147020340 147020340 T G SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1328 p.D443A 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 123 0 0 47 41 46.5909 LPCAT1 0 genome.wustl.edu 37 5 1474721 1474721 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 1474721 1474721 C T SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.979 p.A327T 0.055 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 49 0 0 21 16 43.2432 HTR4 0 genome.wustl.edu 37 5 147902810 147902810 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 147902810 147902810 A G SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known silent c.453 p.F151 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 86 0 0 51 23 31.0811 SH3TC2 0 genome.wustl.edu 37 5 148406848 148406848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 148406848 148406848 A G SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.2447 p.L816S 0.920 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 208 0 0 91 46 33.5766 AFAP1L1 0 genome.wustl.edu 37 5 148679892 148679892 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 148679892 148679892 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known silent c.204 p.F68 0.996 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 29 0 0 26 15 36.5854 AFAP1L1 0 genome.wustl.edu 37 5 148687128 148687128 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 148687128 148687128 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known silent c.699 p.F233 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 78 0 0 39 15 27.7778 AFAP1L1 0 genome.wustl.edu 37 5 148699965 148699965 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 148699965 148699965 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.1637 p.S546F 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 68 0 0 46 19 29.2308 PCYOX1L 0 genome.wustl.edu 37 5 148746955 148746955 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 148746955 148746955 C T SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known silent c.715 p.L239 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 100 0 0 50 19 27.5362 PDE6A 0 genome.wustl.edu 37 5 149324052 149324052 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 149324052 149324052 A C SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.185 p.F62C 0.998 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 100 0 0 44 31 41.3333 CAMK2A 0 genome.wustl.edu 37 5 149607839 149607839 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 149607839 149607839 C T SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known missense c.1153 p.D385N 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 54 0 0 20 12 37.5 DCTN4 0 genome.wustl.edu 37 5 150133162 150133162 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150133162 150133162 C T SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known silent c.264 p.T88 0.598 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 50 0 0 38 17 30.9091 TNIP1 0 genome.wustl.edu 37 5 150418747 150418747 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150418747 150418747 G A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1174 p.R392C 1.000 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 48 0 0 20 17 45.9459 SLC36A2 0 genome.wustl.edu 37 5 150704958 150704958 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150704958 150704958 G T SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.899 p.S300Y 0.983 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 87 0 0 38 12 24 SLC36A1 0 genome.wustl.edu 37 5 150838484 150838484 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150838484 150838484 G T SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.131 p.S44I 0.930 NULL pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 118 0 0 42 20 32.2581 FAT2 0 genome.wustl.edu 37 5 150924751 150924751 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150924751 150924751 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.5937 p.E1979 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 90 0 0 47 27 36.4865 FAT2 0 genome.wustl.edu 37 5 150930303 150930303 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150930303 150930303 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4426 p.D1476N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 69 0 0 21 9 30 FAT2 0 genome.wustl.edu 37 5 150946848 150946848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150946848 150946848 A G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.1645 p.S549P 0.895 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 140 0 0 66 38 36.5385 FAT2 0 genome.wustl.edu 37 5 150948206 150948206 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 150948206 150948206 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.287 p.R96I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 414 1 0.240964 187 97 34.1549 GLRA1 0 genome.wustl.edu 37 5 151208496 151208496 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 151208496 151208496 G A SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.1045 p.R349W 1.000 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 307 0 0 181 100 35.5872 FAM114A2 0 genome.wustl.edu 37 5 153406049 153406049 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 153406049 153406049 C A SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known nonsense c.823 p.E275* 1.000 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 14 0 0 22 10 31.25 LARP1 0 genome.wustl.edu 37 5 154181870 154181870 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 154181870 154181870 G A SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.1789 p.E597K 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 120 1 0.826446 48 29 37.6623 LARP1 0 genome.wustl.edu 37 5 154182861 154182861 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 154182861 154182861 G T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.1890 p.E630D 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 105 0 0 54 30 35.7143 LARP1 0 genome.wustl.edu 37 5 154183768 154183768 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 154183768 154183768 G A SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.2216 p.R739Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 169 0 0 110 12 9.83607 PLEKHG4B 0 genome.wustl.edu 37 5 156256 156256 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 156256 156256 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1211 p.S404F 0.000 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 111 0 0 35 27 43.5484 FAM71B 0 genome.wustl.edu 37 5 156589906 156589906 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 156589906 156589906 G A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1370 p.A457V 0.001 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 211 0 0 109 65 37.3563 CYFIP2 0 genome.wustl.edu 37 5 156734839 156734839 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 156734839 156734839 G T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.866 p.R289I 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 17 0 0 7 9 56.25 CYFIP2 0 genome.wustl.edu 37 5 156747684 156747684 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 156747684 156747684 G T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.1545 p.K515N 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 55 0 0 34 18 34.6154 CYFIP2 0 genome.wustl.edu 37 5 156786115 156786115 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 156786115 156786115 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.2851 p.A951T 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 146 0 0 90 47 34.3066 RNF145 0 genome.wustl.edu 37 5 158596042 158596042 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 158596042 158596042 C T SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known silent c.1050 p.T350 0.109 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 156 0 0 100 51 33.7748 FBXL7 0 genome.wustl.edu 37 5 15928442 15928442 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 15928442 15928442 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.571 p.V191I 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 49 0 0 23 12 34.2857 PWWP2A 0 genome.wustl.edu 37 5 159507740 159507740 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 159507740 159507740 C T SNP PWWP2A ENST00000456329 human ensembl 74_37 -1 known silent c.1587 p.T529 1.000 NULL NULL - no_errors PWWP2A HGNC ENSG00000170234 8 0 0 1 4 80 C1QTNF2 0 genome.wustl.edu 37 5 159781843 159781843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 159781843 159781843 C T SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.311 p.R104Q 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 37 0 0 24 9 27.2727 ATP10B 0 genome.wustl.edu 37 5 159992649 159992649 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 159992649 159992649 G C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.4197 p.H1399Q 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 195 0 0 120 48 28.5714 ATP10B 0 genome.wustl.edu 37 5 159992842 159992842 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 159992842 159992842 T C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.4004 p.D1335G 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 212 0 0 111 54 32.7273 GABRA6 0 genome.wustl.edu 37 5 161128750 161128750 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161128750 161128750 A G SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.1333 p.T445A 1.000 prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 114 0 0 79 37 31.8966 GABRA1 0 genome.wustl.edu 37 5 161300284 161300284 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161300284 161300284 G T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.417 p.M139I 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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 87 0 0 60 28 31.8182 GABRA1 0 genome.wustl.edu 37 5 161309607 161309607 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161309607 161309607 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.603 p.E201 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 78 0 0 48 27 36 GABRA1 0 genome.wustl.edu 37 5 161317999 161317999 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161317999 161317999 C A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.799 p.L267I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 109 0 0 54 24 30.7692 GABRA1 0 genome.wustl.edu 37 5 161324122 161324122 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161324122 161324122 G T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1065 p.K355N 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABBAa1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 139 0 0 94 36 27.6923 GABRA1 0 genome.wustl.edu 37 5 161324264 161324264 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161324264 161324264 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1207 p.E403K 0.988 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 159 0 0 116 44 27.5 GABRG2 0 genome.wustl.edu 37 5 161495013 161495013 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161495013 161495013 C T SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.8 p.S3L 1.000 prints_GABBAg2_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 67 0 0 38 22 36.6667 GABRG2 0 genome.wustl.edu 37 5 161530961 161530961 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161530961 161530961 G T SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.698 p.R233I 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_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 72 0 0 51 33 39.2857 PLEKHG4B 0 genome.wustl.edu 37 5 161926 161926 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 161926 161926 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1448 p.A483V 0.038 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 82 0 0 69 4 5.47945 HMMR 0 genome.wustl.edu 37 5 162900198 162900198 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 162900198 162900198 A G SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.664 p.K222E 0.997 NULL NULL - no_errors HMMR HGNC ENSG00000072571 27 0 0 22 5 18.5185 HMMR 0 genome.wustl.edu 37 5 162900450 162900450 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 162900450 162900450 A C SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.791 p.E264A 0.971 NULL NULL - no_errors HMMR HGNC ENSG00000072571 57 0 0 67 28 29.4737 HMMR 0 genome.wustl.edu 37 5 162902491 162902491 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 162902491 162902491 C T SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.1081 p.L361F 0.980 NULL NULL - no_errors HMMR HGNC ENSG00000072571 57 0 0 45 16 26.2295 ZNF622 0 genome.wustl.edu 37 5 16465454 16465454 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 16465454 16465454 C A SNP ZNF622 ENST00000308683 human ensembl 74_37 -1 known missense c.321 p.E107D 0.126 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 162 0 0 92 36 28.125 MYO10 0 genome.wustl.edu 37 5 16671611 16671611 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 16671611 16671611 A C SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5350 p.F1784V 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 64 0 0 44 15 25.4237 TENM2 0 genome.wustl.edu 37 5 167551866 167551866 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 167551866 167551866 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.2020 p.D674N 1.000 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 39 0 0 13 10 43.4783 TENM2 0 genome.wustl.edu 37 5 167671461 167671461 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 167671461 167671461 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known nonsense c.5557 p.R1853* 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 52 0 0 23 12 34.2857 WWC1 0 genome.wustl.edu 37 5 167855774 167855774 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 167855774 167855774 G A SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.1982 p.R661Q 0.981 superfamily_C2_dom pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 91 0 0 33 30 47.619 MYO10 0 genome.wustl.edu 37 5 16794857 16794857 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 16794857 16794857 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.365 p.S122N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 34 0 0 21 7 25 PANK3 0 genome.wustl.edu 37 5 167990936 167990936 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 167990936 167990936 T G SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known missense c.770 p.D257A 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 207 0 0 131 73 35.7843 DOCK2 0 genome.wustl.edu 37 5 169141087 169141087 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 169141087 169141087 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.1715 p.R572Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 114 0 0 54 27 33.3333 LCP2 0 genome.wustl.edu 37 5 169679511 169679511 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 169679511 169679511 G T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known nonsense c.1250 p.S417* 0.985 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 10 0 0 6 6 50 NPM1 0 genome.wustl.edu 37 5 170818793 170818793 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 170818793 170818793 G A SNP NPM1 ENST00000296930 human ensembl 74_37 +1 known silent c.342 p.Q114 1.000 superfamily_Nucleoplasmin_core_dom superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 84 0 0 40 23 36.5079 FBXW11 0 genome.wustl.edu 37 5 171295779 171295779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 171295779 171295779 G A SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.1489 p.R497W 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 67 0 0 42 27 39.1304 FBXW11 0 genome.wustl.edu 37 5 171299912 171299912 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 171299912 171299912 C T SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.1241 p.R414H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 87 0 0 53 32 37.6471 ERGIC1 0 genome.wustl.edu 37 5 172341770 172341770 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 172341770 172341770 G A SNP ERGIC1 ENST00000393784 human ensembl 74_37 +1 known missense c.304 p.D102N 1.000 NULL pfam_Erv_C - no_errors ERGIC1 HGNC ENSG00000113719 81 0 0 63 6 8.69565 RPL26L1 0 genome.wustl.edu 37 5 172396461 172396461 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 172396461 172396461 C A SNP RPL26L1 ENST00000265100 human ensembl 74_37 +1 known missense c.355 p.L119I 1.000 superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L26/L24P_euk/arc pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26L1 HGNC ENSG00000037241 141 0 0 82 32 28.0702 CREBRF 0 genome.wustl.edu 37 5 172513516 172513516 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 172513516 172513516 G T SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known nonsense c.22 p.G8* 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 131 0 0 98 42 30 BNIP1 0 genome.wustl.edu 37 5 172590728 172590728 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 172590728 172590728 T G SNP BNIP1 ENST00000231668 human ensembl 74_37 +1 known missense c.620 p.V207G 0.936 pfam_Sec20 pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 58 0 0 43 13 23.2143 CDHR2 0 genome.wustl.edu 37 5 176003151 176003151 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 176003151 176003151 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1159 p.D387N 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 97 0 0 49 36 42.3529 HK3 0 genome.wustl.edu 37 5 176308305 176308305 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 176308305 176308305 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.2625 p.P875 0.034 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 202 0 0 70 30 30 NSD1 0 genome.wustl.edu 37 5 176636805 176636805 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 176636805 176636805 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.1405 p.D469Y 0.997 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 134 0 0 89 47 34.5588 NSD1 0 genome.wustl.edu 37 5 176671259 176671259 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 176671259 176671259 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.4366 p.D1456Y 0.919 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 36 0 0 22 12 35.2941 NHP2 0 genome.wustl.edu 37 5 177580513 177580513 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 177580513 177580513 A C SNP NHP2 ENST00000274606 human ensembl 74_37 -1 known missense c.209 p.F70C 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk - no_errors NHP2 HGNC ENSG00000145912 279 0 0 128 62 32.6316 COL23A1 0 genome.wustl.edu 37 5 177681965 177681965 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 177681965 177681965 G T SNP COL23A1 ENST00000390654 human ensembl 74_37 -1 known silent c.945 p.I315 1.000 NULL pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 316 0 0 164 77 31.9502 ZNF354A 0 genome.wustl.edu 37 5 178139758 178139758 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178139758 178139758 C A SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.1121 p.R374I 1.000 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 ZNF354A HGNC ENSG00000169131 120 1 0.826446 76 35 31.5315 ZNF354A 0 genome.wustl.edu 37 5 178152396 178152396 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178152396 178152396 A G SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known silent c.237 p.G79 0.000 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 ZNF354A HGNC ENSG00000169131 229 0 0 131 40 23.3918 AACSP1 0 genome.wustl.edu 37 5 178194260 178194260 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178194260 178194260 G A SNP AACSP1 ENST00000503486 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AACSP1 HGNC ENSG00000250420 39 0 0 12 5 29.4118 AACSP1 0 genome.wustl.edu 37 5 178202321 178202321 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178202321 178202321 G A SNP AACSP1 ENST00000503486 human ensembl 74_37 -1 known rna NULL NULL 0.805 - - - no_errors AACSP1 HGNC ENSG00000250420 13 0 0 3 4 57.1429 ZNF354B 0 genome.wustl.edu 37 5 178309931 178309931 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178309931 178309931 A C SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known missense c.478 p.N160H 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 53 0 0 43 21 32.8125 ZNF454 0 genome.wustl.edu 37 5 178373364 178373364 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178373364 178373364 C T SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.38 p.S13L 0.006 superfamily_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 ZNF454 HGNC ENSG00000178187 123 0 0 69 37 34.9057 ZNF454 0 genome.wustl.edu 37 5 178392029 178392029 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178392029 178392029 A C SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.624 p.K208N 0.966 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 85 0 0 47 39 45.3488 ZNF454 0 genome.wustl.edu 37 5 178392784 178392784 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178392784 178392784 G T SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.1379 p.R460I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 160 0 0 104 45 30.2013 ZNF879 0 genome.wustl.edu 37 5 178460208 178460208 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178460208 178460208 G T SNP ZNF879 ENST00000444149 human ensembl 74_37 +1 known missense c.1259 p.R420I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF879 HGNC ENSG00000234284 11 0 0 16 7 30.4348 ZNF879 0 genome.wustl.edu 37 5 178460260 178460260 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178460260 178460260 C T SNP ZNF879 ENST00000444149 human ensembl 74_37 +1 known silent c.1311 p.F437 0.097 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 ZNF879 HGNC ENSG00000234284 11 0 0 10 5 33.3333 ZNF354C 0 genome.wustl.edu 37 5 178505734 178505734 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178505734 178505734 T G SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.301 p.F101V 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 74 0 0 50 31 38.2716 ZNF354C 0 genome.wustl.edu 37 5 178506881 178506881 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178506881 178506881 T G SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known nonsense c.1448 p.L483* 0.348 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 ZNF354C HGNC ENSG00000177932 101 0 0 61 42 40.7767 ADAMTS2 0 genome.wustl.edu 37 5 178541025 178541025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178541025 178541025 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.3479 p.A1160V 0.442 prints_Pept_M12B_ADAM-TS2 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 204 0 0 86 50 36.7647 ADAMTS2 0 genome.wustl.edu 37 5 178557056 178557056 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178557056 178557056 C A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2334 p.E778D 0.925 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 87 0 0 48 23 32.3944 ADAMTS2 0 genome.wustl.edu 37 5 178770784 178770784 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 178770784 178770784 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.518 p.S173N 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 27 0 0 11 7 38.8889 MAML1 0 genome.wustl.edu 37 5 179195995 179195995 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 179195995 179195995 T C SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known silent c.1876 p.L626 0.040 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 222 0 0 103 53 33.9744 MAML1 0 genome.wustl.edu 37 5 179221059 179221059 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 179221059 179221059 C T SNP MAML1 ENST00000503050 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAML1 HGNC ENSG00000161021 81 0 0 39 15 27.7778 TBC1D9B 0 genome.wustl.edu 37 5 179302018 179302018 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 179302018 179302018 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known silent c.2070 p.C690 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 111 0 0 58 26 30.9524 RASGEF1C 0 genome.wustl.edu 37 5 179529139 179529139 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 179529139 179529139 A C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known silent c.1308 p.L436 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 76 0 0 36 23 38.9831 GFPT2 0 genome.wustl.edu 37 5 179743815 179743815 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 179743815 179743815 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.1101 p.C367 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 56 0 0 37 23 38.3333 CNOT6 0 genome.wustl.edu 37 5 179994129 179994129 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 179994129 179994129 G A SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known silent c.759 p.E253 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 105 0 0 66 37 35.9223 FLT4 0 genome.wustl.edu 37 5 180057603 180057603 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 180057603 180057603 C A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.352 p.A118S 1.000 smart_Ig_sub,prints_VEGFR3_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 98 0 0 39 21 35 CDH18 0 genome.wustl.edu 37 5 19747052 19747052 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 19747052 19747052 C A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.522 p.M174I 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 123 0 0 59 29 32.9545 CDH12 0 genome.wustl.edu 37 5 21752079 21752079 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 21752079 21752079 G T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.2152 p.H718N 0.452 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 131 1 0.757576 79 28 26.1682 CDH12 0 genome.wustl.edu 37 5 21975363 21975363 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 21975363 21975363 C A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.363 p.E121D 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 199 0 0 90 40 30.7692 PRDM9 0 genome.wustl.edu 37 5 23526399 23526399 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 23526399 23526399 A C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1202 p.K401T 0.107 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 151 0 0 82 42 33.871 CDH10 0 genome.wustl.edu 37 5 24487619 24487619 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 24487619 24487619 G T SNP CDH10 ENST00000502921 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CDH10 HGNC ENSG00000040731 31 0 0 21 10 32.2581 CDH10 0 genome.wustl.edu 37 5 24487912 24487912 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 24487912 24487912 A C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2227 p.S743A 0.988 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 196 0 0 125 49 28.1609 CDH10 0 genome.wustl.edu 37 5 24505233 24505233 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 24505233 24505233 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1381 p.A461T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 80 0 0 48 21 30.4348 CDH9 0 genome.wustl.edu 37 5 26881475 26881475 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 26881475 26881475 C A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.2140 p.D714Y 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 168 0 0 110 41 27.1523 CDH9 0 genome.wustl.edu 37 5 26881565 26881565 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 26881565 26881565 C A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known nonsense c.2050 p.E684* 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 249 0 0 137 88 39.1111 CDH9 0 genome.wustl.edu 37 5 26890660 26890660 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 26890660 26890660 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1267 p.R423W 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 - no_errors CDH9 HGNC ENSG00000113100 126 0 0 85 43 33.5938 CDH9 0 genome.wustl.edu 37 5 26902745 26902745 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 26902745 26902745 T C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1093 p.K365E 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 CDH9 HGNC ENSG00000113100 86 0 0 96 11 10.2804 CDH9 0 genome.wustl.edu 37 5 26988334 26988334 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 26988334 26988334 T C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.107 p.K36R 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 59 0 0 48 24 33.3333 CDH6 0 genome.wustl.edu 37 5 31313500 31313500 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 31313500 31313500 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.1329 p.S443 0.599 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 218 0 0 120 67 35.8289 CDH6 0 genome.wustl.edu 37 5 31323161 31323161 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 31323161 31323161 C T SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.2119 p.R707C 0.047 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 76 0 0 52 20 27.7778 DROSHA 0 genome.wustl.edu 37 5 31508786 31508786 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 31508786 31508786 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.1529 p.R510H 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 123 0 0 65 25 27.7778 DROSHA 0 genome.wustl.edu 37 5 31521241 31521241 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 31521241 31521241 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known silent c.936 p.K312 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 187 0 0 122 59 32.5967 PDZD2 0 genome.wustl.edu 37 5 31799489 31799489 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 31799489 31799489 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.134 p.Y45C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 219 0 0 126 47 27.1676 PDZD2 0 genome.wustl.edu 37 5 32087704 32087704 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 32087704 32087704 T G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.4150 p.S1384A 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 67 0 0 36 6 14.2857 ZFR 0 genome.wustl.edu 37 5 32388677 32388677 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 32388677 32388677 G T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.2246 p.S749Y 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 83 0 0 58 29 33.3333 NPR3 0 genome.wustl.edu 37 5 32712124 32712124 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 32712124 32712124 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.242 p.R81H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 63 0 0 26 10 27.7778 NPR3 0 genome.wustl.edu 37 5 32774841 32774841 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 32774841 32774841 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.1087 p.D363N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 233 0 0 91 47 34.058 NPR3 0 genome.wustl.edu 37 5 32783106 32783106 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 32783106 32783106 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known silent c.1398 p.E466 1.000 NULL pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 9 0 0 6 10 62.5 ENSG00000181495 0 genome.wustl.edu 37 5 32789659 32789659 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 32789659 32789659 G T SNP ENSG00000181495 ENST00000326958 human ensembl 74_37 +1 novel missense c.152 p.R51I 0.000 NULL NULL - no_errors AC026703.1 Clone_based_ensembl_gene ENSG00000181495 112 0 0 38 66 63.4615 TARS 0 genome.wustl.edu 37 5 33467669 33467669 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 33467669 33467669 T G SNP TARS ENST00000265112 human ensembl 74_37 +1 known silent c.2028 p.V676 0.998 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 56 0 0 37 18 32.7273 C1QTNF3 0 genome.wustl.edu 37 5 34033499 34033499 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 34033499 34033499 G A SNP C1QTNF3 ENST00000382065 human ensembl 74_37 -1 known silent c.480 p.G160 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 129 0 0 83 61 42.3611 C1QTNF3 0 genome.wustl.edu 37 5 34043141 34043141 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 34043141 34043141 G A SNP C1QTNF3 ENST00000382065 human ensembl 74_37 -1 known silent c.90 p.S30 1.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 260 0 0 147 66 30.9859 RAI14 0 genome.wustl.edu 37 5 34807920 34807920 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 34807920 34807920 G A SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.346 p.E116K 0.212 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 96 0 0 67 32 32.3232 TTC23L 0 genome.wustl.edu 37 5 34845772 34845772 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 34845772 34845772 A G SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known silent c.249 p.E83 0.041 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 35 0 0 26 9 25.7143 RAD1 0 genome.wustl.edu 37 5 34913634 34913634 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 34913634 34913634 C T SNP RAD1 ENST00000341754 human ensembl 74_37 -1 known missense c.248 p.R83Q 1.000 pfam_Rad1_Rec1_Rad17,prints_Cell_cycle_checkpoint_Rad1 pfam_Rad1_Rec1_Rad17,prints_Rad1_Rec1_Rad17,prints_Cell_cycle_checkpoint_Rad1 - no_errors RAD1 HGNC ENSG00000113456 47 0 0 50 25 33.3333 AGXT2 0 genome.wustl.edu 37 5 35035348 35035348 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 35035348 35035348 T C SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.560 p.N187S 0.774 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 120 0 0 110 19 14.7287 AGXT2 0 genome.wustl.edu 37 5 35039553 35039553 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 35039553 35039553 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.238 p.A80T 0.168 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 92 0 0 52 33 38.8235 SPEF2 0 genome.wustl.edu 37 5 35628563 35628563 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 35628563 35628563 T C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.60 p.S20 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 96 0 0 58 22 27.5 IL7R 0 genome.wustl.edu 37 5 35873660 35873660 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 35873660 35873660 C T SNP IL7R ENST00000303115 human ensembl 74_37 +1 known nonsense c.616 p.R206* 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 85 0 0 59 23 28.0488 UGT3A1 0 genome.wustl.edu 37 5 35965926 35965926 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 35965926 35965926 C A SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.405 p.K135N 0.889 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 81 0 0 40 25 38.4615 UGT3A2 0 genome.wustl.edu 37 5 36049086 36049086 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 36049086 36049086 T G SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.748 p.N250H 0.898 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 152 0 0 77 38 33.0435 SLC1A3 0 genome.wustl.edu 37 5 36608664 36608664 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 36608664 36608664 C T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known missense c.139 p.R47W 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 253 0 0 136 65 32.3383 SLC1A3 0 genome.wustl.edu 37 5 36671167 36671167 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 36671167 36671167 T C SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known missense c.356 p.M119T 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 73 0 0 47 25 34.7222 NIPBL 0 genome.wustl.edu 37 5 36971016 36971016 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 36971016 36971016 A C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.649 p.N217H 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 64 0 0 50 25 33.3333 C5orf42 0 genome.wustl.edu 37 5 37183640 37183640 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 37183640 37183640 T G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.4643 p.D1548A 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 42 0 0 44 15 25.4237 NUP155 0 genome.wustl.edu 37 5 37299063 37299063 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 37299063 37299063 T C SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.3700 p.T1234A 0.082 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 66 0 0 32 18 36 WDR70 0 genome.wustl.edu 37 5 37727132 37727132 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 37727132 37727132 C T SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.1862 p.S621F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 122 0 0 78 31 28.4404 LIFR 0 genome.wustl.edu 37 5 38481831 38481831 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 38481831 38481831 T G SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.3160 p.I1054L 0.004 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 196 0 0 111 60 35.0877 LIFR 0 genome.wustl.edu 37 5 38506127 38506127 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 38506127 38506127 C T SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1171 p.E391K 0.987 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 62 0 0 75 36 32.4324 LIFR 0 genome.wustl.edu 37 5 38523553 38523553 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 38523553 38523553 G T SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.529 p.L177I 0.270 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 94 0 0 118 7 5.6 OSMR 0 genome.wustl.edu 37 5 38884119 38884119 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 38884119 38884119 G A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known silent c.609 p.V203 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 235 0 0 135 70 34.1463 OSMR 0 genome.wustl.edu 37 5 38924691 38924691 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 38924691 38924691 C A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.2038 p.L680I 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 149 0 0 75 40 34.7826 RICTOR 0 genome.wustl.edu 37 5 38945754 38945754 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 38945754 38945754 T G SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.4544 p.E1515A 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 68 0 0 62 24 27.907 FYB 0 genome.wustl.edu 37 5 39202791 39202791 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 39202791 39202791 C A SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.302 p.R101I 0.982 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 51 0 0 30 12 28.5714 C9 0 genome.wustl.edu 37 5 39311447 39311447 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 39311447 39311447 A G SNP C9 ENST00000263408 human ensembl 74_37 -1 known silent c.903 p.I301 0.864 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 74 0 0 42 25 37.3134 C9 0 genome.wustl.edu 37 5 39342196 39342196 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 39342196 39342196 T G SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.180 p.Q60H 0.992 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 93 0 0 53 22 29.3333 DAB2 0 genome.wustl.edu 37 5 39376141 39376141 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 39376141 39376141 C A SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.2205 p.E735D 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 97 0 0 72 35 32.7103 DAB2 0 genome.wustl.edu 37 5 39382876 39382876 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 39382876 39382876 C T SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known silent c.1185 p.P395 0.999 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 160 0 0 61 30 32.967 PRKAA1 0 genome.wustl.edu 37 5 40767575 40767575 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 40767575 40767575 C A SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.859 p.D287Y 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_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 73 0 0 36 26 41.9355 SNORD72 0 genome.wustl.edu 37 5 40832758 40832758 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 40832758 40832758 C T SNP SNORD72 ENST00000390994 human ensembl 74_37 -1 known rna NULL NULL 0.577 - - - no_errors SNORD72 HGNC ENSG00000212296 121 0 0 76 31 28.972 CARD6 0 genome.wustl.edu 37 5 40852710 40852710 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 40852710 40852710 G T SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.1276 p.D426Y 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 76 0 0 53 8 13.1148 CARD6 0 genome.wustl.edu 37 5 40853422 40853422 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 40853422 40853422 A G SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.1988 p.N663S 0.834 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 250 0 0 122 75 38.0711 MROH2B 0 genome.wustl.edu 37 5 40998171 40998171 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 40998171 40998171 T C SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4741 p.T1581A 0.881 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 236 0 0 131 67 33.8384 MROH2B 0 genome.wustl.edu 37 5 41058242 41058242 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 41058242 41058242 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.679 p.R227C 0.171 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 45 0 0 33 18 35.2941 C6 0 genome.wustl.edu 37 5 41181522 41181522 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 41181522 41181522 C T SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.866 p.R289K 0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 96 0 0 64 34 34.6939 PLCXD3 0 genome.wustl.edu 37 5 41382433 41382433 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 41382433 41382433 G A SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.307 p.P103S 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 112 0 0 57 35 38.0435 GHR 0 genome.wustl.edu 37 5 42719381 42719381 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 42719381 42719381 C T SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.1772 p.P591L 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 75 0 0 38 18 32.1429 C5orf28 0 genome.wustl.edu 37 5 43446338 43446338 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 43446338 43446338 G T SNP C5orf28 ENST00000397080 human ensembl 74_37 -1 known missense c.634 p.R212S 0.995 NULL NULL - no_errors C5orf28 HGNC ENSG00000151881 83 0 0 79 7 8.13953 C5orf34 0 genome.wustl.edu 37 5 43490760 43490760 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 43490760 43490760 G A SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known missense c.1652 p.S551L 0.006 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 69 0 0 44 19 30.1587 NNT 0 genome.wustl.edu 37 5 43613147 43613147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 43613147 43613147 G A SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.289 p.E97K 1.000 pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 194 0 0 115 47 29.0123 MRPS30 0 genome.wustl.edu 37 5 44811250 44811250 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 44811250 44811250 C T SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known silent c.741 p.L247 0.916 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 120 0 0 85 39 31.4516 PARP8 0 genome.wustl.edu 37 5 50117077 50117077 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 50117077 50117077 T C SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1699 p.S567P 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 104 0 0 60 41 40.5941 ADAMTS16 0 genome.wustl.edu 37 5 5186365 5186365 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 5186365 5186365 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known splice_site c.963+1 e5+1 1.000 - - - no_errors ADAMTS16 HGNC ENSG00000145536 41 0 0 31 3 8.82353 ITGA1 0 genome.wustl.edu 37 5 52216277 52216277 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 52216277 52216277 T G SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.2271 p.T757 0.482 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 53 0 0 40 5 11.1111 ADAMTS16 0 genome.wustl.edu 37 5 5239839 5239839 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 5239839 5239839 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2324 p.R775H 0.537 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 179 0 0 91 50 35.461 FST 0 genome.wustl.edu 37 5 52779982 52779982 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 52779982 52779982 C T SNP FST ENST00000256759 human ensembl 74_37 +1 known missense c.580 p.R194W 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 135 0 0 70 33 32.0388 ESM1 0 genome.wustl.edu 37 5 54275116 54275116 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 54275116 54275116 A G SNP ESM1 ENST00000598310 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ESM1 HGNC ENSG00000164283 86 0 0 44 28 38.8889 GZMA 0 genome.wustl.edu 37 5 54404084 54404084 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 54404084 54404084 C T SNP GZMA ENST00000274306 human ensembl 74_37 +1 known silent c.489 p.S163 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 60 0 0 38 24 38.7097 KIAA0947 0 genome.wustl.edu 37 5 5460963 5460963 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 5460963 5460963 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known nonsense c.1516 p.R506* 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 112 0 0 66 41 38.3178 KIAA0947 0 genome.wustl.edu 37 5 5461150 5461150 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 5461150 5461150 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.1703 p.R568Q 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 222 0 0 122 72 37.1134 KIAA0947 0 genome.wustl.edu 37 5 5461831 5461831 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 5461831 5461831 A G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.2384 p.D795G 0.448 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 44 0 0 16 11 40.7407 PPAP2A 0 genome.wustl.edu 37 5 54721131 54721131 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 54721131 54721131 C A SNP PPAP2A ENST00000264775 human ensembl 74_37 -1 known missense c.761 p.R254I 0.095 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2A HGNC ENSG00000067113 83 0 0 45 26 36.6197 SLC38A9 0 genome.wustl.edu 37 5 54993700 54993700 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 54993700 54993700 A C SNP SLC38A9 ENST00000318672 human ensembl 74_37 -1 known missense c.87 p.F29L 0.998 NULL pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 90 0 0 62 16 20.5128 DDX4 0 genome.wustl.edu 37 5 55059080 55059080 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 55059080 55059080 G T SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.283 p.G95C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 72 0 0 46 28 37.8378 DDX4 0 genome.wustl.edu 37 5 55082355 55082355 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 55082355 55082355 G T SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known nonsense c.874 p.E292* 1.000 superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 81 0 0 43 29 40.2778 IL31RA 0 genome.wustl.edu 37 5 55164656 55164656 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 55164656 55164656 C A SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known nonsense c.192 p.Y64* 0.672 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 102 0 0 82 43 34.4 IL31RA 0 genome.wustl.edu 37 5 55212583 55212583 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 55212583 55212583 T G SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.1930 p.F644V 1.000 NULL pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 78 0 0 54 21 28 MAP3K1 0 genome.wustl.edu 37 5 56181765 56181765 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 56181765 56181765 C T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.3989 p.S1330L 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_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 51 0 0 57 19 25 GPBP1 0 genome.wustl.edu 37 5 56526703 56526703 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 56526703 56526703 A C SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known missense c.94 p.N32H 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 113 0 0 54 32 37.2093 GPBP1 0 genome.wustl.edu 37 5 56546838 56546838 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 56546838 56546838 A C SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known missense c.1090 p.N364H 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 92 0 0 51 32 38.5542 PLK2 0 genome.wustl.edu 37 5 57752802 57752802 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 57752802 57752802 T G SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known missense c.1126 p.K376Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 85 0 0 56 41 42.268 PLK2 0 genome.wustl.edu 37 5 57754894 57754894 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 57754894 57754894 A G SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known missense c.296 p.M99T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 104 0 0 58 26 30.9524 PDE4D 0 genome.wustl.edu 37 5 58287668 58287668 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 58287668 58287668 G A SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known silent c.1179 p.V393 0.609 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 19 0 0 14 7 33.3333 PDE4D 0 genome.wustl.edu 37 5 58652665 58652665 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 58652665 58652665 A T SNP PDE4D ENST00000405755 human ensembl 74_37 -1 known missense c.8 p.F3Y 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 38 0 0 20 10 33.3333 DEPDC1B 0 genome.wustl.edu 37 5 59901524 59901524 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 59901524 59901524 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.1058 p.R353Q 0.999 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 155 0 0 102 40 28.169 DEPDC1B 0 genome.wustl.edu 37 5 59941376 59941376 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 59941376 59941376 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.521 p.R174H 0.998 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 77 0 0 47 35 42.6829 DEPDC1B 0 genome.wustl.edu 37 5 59982961 59982961 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 59982961 59982961 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.142 p.E48K 0.335 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 154 0 0 83 44 34.6457 ELOVL7 0 genome.wustl.edu 37 5 60067919 60067919 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 60067919 60067919 A G SNP ELOVL7 ENST00000425382 human ensembl 74_37 -1 known silent c.66 p.D22 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL7 HGNC ENSG00000164181 21 0 0 17 6 26.087 KIF2A 0 genome.wustl.edu 37 5 61643984 61643984 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 61643984 61643984 A C SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.269 p.K90T 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 122 0 0 90 37 29.1339 KIF2A 0 genome.wustl.edu 37 5 61669521 61669521 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 61669521 61669521 G T SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known nonsense c.1768 p.E590* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 44 0 0 23 9 28.125 RNF180 0 genome.wustl.edu 37 5 63509662 63509662 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 63509662 63509662 G A SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known missense c.509 p.R170Q 0.975 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 130 0 0 81 37 31.3559 ADAMTS6 0 genome.wustl.edu 37 5 64520865 64520865 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 64520865 64520865 A C SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.2077 p.C693G 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 80 0 0 57 29 33.7209 TRIM23 0 genome.wustl.edu 37 5 64892294 64892294 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 64892294 64892294 T G SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.1374 p.K458N 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 73 0 0 51 17 25 NSUN2 0 genome.wustl.edu 37 5 6623341 6623341 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 6623341 6623341 G A SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.523 p.R175W 0.612 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 92 0 0 50 29 36.7089 MAST4 0 genome.wustl.edu 37 5 66438048 66438048 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 66438048 66438048 A G SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.2609 p.D870G 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 100 0 0 69 32 31.6832 MAST4 0 genome.wustl.edu 37 5 66461024 66461024 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 66461024 66461024 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.6026 p.A2009V 0.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 20 0 0 16 4 20 CCNB1 0 genome.wustl.edu 37 5 68470866 68470866 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 68470866 68470866 C G SNP CCNB1 ENST00000256442 human ensembl 74_37 +1 known missense c.868 p.L290V 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNB1 HGNC ENSG00000134057 226 0 0 111 53 32.3171 CCNB1 0 genome.wustl.edu 37 5 68470918 68470918 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 68470918 68470918 G A SNP CCNB1 ENST00000256442 human ensembl 74_37 +1 known missense c.920 p.R307Q 0.994 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNB1 HGNC ENSG00000134057 187 0 0 95 52 35.3741 RAD17 0 genome.wustl.edu 37 5 68681898 68681898 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 68681898 68681898 C A SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known missense c.707 p.S236Y 0.915 superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 53 0 0 60 23 27.7108 NAIP 0 genome.wustl.edu 37 5 70308498 70308498 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70308498 70308498 G A SNP NAIP ENST00000194097 human ensembl 74_37 -1 known missense c.245 p.A82V 0.964 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 156 0 0 90 32 26.2295 NAIP 0 genome.wustl.edu 37 5 70308571 70308571 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70308571 70308571 G A SNP NAIP ENST00000194097 human ensembl 74_37 -1 known missense c.172 p.R58C 1.000 smart_BIR pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 273 0 0 150 67 30.8756 BDP1 0 genome.wustl.edu 37 5 70786822 70786822 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70786822 70786822 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.1504 p.A502T 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 78 0 0 52 21 28.7671 BDP1 0 genome.wustl.edu 37 5 70791146 70791146 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70791146 70791146 C T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.1710 p.F570 0.011 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 103 0 0 64 29 31.1828 BDP1 0 genome.wustl.edu 37 5 70805836 70805836 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70805836 70805836 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.2917 p.V973M 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 134 0 0 102 51 33.3333 BDP1 0 genome.wustl.edu 37 5 70810930 70810930 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70810930 70810930 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4630 p.D1544N 0.004 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 52 0 0 38 16 29.6296 BDP1 0 genome.wustl.edu 37 5 70818628 70818628 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70818628 70818628 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.5239 p.D1747Y 0.994 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 66 0 0 44 28 38.8889 BDP1 0 genome.wustl.edu 37 5 70855831 70855831 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70855831 70855831 T C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.7263 p.D2421 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 123 0 0 71 44 38.2609 BDP1 0 genome.wustl.edu 37 5 70858262 70858262 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70858262 70858262 A G SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.7658 p.E2553G 0.943 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 88 0 0 96 10 9.43396 MCCC2 0 genome.wustl.edu 37 5 70930886 70930886 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70930886 70930886 C A SNP MCCC2 ENST00000505787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MCCC2 HGNC ENSG00000131844 86 0 0 51 27 34.6154 MCCC2 0 genome.wustl.edu 37 5 70948577 70948577 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 70948577 70948577 G A SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known missense c.1570 p.A524T 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 54 0 0 35 15 30 MAP1B 0 genome.wustl.edu 37 5 71494696 71494696 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 71494696 71494696 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.5514 p.F1838 0.542 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 117 0 0 67 30 30.9278 MRPS27 0 genome.wustl.edu 37 5 71524145 71524145 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 71524145 71524145 T G SNP MRPS27 ENST00000513900 human ensembl 74_37 -1 known missense c.684 p.K228N 0.999 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC ENSG00000113048 98 0 0 75 24 24.2424 ZNF366 0 genome.wustl.edu 37 5 71739902 71739902 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 71739902 71739902 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.1916 p.S639N 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 359 0 0 194 69 26.2357 TNPO1 0 genome.wustl.edu 37 5 72201159 72201159 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 72201159 72201159 C T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known silent c.2619 p.G873 0.914 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 155 0 0 85 39 31.4516 FCHO2 0 genome.wustl.edu 37 5 72285288 72285288 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 72285288 72285288 A C SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known missense c.160 p.T54P 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 11 0 0 11 5 31.25 BTF3 0 genome.wustl.edu 37 5 72798357 72798357 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 72798357 72798357 A G SNP BTF3 ENST00000380591 human ensembl 74_37 +1 known silent c.246 p.T82 0.992 pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors BTF3 HGNC ENSG00000145741 43 0 0 61 7 10.2941 BTF3 0 genome.wustl.edu 37 5 72801174 72801174 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 72801174 72801174 C T SNP BTF3 ENST00000514505 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BTF3 HGNC ENSG00000145741 14 0 0 12 7 36.8421 ARHGEF28 0 genome.wustl.edu 37 5 73153952 73153952 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 73153952 73153952 G A SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.1955 p.R652Q 1.000 pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 171 1 0.581395 119 53 30.814 ARHGEF28 0 genome.wustl.edu 37 5 73207201 73207201 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 73207201 73207201 T G SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.4749 p.N1583K 0.063 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 50 0 0 36 14 28 GFM2 0 genome.wustl.edu 37 5 74047274 74047274 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 74047274 74047274 G A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known nonsense c.349 p.R117* 0.999 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 198 0 0 122 64 34.4086 NSA2 0 genome.wustl.edu 37 5 74066522 74066522 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 74066522 74066522 C T SNP NSA2 ENST00000296802 human ensembl 74_37 +1 known nonsense c.409 p.R137* 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 80 0 0 63 30 32.2581 GCNT4 0 genome.wustl.edu 37 5 74324701 74324701 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 74324701 74324701 G A SNP GCNT4 ENST00000322348 human ensembl 74_37 -1 known nonsense c.1162 p.R388* 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 86 0 0 57 50 46.729 HMGCR 0 genome.wustl.edu 37 5 74645970 74645970 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 74645970 74645970 A C SNP HMGCR ENST00000287936 human ensembl 74_37 +1 known missense c.660 p.L220F 0.995 pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 90 0 0 54 22 28.9474 POLK 0 genome.wustl.edu 37 5 74869615 74869615 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 74869615 74869615 G A SNP POLK ENST00000241436 human ensembl 74_37 +1 known missense c.461 p.G154E 1.000 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 110 0 0 78 42 35 POLK 0 genome.wustl.edu 37 5 74892287 74892287 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 74892287 74892287 A G SNP POLK ENST00000241436 human ensembl 74_37 +1 known missense c.1769 p.K590R 0.002 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 111 0 0 92 44 32.3529 SV2C 0 genome.wustl.edu 37 5 75427987 75427987 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 75427987 75427987 T C SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.412 p.Y138H 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 158 0 0 89 38 29.9213 F2RL2 0 genome.wustl.edu 37 5 75913486 75913486 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 75913486 75913486 A C SNP F2RL2 ENST00000296641 human ensembl 74_37 -1 known missense c.1046 p.L349R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL2 HGNC ENSG00000164220 71 0 0 59 28 32.1839 IQGAP2 0 genome.wustl.edu 37 5 75927780 75927780 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 75927780 75927780 A G SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.1709 p.D570G 0.001 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_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 95 0 0 61 31 33.6957 F2RL1 0 genome.wustl.edu 37 5 76129240 76129240 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 76129240 76129240 C T SNP F2RL1 ENST00000296677 human ensembl 74_37 +1 known nonsense c.808 p.R270* 0.166 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors F2RL1 HGNC ENSG00000164251 226 0 0 101 59 36.875 AGGF1 0 genome.wustl.edu 37 5 76344002 76344002 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 76344002 76344002 G A SNP AGGF1 ENST00000312916 human ensembl 74_37 +1 known nonsense c.1218 p.W406* 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 132 0 0 102 35 25.5474 PDE8B 0 genome.wustl.edu 37 5 76607841 76607841 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 76607841 76607841 G A SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.362 p.R121H 0.985 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 172 0 0 88 53 37.5887 AP3B1 0 genome.wustl.edu 37 5 77409712 77409712 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 77409712 77409712 C T SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.2113 p.E705K 0.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 80 0 0 39 15 27.7778 AP3B1 0 genome.wustl.edu 37 5 77423858 77423858 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 77423858 77423858 T G SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.1964 p.E655A 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 105 0 0 100 8 7.40741 SCAMP1 0 genome.wustl.edu 37 5 77717663 77717663 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 77717663 77717663 T C SNP SCAMP1 ENST00000538629 human ensembl 74_37 +1 known silent c.511 p.L171 0.992 pfam_SCAMP pfam_SCAMP - no_errors SCAMP1 HGNC ENSG00000085365 156 0 0 161 16 9.03955 ADCY2 0 genome.wustl.edu 37 5 7789775 7789775 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 7789775 7789775 A G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.2490 p.L830 1.000 NULL 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 115 0 0 66 42 38.8889 JMY 0 genome.wustl.edu 37 5 78608246 78608246 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 78608246 78608246 T C SNP JMY ENST00000396137 human ensembl 74_37 +1 known silent c.1989 p.D663 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 69 0 0 64 31 32.6316 JMY 0 genome.wustl.edu 37 5 78608266 78608266 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 78608266 78608266 C T SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.2009 p.A670V 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 71 0 0 67 34 33.6634 HOMER1 0 genome.wustl.edu 37 5 78734856 78734856 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 78734856 78734856 C T SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known silent c.504 p.Q168 1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 140 0 0 93 29 23.7705 PAPD4 0 genome.wustl.edu 37 5 78975427 78975427 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 78975427 78975427 C T SNP PAPD4 ENST00000296783 human ensembl 74_37 +1 known missense c.1234 p.R412C 1.000 pfam_PAP_assoc pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 59 0 0 45 27 37.5 CMYA5 0 genome.wustl.edu 37 5 79026867 79026867 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79026867 79026867 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.2279 p.E760A 0.005 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 108 0 0 70 40 36.3636 CMYA5 0 genome.wustl.edu 37 5 79028077 79028077 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79028077 79028077 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.3489 p.E1163D 0.073 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 57 0 0 36 23 38.9831 CMYA5 0 genome.wustl.edu 37 5 79028508 79028508 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79028508 79028508 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.3920 p.S1307F 0.002 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 26 0 0 23 6 20.6897 CMYA5 0 genome.wustl.edu 37 5 79028992 79028992 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79028992 79028992 T G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.4404 p.V1468 0.017 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 92 0 0 71 45 38.7931 CMYA5 0 genome.wustl.edu 37 5 79031392 79031392 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79031392 79031392 T G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6804 p.I2268M 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 118 0 0 97 44 31.2057 CMYA5 0 genome.wustl.edu 37 5 79031470 79031470 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79031470 79031470 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.6882 p.I2294 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 126 0 0 88 49 35.7664 CMYA5 0 genome.wustl.edu 37 5 79032569 79032569 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79032569 79032569 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.7981 p.K2661Q 0.006 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 64 0 0 39 16 29.0909 THBS4 0 genome.wustl.edu 37 5 79378945 79378945 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79378945 79378945 T G SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.2867 p.F956C 0.961 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 135 0 0 67 43 39.0909 ZFYVE16 0 genome.wustl.edu 37 5 79732754 79732754 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79732754 79732754 A G SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.250 p.T84A 0.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 102 0 0 64 37 36.6337 ZFYVE16 0 genome.wustl.edu 37 5 79733028 79733028 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79733028 79733028 T C SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.524 p.V175A 0.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 91 0 0 61 35 36.4583 ZFYVE16 0 genome.wustl.edu 37 5 79746389 79746389 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79746389 79746389 T C SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known silent c.3366 p.Y1122 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 161 0 0 105 54 33.9623 ZFYVE16 0 genome.wustl.edu 37 5 79752310 79752310 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 79752310 79752310 A C SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.3721 p.N1241H 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 73 0 0 69 34 33.0097 MSH3 0 genome.wustl.edu 37 5 80064742 80064742 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 80064742 80064742 G A SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.2173 p.E725K 0.126 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 80 0 0 58 33 36.2637 MSH3 0 genome.wustl.edu 37 5 80109451 80109451 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 80109451 80109451 A C SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.2704 p.K902Q 1.000 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 146 0 0 82 44 34.9206 RASGRF2 0 genome.wustl.edu 37 5 80422905 80422905 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 80422905 80422905 A G SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2609 p.D870G 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 63 0 0 43 21 32.8125 RASGRF2 0 genome.wustl.edu 37 5 80497154 80497154 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 80497154 80497154 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known silent c.2799 p.F933 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 96 0 0 56 32 36.3636 CKMT2 0 genome.wustl.edu 37 5 80559356 80559356 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 80559356 80559356 G A SNP CKMT2 ENST00000254035 human ensembl 74_37 +1 known missense c.1061 p.R354H 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 136 0 0 68 47 40.8696 ACOT12 0 genome.wustl.edu 37 5 80639678 80639678 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 80639678 80639678 C A SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known nonsense c.1003 p.E335* 0.996 NULL pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 78 0 0 44 16 26.6667 RPS23 0 genome.wustl.edu 37 5 81573622 81573622 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 81573622 81573622 T G SNP RPS23 ENST00000296674 human ensembl 74_37 -1 known silent c.54 p.R18 0.719 pfam_Ribosomal_S12/S23,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC ENSG00000186468 136 0 0 62 36 36.7347 VCAN 0 genome.wustl.edu 37 5 82815188 82815188 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 82815188 82815188 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.1063 p.D355N 0.976 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 174 0 0 34 101 74.8148 VCAN 0 genome.wustl.edu 37 5 82832766 82832766 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 82832766 82832766 C T SNP VCAN ENST00000513016 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors VCAN HGNC ENSG00000038427 19 0 0 20 9 31.0345 VCAN 0 genome.wustl.edu 37 5 82833723 82833723 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 82833723 82833723 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.4901 p.S1634Y 0.733 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 87 0 0 48 31 39.2405 VCAN 0 genome.wustl.edu 37 5 82834640 82834640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 82834640 82834640 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.5818 p.E1940K 0.021 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 155 0 0 91 45 33.0882 VCAN 0 genome.wustl.edu 37 5 82834920 82834920 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 82834920 82834920 T G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.6098 p.F2033C 0.000 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 80 0 0 36 18 33.3333 NBPF22P 0 genome.wustl.edu 37 5 85592091 85592091 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 85592091 85592091 A C SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors NBPF22P HGNC ENSG00000205449 9 0 0 5 4 44.4444 RASA1 0 genome.wustl.edu 37 5 86686667 86686667 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 86686667 86686667 A C SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.3111 p.Q1037H 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 76 0 0 39 25 39.0625 TMEM161B 0 genome.wustl.edu 37 5 87498828 87498828 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 87498828 87498828 T C SNP TMEM161B ENST00000296595 human ensembl 74_37 -1 known missense c.865 p.T289A 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 148 0 0 85 39 31.4516 CETN3 0 genome.wustl.edu 37 5 89695264 89695264 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 89695264 89695264 C T SNP CETN3 ENST00000283122 human ensembl 74_37 -1 known missense c.371 p.R124Q 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 77 0 0 57 32 35.9551 LYSMD3 0 genome.wustl.edu 37 5 89814712 89814712 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 89814712 89814712 A G SNP LYSMD3 ENST00000315948 human ensembl 74_37 -1 known missense c.845 p.I282T 0.008 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 140 0 0 89 51 36.4286 GPR98 0 genome.wustl.edu 37 5 89948166 89948166 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 89948166 89948166 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3420 p.I1140M 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 141 0 0 95 47 33.0986 GPR98 0 genome.wustl.edu 37 5 89986685 89986685 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 89986685 89986685 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.6778 p.R2260* 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 26 0 0 24 10 29.4118 GPR98 0 genome.wustl.edu 37 5 90136657 90136657 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 90136657 90136657 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.16874 p.S5625L 0.584 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 123 0 0 63 27 30 ARRDC3 0 genome.wustl.edu 37 5 90669530 90669530 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 90669530 90669530 G A SNP ARRDC3 ENST00000265138 human ensembl 74_37 -1 known nonsense c.1159 p.R387* 1.000 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 137 1 0.724638 81 36 30.7692 ARRDC3 0 genome.wustl.edu 37 5 90678662 90678662 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 90678662 90678662 T C SNP ARRDC3 ENST00000265138 human ensembl 74_37 -1 known missense c.248 p.N83S 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 169 0 0 162 9 5.26316 SEMA5A 0 genome.wustl.edu 37 5 9227037 9227037 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 9227037 9227037 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.376 p.D126N 0.501 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 78 0 0 71 13 15.4762 TTC37 0 genome.wustl.edu 37 5 94863782 94863782 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 94863782 94863782 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.1069 p.A357T 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 99 0 0 72 32 30.7692 SPATA9 0 genome.wustl.edu 37 5 95011265 95011265 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 95011265 95011265 G A SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.229 p.R77C 0.062 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 100 0 0 54 34 38.6364 CAST 0 genome.wustl.edu 37 5 96064902 96064902 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 96064902 96064902 G T SNP CAST ENST00000395813 human ensembl 74_37 +1 known nonsense c.424 p.E142* 1.000 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 58 0 0 41 21 33.871 ERAP1 0 genome.wustl.edu 37 5 96117444 96117444 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 96117444 96117444 T G SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.2400 p.Q800H 0.019 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 126 0 0 86 35 28.9256 RGMB 0 genome.wustl.edu 37 5 98129003 98129003 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 98129003 98129003 G A SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.983 p.R328H 1.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 42 0 0 25 8 24.2424 CHD1 0 genome.wustl.edu 37 5 98209305 98209305 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 98209305 98209305 T C SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.3563 p.E1188G 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 65 0 0 57 24 29.6296 MCHR2 0 genome.wustl.edu 37 6 100395798 100395798 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 100395798 100395798 C A SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known missense c.232 p.A78S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 128 0 0 58 28 32.5581 ASCC3 0 genome.wustl.edu 37 6 101091945 101091945 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 101091945 101091945 T C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3694 p.I1232V 1.000 pfam_Sec63-dom,superfamily_P-loop_NTPase,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 119 0 0 74 49 39.8374 ASCC3 0 genome.wustl.edu 37 6 101166000 101166000 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 101166000 101166000 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.2030 p.R677Q 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 77 0 0 44 25 36.2319 ASCC3 0 genome.wustl.edu 37 6 101246682 101246682 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 101246682 101246682 A G SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.1302 p.N434 0.998 superfamily_P-loop_NTPase pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 105 0 0 50 30 37.5 ASCC3 0 genome.wustl.edu 37 6 101248368 101248368 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 101248368 101248368 T G SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.935 p.K312T 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 16 0 0 16 12 42.8571 GRIK2 0 genome.wustl.edu 37 6 102074270 102074270 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 102074270 102074270 C A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.299 p.S100Y 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 403 0 0 206 120 36.8098 GRIK2 0 genome.wustl.edu 37 6 102134199 102134199 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 102134199 102134199 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.922 p.D308N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 86 0 0 85 28 24.7788 HACE1 0 genome.wustl.edu 37 6 105224916 105224916 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 105224916 105224916 G A SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.1748 p.A583V 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 49 0 0 25 26 50.9804 HACE1 0 genome.wustl.edu 37 6 105239404 105239404 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 105239404 105239404 T G SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.1049 p.K350T 1.000 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 141 0 0 93 52 35.8621 BVES 0 genome.wustl.edu 37 6 105577274 105577274 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 105577274 105577274 G T SNP BVES ENST00000314641 human ensembl 74_37 -1 known missense c.331 p.L111I 1.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 48 0 0 26 22 45.8333 POPDC3 0 genome.wustl.edu 37 6 105606497 105606497 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 105606497 105606497 T G SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.724 p.K242Q 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 219 0 0 155 90 36.7347 PREP 0 genome.wustl.edu 37 6 105816843 105816843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 105816843 105816843 C T SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.652 p.D218N 0.544 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 130 0 0 119 47 28.3133 GCNT2 0 genome.wustl.edu 37 6 10586905 10586905 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 10586905 10586905 G A SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known missense c.683 p.R228Q 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 126 0 0 75 36 32.4324 AIM1 0 genome.wustl.edu 37 6 107000109 107000109 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 107000109 107000109 C A SNP AIM1 ENST00000487681 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AIM1 HGNC ENSG00000112297 20 0 0 6 6 50 PDSS2 0 genome.wustl.edu 37 6 107780297 107780297 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 107780297 107780297 A G SNP PDSS2 ENST00000369037 human ensembl 74_37 -1 known missense c.193 p.S65P 1.000 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 94 0 0 52 24 31.5789 NR2E1 0 genome.wustl.edu 37 6 108499413 108499413 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 108499413 108499413 C T SNP NR2E1 ENST00000368986 human ensembl 74_37 +1 known missense c.610 p.P204S 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 96 0 0 52 19 26.7606 GCM2 0 genome.wustl.edu 37 6 10876691 10876691 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 10876691 10876691 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.443 p.A148V 0.955 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 84 0 0 36 18 33.3333 ARMC2 0 genome.wustl.edu 37 6 109197433 109197433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 109197433 109197433 C T SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.551 p.A184V 0.092 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 69 0 0 61 28 31.4607 ARMC2 0 genome.wustl.edu 37 6 109286202 109286202 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 109286202 109286202 G T SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.2305 p.D769Y 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 176 0 0 139 75 35.0467 ZBTB24 0 genome.wustl.edu 37 6 109787482 109787482 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 109787482 109787482 C T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1666 p.V556I 0.999 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 160 0 0 93 40 30.0752 AK9 0 genome.wustl.edu 37 6 109814771 109814771 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 109814771 109814771 A C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.5537 p.F1846C 1.000 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 83 0 0 64 5 7.24638 AK9 0 genome.wustl.edu 37 6 109816641 109816641 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 109816641 109816641 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.5318 p.S1773L 0.208 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 61 0 0 42 17 28.8136 AK9 0 genome.wustl.edu 37 6 109820263 109820263 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 109820263 109820263 G T SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.5030 p.S1677Y 0.643 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 40 0 0 28 7 20 FIG4 0 genome.wustl.edu 37 6 110048403 110048403 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 110048403 110048403 C T SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known silent c.381 p.V127 0.688 pfam_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 193 0 0 141 52 26.943 WASF1 0 genome.wustl.edu 37 6 110424718 110424718 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 110424718 110424718 A C SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known silent c.756 p.L252 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 105 0 0 75 37 33.0357 ERVFRD-1 0 genome.wustl.edu 37 6 11104843 11104843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 11104843 11104843 C T SNP ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known missense c.701 p.R234Q 0.861 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 79 0 0 42 16 27.5862 GTF3C6 0 genome.wustl.edu 37 6 111288852 111288852 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111288852 111288852 G T SNP GTF3C6 ENST00000329970 human ensembl 74_37 +1 known missense c.501 p.E167D 0.103 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 164 0 0 95 51 34.9315 SLC16A10 0 genome.wustl.edu 37 6 111540115 111540115 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111540115 111540115 C T SNP SLC16A10 ENST00000368851 human ensembl 74_37 +1 known silent c.1185 p.F395 0.996 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 231 0 0 114 58 33.7209 REV3L 0 genome.wustl.edu 37 6 111621065 111621065 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111621065 111621065 A G SNP REV3L ENST00000462119 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors REV3L HGNC ENSG00000009413 21 0 0 9 8 47.0588 REV3L 0 genome.wustl.edu 37 6 111680142 111680142 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111680142 111680142 C A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.6955 p.D2319Y 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 122 0 0 72 39 35.1351 REV3L 0 genome.wustl.edu 37 6 111694807 111694807 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111694807 111694807 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4751 p.R1584Q 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 325 0 0 209 104 33.2268 REV3L 0 genome.wustl.edu 37 6 111695509 111695509 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111695509 111695509 T C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4049 p.E1350G 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 97 0 0 92 59 39.0728 REV3L 0 genome.wustl.edu 37 6 111709117 111709117 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111709117 111709117 C A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known splice_site c.948-1 e9-1 1.000 - - - no_errors REV3L HGNC ENSG00000009413 61 0 0 39 22 36.0656 FYN 0 genome.wustl.edu 37 6 111995824 111995824 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 111995824 111995824 A C SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1283 p.F428C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 188 0 0 103 50 32.6797 WISP3 0 genome.wustl.edu 37 6 112389552 112389552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 112389552 112389552 G A SNP WISP3 ENST00000361714 human ensembl 74_37 +1 known missense c.788 p.R263K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 55 0 0 29 8 21.6216 TUBE1 0 genome.wustl.edu 37 6 112397530 112397530 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 112397530 112397530 T C SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known missense c.631 p.N211D 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 78 0 0 65 23 26.1364 LAMA4 0 genome.wustl.edu 37 6 112496523 112496523 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 112496523 112496523 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1349 p.A450V 0.996 pfam_Laminin_I pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 129 0 0 81 43 34.6774 COL10A1 0 genome.wustl.edu 37 6 116441409 116441409 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 116441409 116441409 T C SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.1870 p.T624A 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 147 0 0 68 51 42.8571 COL10A1 0 genome.wustl.edu 37 6 116441517 116441517 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 116441517 116441517 T G SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.1762 p.I588L 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 130 0 0 58 31 34.8315 DSE 0 genome.wustl.edu 37 6 116720368 116720368 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 116720368 116720368 C T SNP DSE ENST00000540275 human ensembl 74_37 +1 known nonsense c.532 p.R178* 1.000 NULL NULL - no_errors DSE HGNC ENSG00000111817 55 0 0 28 21 42.8571 FAM162B 0 genome.wustl.edu 37 6 117086337 117086337 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117086337 117086337 G A SNP FAM162B ENST00000368557 human ensembl 74_37 -1 known missense c.254 p.S85L 0.734 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 106 0 0 58 18 23.6842 GPRC6A 0 genome.wustl.edu 37 6 117127925 117127925 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117127925 117127925 G A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.943 p.P315S 0.128 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 137 0 0 111 44 28.3871 RFX6 0 genome.wustl.edu 37 6 117203536 117203536 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117203536 117203536 C T SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.511 p.R171C 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 59 0 0 45 13 22.4138 RFX6 0 genome.wustl.edu 37 6 117203581 117203581 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117203581 117203581 G A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.556 p.G186S 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 60 0 0 55 17 23.6111 ROS1 0 genome.wustl.edu 37 6 117641051 117641051 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117641051 117641051 C T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.5920 p.E1974K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 144 0 0 109 32 22.695 ROS1 0 genome.wustl.edu 37 6 117647545 117647545 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117647545 117647545 T G SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.5399 p.N1800T 0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 36 0 0 26 16 38.0952 ROS1 0 genome.wustl.edu 37 6 117658374 117658374 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 117658374 117658374 C A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known nonsense c.5209 p.E1737* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 61 0 0 49 24 32.8767 SLC35F1 0 genome.wustl.edu 37 6 118588164 118588164 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 118588164 118588164 G T SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known missense c.484 p.D162Y 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 401 0 0 218 88 28.7582 CEP85L 0 genome.wustl.edu 37 6 118844970 118844970 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 118844970 118844970 G A SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.1143 p.I381 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 38 0 0 46 15 24.5902 ASF1A 0 genome.wustl.edu 37 6 119221986 119221986 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 119221986 119221986 A C SNP ASF1A ENST00000229595 human ensembl 74_37 +1 known missense c.165 p.Q55H 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1A HGNC ENSG00000111875 174 0 0 110 59 34.9112 ASF1A 0 genome.wustl.edu 37 6 119226904 119226904 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 119226904 119226904 G T SNP ASF1A ENST00000229595 human ensembl 74_37 +1 known nonsense c.313 p.E105* 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1A HGNC ENSG00000111875 163 0 0 53 82 60.7407 FAM184A 0 genome.wustl.edu 37 6 119345901 119345901 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 119345901 119345901 T G SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.237 p.E79D 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 52 0 0 50 19 27.5362 MAN1A1 0 genome.wustl.edu 37 6 119510876 119510876 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 119510876 119510876 A G SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.1499 p.L500P 0.984 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 149 0 0 95 56 37.0861 HIVEP1 0 genome.wustl.edu 37 6 12120209 12120209 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 12120209 12120209 A C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.181 p.K61Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 165 0 0 101 53 34.4156 HIVEP1 0 genome.wustl.edu 37 6 12120319 12120319 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 12120319 12120319 G T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.291 p.Q97H 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 143 0 0 84 50 37.3134 HIVEP1 0 genome.wustl.edu 37 6 12121176 12121176 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 12121176 12121176 T G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.1148 p.V383G 0.944 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 317 0 0 160 86 34.9593 HIVEP1 0 genome.wustl.edu 37 6 12122667 12122667 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 12122667 12122667 T C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2639 p.V880A 0.978 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 180 0 0 99 49 33.1081 TBC1D32 0 genome.wustl.edu 37 6 121642797 121642797 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 121642797 121642797 C A SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known missense c.299 p.R100I 0.904 NULL NULL - no_errors TBC1D32 HGNC ENSG00000146350 269 0 0 142 68 32.381 HSF2 0 genome.wustl.edu 37 6 122753198 122753198 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 122753198 122753198 G A SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.1444 p.E482K 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 161 0 0 107 47 30.5195 SMPDL3A 0 genome.wustl.edu 37 6 123124953 123124953 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 123124953 123124953 A C SNP SMPDL3A ENST00000368440 human ensembl 74_37 +1 known missense c.713 p.N238T 0.860 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 118 0 0 99 37 27.2059 TRDN 0 genome.wustl.edu 37 6 123699033 123699033 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 123699033 123699033 C A SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.1197 p.K399N 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 10 0 0 10 4 28.5714 TPD52L1 0 genome.wustl.edu 37 6 125550384 125550384 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 125550384 125550384 A C SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.256 p.S86R 0.952 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 113 0 0 86 6 6.52174 RSPO3 0 genome.wustl.edu 37 6 127469858 127469858 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 127469858 127469858 T G SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known missense c.163 p.L55V 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 107 0 0 72 30 29.4118 RNF146 0 genome.wustl.edu 37 6 127608756 127608756 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 127608756 127608756 G A SNP RNF146 ENST00000368314 human ensembl 74_37 +1 known missense c.998 p.R333Q 0.064 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 131 0 0 82 32 28.0702 KIAA0408 0 genome.wustl.edu 37 6 127765306 127765306 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 127765306 127765306 C A SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.2033 p.R678I 0.079 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 78 0 0 37 14 27.451 KIAA0408 0 genome.wustl.edu 37 6 127770989 127770989 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 127770989 127770989 G A SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel nonsense c.556 p.R186* 0.990 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 136 0 0 97 41 29.7101 SOGA3 0 genome.wustl.edu 37 6 127797590 127797590 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 127797590 127797590 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.1581 p.C527 1.000 pfam_SOGA pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 113 0 0 64 43 40.1869 THEMIS 0 genome.wustl.edu 37 6 128150816 128150816 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 128150816 128150816 C A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known nonsense c.514 p.E172* 0.999 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 119 0 0 100 41 29.078 THEMIS 0 genome.wustl.edu 37 6 128176253 128176253 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 128176253 128176253 T C SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.172 p.K58E 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 68 0 0 46 28 37.8378 PHACTR1 0 genome.wustl.edu 37 6 12933942 12933942 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 12933942 12933942 G A SNP PHACTR1 ENST00000379348 human ensembl 74_37 +1 known missense c.328 p.E110K 0.000 NULL NULL - no_errors PHACTR1 HGNC ENSG00000112137 134 0 0 75 41 35.3448 PHACTR1 0 genome.wustl.edu 37 6 12934078 12934078 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 12934078 12934078 G T SNP PHACTR1 ENST00000379348 human ensembl 74_37 +1 known missense c.464 p.R155I 0.008 NULL NULL - no_errors PHACTR1 HGNC ENSG00000112137 44 0 0 25 16 39.0244 LAMA2 0 genome.wustl.edu 37 6 129380932 129380932 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 129380932 129380932 G T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.287 p.R96I 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N 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 54 0 0 54 15 21.7391 LAMA2 0 genome.wustl.edu 37 6 129826403 129826403 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 129826403 129826403 G T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.8606 p.R2869I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,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 98 0 0 59 24 28.9157 TMEM244 0 genome.wustl.edu 37 6 130154651 130154651 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 130154651 130154651 A C SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known missense c.273 p.D91E 1.000 pfam_Integral_membrane_SYS1-rel pfam_Integral_membrane_SYS1-rel - no_errors TMEM244 HGNC ENSG00000203756 102 0 0 76 47 38.2114 SAMD3 0 genome.wustl.edu 37 6 130497126 130497126 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 130497126 130497126 G A SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.682 p.R228C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 107 0 0 66 42 38.8889 SAMD3 0 genome.wustl.edu 37 6 130505666 130505666 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 130505666 130505666 C T SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known silent c.486 p.E162 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 78 0 0 30 19 38.7755 TMEM200A 0 genome.wustl.edu 37 6 130762121 130762121 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 130762121 130762121 A G SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.554 p.Y185C 0.899 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 109 0 0 58 38 39.5833 EPB41L2 0 genome.wustl.edu 37 6 131276416 131276416 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 131276416 131276416 T G SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.534 p.K178N 0.014 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 173 0 0 93 59 38.8158 MED23 0 genome.wustl.edu 37 6 131911481 131911481 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 131911481 131911481 C A SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3806 p.R1269I 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 51 0 0 44 18 29.0323 ENPP1 0 genome.wustl.edu 37 6 132179855 132179855 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 132179855 132179855 A C SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.763 p.K255Q 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 43 0 0 43 19 30.6452 MOXD1 0 genome.wustl.edu 37 6 132641802 132641802 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 132641802 132641802 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1331 p.R444H 0.994 superfamily_PHM/PNGase_F_dom 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 MOXD1 HGNC ENSG00000079931 40 0 0 25 9 26.4706 EYA4 0 genome.wustl.edu 37 6 133827290 133827290 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 133827290 133827290 T G SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.1238 p.I413S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 70 0 0 50 30 37.5 BCLAF1 0 genome.wustl.edu 37 6 136589344 136589344 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 136589344 136589344 C A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known nonsense c.2353 p.E785* 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 223 0 0 155 43 21.7172 BCLAF1 0 genome.wustl.edu 37 6 136590593 136590593 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 136590593 136590593 T G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.2201 p.K734T 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 67 0 0 65 22 25.2874 BCLAF1 0 genome.wustl.edu 37 6 136597477 136597477 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 136597477 136597477 C A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1186 p.D396Y 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 715 1 0.139665 562 93 14.1985 MAP3K5 0 genome.wustl.edu 37 6 136888937 136888937 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 136888937 136888937 T C SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.3593 p.H1198R 0.996 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 93 0 0 50 28 35.8974 MAP3K5 0 genome.wustl.edu 37 6 136904864 136904864 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 136904864 136904864 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.3240 p.P1080 0.170 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 124 1 0.8 61 36 37.1134 MAP3K5 0 genome.wustl.edu 37 6 136923031 136923031 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 136923031 136923031 A G SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.2766 p.D922 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 93 0 0 55 35 38.8889 KIAA1244 0 genome.wustl.edu 37 6 138644882 138644882 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 138644882 138644882 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.4841 p.A1614V 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 63 0 0 38 17 30.9091 KIAA1244 0 genome.wustl.edu 37 6 138655224 138655224 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 138655224 138655224 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.5241 p.T1747 0.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 72 0 0 37 12 24.4898 REPS1 0 genome.wustl.edu 37 6 139241371 139241371 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 139241371 139241371 G A SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known silent c.1509 p.F503 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 83 0 0 68 50 42.3729 TXLNB 0 genome.wustl.edu 37 6 139564361 139564361 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 139564361 139564361 C T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1357 p.E453K 0.981 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 98 0 0 38 17 30.9091 HIVEP2 0 genome.wustl.edu 37 6 143082678 143082678 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 143082678 143082678 G T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.5543 p.S1848Y 1.000 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 180 0 0 122 54 30.6818 PHACTR2 0 genome.wustl.edu 37 6 144086472 144086472 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 144086472 144086472 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.769 p.R257C 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 153 0 0 108 50 31.6456 PLAGL1 0 genome.wustl.edu 37 6 144263068 144263068 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 144263068 144263068 C T SNP PLAGL1 ENST00000354765 human ensembl 74_37 -1 known silent c.885 p.P295 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC ENSG00000118495 140 0 0 62 32 34.0426 UTRN 0 genome.wustl.edu 37 6 144768371 144768371 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 144768371 144768371 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.1639 p.E547K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 28 0 0 32 12 27.2727 UTRN 0 genome.wustl.edu 37 6 144808711 144808711 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 144808711 144808711 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.3850 p.A1284T 0.987 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 172 0 0 91 49 35 UTRN 0 genome.wustl.edu 37 6 144860536 144860536 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 144860536 144860536 A C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.6476 p.K2159T 0.728 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 73 0 0 48 26 35.1351 UTRN 0 genome.wustl.edu 37 6 144869983 144869983 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 144869983 144869983 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.6803 p.R2268Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 43 0 0 29 24 45.283 FBXO30 0 genome.wustl.edu 37 6 146126324 146126324 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 146126324 146126324 T G SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known silent c.1218 p.V406 0.330 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 285 0 0 182 77 29.7297 SHPRH 0 genome.wustl.edu 37 6 146266673 146266673 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 146266673 146266673 G A SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known silent c.1422 p.Y474 0.642 pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15 pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 68 0 0 47 21 30.8824 KATNBL1P6 0 genome.wustl.edu 37 6 147123923 147123923 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 147123923 147123923 G T SNP KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 35 0 0 27 14 34.1463 KATNBL1P6 0 genome.wustl.edu 37 6 147124649 147124649 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 147124649 147124649 G A SNP KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 104 0 0 69 28 28.866 KATNBL1P6 0 genome.wustl.edu 37 6 147124761 147124761 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 147124761 147124761 C A SNP KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 42 0 0 28 12 30 STXBP5 0 genome.wustl.edu 37 6 147680279 147680279 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 147680279 147680279 G T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known nonsense c.2365 p.E789* 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 73 0 0 51 23 31.0811 STXBP5 0 genome.wustl.edu 37 6 147684753 147684753 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 147684753 147684753 C T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.2828 p.S943L 1.000 pfam_Lgl_C_dom,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 113 0 0 83 49 37.1212 STXBP5 0 genome.wustl.edu 37 6 147703987 147703987 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 147703987 147703987 C T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known silent c.3267 p.G1089 0.455 pfscan_Synaptobrevin pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 199 0 0 100 52 34.2105 SASH1 0 genome.wustl.edu 37 6 148865654 148865654 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 148865654 148865654 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.3048 p.A1016 0.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 78 0 0 13 25 65.7895 UST 0 genome.wustl.edu 37 6 149395372 149395372 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 149395372 149395372 C T SNP UST ENST00000466695 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UST HGNC ENSG00000111962 18 0 0 4 5 55.5556 SUMO4 0 genome.wustl.edu 37 6 149721599 149721599 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 149721599 149721599 A G SNP SUMO4 ENST00000326669 human ensembl 74_37 +1 known silent c.72 p.G24 0.997 pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors SUMO4 HGNC ENSG00000177688 133 0 0 55 41 42.7083 PPIL4 0 genome.wustl.edu 37 6 149862082 149862082 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 149862082 149862082 G A SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known missense c.317 p.S106F 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 158 0 0 52 47 47.4747 KATNA1 0 genome.wustl.edu 37 6 149954037 149954037 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 149954037 149954037 T G SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.178 p.N60H 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 84 0 0 20 32 61.5385 LATS1 0 genome.wustl.edu 37 6 149983146 149983146 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 149983146 149983146 T G SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.3112 p.N1038H 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 143 0 0 82 20 19.6078 LATS1 0 genome.wustl.edu 37 6 149983213 149983213 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 149983213 149983213 G T SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.3045 p.F1015L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 165 0 0 41 46 52.8736 PLEKHG1 0 genome.wustl.edu 37 6 151161391 151161391 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 151161391 151161391 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.3517 p.A1173T 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 230 0 0 53 49 48.0392 MTHFD1L 0 genome.wustl.edu 37 6 151239797 151239797 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 151239797 151239797 G A SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.977 p.R326Q 1.000 NULL pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 144 0 0 29 44 60.274 AKAP12 0 genome.wustl.edu 37 6 151672532 151672532 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 151672532 151672532 G T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.3006 p.M1002I 1.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 77 0 0 16 26 61.9048 CCDC170 0 genome.wustl.edu 37 6 151865837 151865837 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 151865837 151865837 G A SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.574 p.D192N 0.641 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 107 0 0 35 32 47.7612 CCDC170 0 genome.wustl.edu 37 6 151894465 151894465 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 151894465 151894465 G A SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.931 p.A311T 1.000 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 115 0 0 60 10 14.2857 SYNE1 0 genome.wustl.edu 37 6 152576134 152576134 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 152576134 152576134 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.19351 p.R6451G 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 37 0 0 9 12 57.1429 SYNE1 0 genome.wustl.edu 37 6 152631869 152631869 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 152631869 152631869 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16850 p.R5617Q 0.548 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 55 0 0 19 11 36.6667 SYNE1 0 genome.wustl.edu 37 6 152725425 152725425 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 152725425 152725425 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.6748 p.R2250 0.500 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 93 0 0 37 28 43.0769 SYNE1 0 genome.wustl.edu 37 6 152792886 152792886 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 152792886 152792886 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1478 p.S493F 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 88 0 0 24 22 47.8261 SYNE1 0 genome.wustl.edu 37 6 152826458 152826458 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 152826458 152826458 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.656 p.A219V 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 100 0 0 31 33 51.5625 OPRM1 0 genome.wustl.edu 37 6 154360644 154360644 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 154360644 154360644 A G SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.244 p.T82A 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 20 0 0 2 4 66.6667 JARID2 0 genome.wustl.edu 37 6 15501389 15501389 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 15501389 15501389 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2197 p.R733C 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 236 0 0 114 44 27.8481 TFB1M 0 genome.wustl.edu 37 6 155578994 155578994 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 155578994 155578994 A C SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.1017 p.D339E 0.000 NULL pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 125 0 0 34 39 53.4247 FNDC1 0 genome.wustl.edu 37 6 159653106 159653106 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 159653106 159653106 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.1562 p.R521Q 0.015 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 37 0 0 14 16 53.3333 FNDC1 0 genome.wustl.edu 37 6 159653414 159653414 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 159653414 159653414 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.1870 p.A624T 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 76 0 0 13 25 65.7895 TCP1 0 genome.wustl.edu 37 6 160200773 160200773 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 160200773 160200773 A G SNP TCP1 ENST00000321394 human ensembl 74_37 -1 known missense c.1340 p.V447A 0.979 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_alpha pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha - no_errors TCP1 HGNC ENSG00000120438 122 0 0 35 40 53.3333 LPA 0 genome.wustl.edu 37 6 161015117 161015117 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 161015117 161015117 A G SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.3502 p.C1168R 0.324 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 155 0 0 36 53 59.5506 FOXC1 0 genome.wustl.edu 37 6 1610914 1610914 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 1610914 1610914 G T SNP FOXC1 ENST00000380874 human ensembl 74_37 +1 known missense c.234 p.K78N 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 89 0 0 51 31 37.8049 PLG 0 genome.wustl.edu 37 6 161132269 161132269 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 161132269 161132269 T C SNP PLG ENST00000494325 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors PLG HGNC ENSG00000122194 20 0 0 6 11 64.7059 PLG 0 genome.wustl.edu 37 6 161160158 161160158 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 161160158 161160158 G A SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.1936 p.E646K 0.442 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 168 0 0 35 29 45.3125 MAP3K4 0 genome.wustl.edu 37 6 161470677 161470677 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 161470677 161470677 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1373 p.T458M 0.016 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 91 0 0 20 15 42.8571 MAP3K4 0 genome.wustl.edu 37 6 161513055 161513055 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 161513055 161513055 T G SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.3149 p.V1050G 0.972 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 138 0 0 45 56 55.4455 GMPR 0 genome.wustl.edu 37 6 16274705 16274705 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 16274705 16274705 C A SNP GMPR ENST00000259727 human ensembl 74_37 +1 known silent c.525 p.I175 0.996 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 75 0 0 39 17 30.3571 C6orf118 0 genome.wustl.edu 37 6 165713944 165713944 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 165713944 165713944 T G SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.785 p.Q262P 0.004 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 281 0 0 67 72 51.7986 RNASET2 0 genome.wustl.edu 37 6 167356668 167356668 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 167356668 167356668 A C SNP RNASET2 ENST00000509073 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RNASET2 HGNC ENSG00000026297 10 0 0 4 5 55.5556 KIF25 0 genome.wustl.edu 37 6 168440763 168440763 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 168440763 168440763 G A SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known silent c.513 p.S171 0.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 159 1 0.625 35 29 45.3125 THBS2 0 genome.wustl.edu 37 6 169634789 169634789 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 169634789 169634789 A C SNP THBS2 ENST00000461848 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors THBS2 HGNC ENSG00000186340 55 0 0 13 11 45.8333 DLL1 0 genome.wustl.edu 37 6 170592125 170592125 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 170592125 170592125 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.2117 p.S706L 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 240 0 0 63 42 40 NUP153 0 genome.wustl.edu 37 6 17648090 17648090 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 17648090 17648090 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.1673 p.F558C 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 159 0 0 96 49 33.7931 DEK 0 genome.wustl.edu 37 6 18256686 18256686 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 18256686 18256686 C T SNP DEK ENST00000397239 human ensembl 74_37 -1 known missense c.358 p.V120M 1.000 NULL pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 54 0 0 35 17 32.6923 MIR548A1 0 genome.wustl.edu 37 6 18572108 18572108 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 18572108 18572108 T C SNP MIR548A1 ENST00000385041 human ensembl 74_37 +1 known rna NULL NULL 0.071 - - - no_errors MIR548A1 HGNC ENSG00000207775 89 0 0 52 31 37.3494 MBOAT1 0 genome.wustl.edu 37 6 20118675 20118675 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 20118675 20118675 T G SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.1004 p.K335T 0.999 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 64 0 0 64 5 7.24638 E2F3 0 genome.wustl.edu 37 6 20480168 20480168 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 20480168 20480168 G A SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known missense c.485 p.R162Q 0.993 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 24 0 0 20 11 35.4839 E2F3 0 genome.wustl.edu 37 6 20483077 20483077 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 20483077 20483077 G A SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known silent c.810 p.E270 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 101 0 0 63 20 24.0964 NRSN1 0 genome.wustl.edu 37 6 24145834 24145834 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 24145834 24145834 G A SNP NRSN1 ENST00000378491 human ensembl 74_37 +1 known missense c.248 p.G83D 1.000 NULL NULL - no_errors NRSN1 HGNC ENSG00000152954 175 1 0.568182 80 47 37.0079 GPLD1 0 genome.wustl.edu 37 6 24489651 24489651 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 24489651 24489651 A G SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.89 p.V30A 0.329 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 72 0 0 46 23 33.3333 KIAA0319 0 genome.wustl.edu 37 6 24596714 24596714 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 24596714 24596714 T C SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.188 p.D63G 1.000 smart_MANSC_N,pfscan_MANSC pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 98 0 0 51 24 32 GMNN 0 genome.wustl.edu 37 6 24784681 24784681 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 24784681 24784681 G T SNP GMNN ENST00000230056 human ensembl 74_37 +1 known nonsense c.367 p.E123* 1.000 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 78 0 0 46 10 17.8571 SCGN 0 genome.wustl.edu 37 6 25682209 25682209 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 25682209 25682209 C T SNP SCGN ENST00000377961 human ensembl 74_37 +1 known missense c.502 p.R168W 0.975 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SCGN HGNC ENSG00000079689 54 0 0 47 13 21.6667 HFE 0 genome.wustl.edu 37 6 26092943 26092943 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 26092943 26092943 T C SNP HFE ENST00000357618 human ensembl 74_37 +1 known missense c.647 p.V216A 0.000 pfscan_Ig-like_dom 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 HFE HGNC ENSG00000010704 228 0 0 118 56 32.1839 HIST1H1E 0 genome.wustl.edu 37 6 26157150 26157150 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 26157150 26157150 G A SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.532 p.A178T 1.000 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 32 0 0 21 8 27.5862 HIST1H3F 0 genome.wustl.edu 37 6 26250748 26250748 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 26250748 26250748 C A SNP HIST1H3F ENST00000446824 human ensembl 74_37 -1 known missense c.86 p.S29I 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 166 0 0 92 31 25.2033 BTN2A3P 0 genome.wustl.edu 37 6 26428927 26428927 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 26428927 26428927 T G SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors BTN2A3P HGNC ENSG00000124549 206 0 0 89 43 32.5758 MYLK4 0 genome.wustl.edu 37 6 2671570 2671570 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 2671570 2671570 G A SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known missense c.1132 p.R378C 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK4 HGNC ENSG00000145949 58 0 0 41 9 18 WRNIP1 0 genome.wustl.edu 37 6 2770510 2770510 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 2770510 2770510 C T SNP WRNIP1 ENST00000380773 human ensembl 74_37 +1 known nonsense c.1171 p.R391* 1.000 superfamily_P-loop_NTPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 142 0 0 66 47 41.5929 ZSCAN12P1 0 genome.wustl.edu 37 6 28060394 28060394 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 28060394 28060394 A G SNP ZSCAN12P1 ENST00000529104 human ensembl 74_37 +1 known rna NULL NULL 0.074 - - - no_errors ZSCAN12P1 HGNC ENSG00000219891 30 0 0 11 3 21.4286 ZSCAN16 0 genome.wustl.edu 37 6 28097700 28097700 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 28097700 28097700 G T SNP ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known missense c.1019 p.R340I 0.980 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 63 0 0 30 15 33.3333 GPX5 0 genome.wustl.edu 37 6 28499606 28499606 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 28499606 28499606 G A SNP GPX5 ENST00000412168 human ensembl 74_37 +1 known missense c.293 p.G98D 1.000 pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 309 0 0 180 92 33.8235 SCAND3 0 genome.wustl.edu 37 6 28540442 28540442 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 28540442 28540442 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.3224 p.R1075Q 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 113 0 0 69 33 32.3529 SCAND3 0 genome.wustl.edu 37 6 28541080 28541080 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 28541080 28541080 C A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.2586 p.K862N 0.996 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 226 0 0 107 62 36.6864 SCAND3 0 genome.wustl.edu 37 6 28541478 28541478 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 28541478 28541478 G T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.2188 p.H730N 0.860 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 44 0 0 39 16 29.0909 OR2B3 0 genome.wustl.edu 37 6 29054810 29054810 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 29054810 29054810 G A SNP OR2B3 ENST00000377173 human ensembl 74_37 -1 known silent c.216 p.C72 0.008 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 OR2B3 HGNC ENSG00000204703 145 0 0 99 6 5.71429 OR11A1 0 genome.wustl.edu 37 6 29394947 29394947 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 29394947 29394947 C T SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.472 p.G158R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 85 0 0 39 34 46.5753 OR10C1 0 genome.wustl.edu 37 6 29408578 29408578 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 29408578 29408578 G A SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known silent c.786 p.K262 0.169 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 376 0 0 200 91 31.2715 MAS1L 0 genome.wustl.edu 37 6 29455512 29455512 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 29455512 29455512 C A SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known silent c.168 p.T56 0.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 102 0 0 54 27 33.3333 SERPINB6 0 genome.wustl.edu 37 6 2948628 2948628 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 2948628 2948628 G A SNP SERPINB6 ENST00000335686 human ensembl 74_37 -1 known silent c.1035 p.F345 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 82 0 0 59 24 28.9157 SNORD32B 0 genome.wustl.edu 37 6 29550043 29550043 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 29550043 29550043 A G SNP SNORD32B ENST00000364460 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors SNORD32B HGNC ENSG00000201330 80 0 0 39 14 26.4151 OR2H2 0 genome.wustl.edu 37 6 29556646 29556646 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 29556646 29556646 C T SNP OR2H2 ENST00000383640 human ensembl 74_37 +1 known missense c.925 p.L309F 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 72 0 0 48 18 27.2727 TRIM10 0 genome.wustl.edu 37 6 30121843 30121843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30121843 30121843 C T SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.1349 p.R450Q 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 90 0 0 55 28 33.7349 RPP21 0 genome.wustl.edu 37 6 30314232 30314232 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30314232 30314232 G A SNP RPP21 ENST00000428040 human ensembl 74_37 +1 known missense c.334 p.V112I 0.986 pfam_Rpr2 pfam_Rpr2 - no_errors RPP21 HGNC ENSG00000241370 97 0 0 52 24 31.5789 HLA-E 0 genome.wustl.edu 37 6 30458020 30458020 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30458020 30458020 C A SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.338 p.S113Y 0.327 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 87 0 0 40 18 31.0345 PPP1R10 0 genome.wustl.edu 37 6 30577694 30577694 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30577694 30577694 C A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known nonsense c.28 p.E10* 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 123 0 0 50 27 35.0649 PPP1R18 0 genome.wustl.edu 37 6 30644983 30644983 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30644983 30644983 T G SNP PPP1R18 ENST00000467662 human ensembl 74_37 -1 known rna NULL NULL 0.804 - - - no_errors PPP1R18 HGNC ENSG00000146112 68 0 0 25 12 32.4324 MDC1 0 genome.wustl.edu 37 6 30673264 30673264 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30673264 30673264 T G SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.3696 p.K1232N 0.015 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 420 0 0 219 130 37.2493 DDR1 0 genome.wustl.edu 37 6 30863249 30863249 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30863249 30863249 G A SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.1582 p.G528S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 306 1 0.325733 135 78 36.6197 VARS2 0 genome.wustl.edu 37 6 30884684 30884684 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 30884684 30884684 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.791 p.R264Q 0.401 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 209 0 0 83 49 37.1212 CCHCR1 0 genome.wustl.edu 37 6 31125291 31125291 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 31125291 31125291 A G SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known silent c.87 p.D29 0.924 NULL pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 72 0 0 49 5 9.25926 HCP5 0 genome.wustl.edu 37 6 31431853 31431853 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 31431853 31431853 A C SNP HCP5 ENST00000414046 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors HCP5 HGNC ENSG00000206337 146 0 0 72 25 25.7732 ATP6V1G2 0 genome.wustl.edu 37 6 31514407 31514407 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 31514407 31514407 A G SNP ATP6V1G2 ENST00000483251 human ensembl 74_37 -1 known splice_site c.1+2 e0+2 0.000 - - - no_errors ATP6V1G2 HGNC ENSG00000213760 35 0 0 18 12 40 C2 0 genome.wustl.edu 37 6 31901481 31901481 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 31901481 31901481 G A SNP C2 ENST00000411571 human ensembl 74_37 +1 known missense c.32 p.R11Q 0.000 NULL NULL - no_errors C2 HGNC ENSG00000166278 108 0 0 54 26 32.5 TNXB 0 genome.wustl.edu 37 6 32036213 32036213 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 32036213 32036213 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.6174 p.F2058 0.947 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 85 0 0 43 15 25.8621 TNXB 0 genome.wustl.edu 37 6 32047025 32047025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 32047025 32047025 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4160 p.S1387L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 215 1 0.462963 80 40 33.3333 TNXB 0 genome.wustl.edu 37 6 32065029 32065029 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 32065029 32065029 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.601 p.R201C 0.996 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 37 0 0 17 8 32 PPT2 0 genome.wustl.edu 37 6 32130710 32130710 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 32130710 32130710 G T SNP PPT2 ENST00000361568 human ensembl 74_37 +1 known nonsense c.910 p.E304* 1.000 NULL pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 316 0 0 173 78 31.0757 AGER 0 genome.wustl.edu 37 6 32150740 32150740 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 32150740 32150740 G A SNP AGER ENST00000375070 human ensembl 74_37 -1 known missense c.662 p.S221L 0.558 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AGER HGNC ENSG00000204305 122 0 0 54 32 37.2093 C6orf10 0 genome.wustl.edu 37 6 32307386 32307386 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 32307386 32307386 C A SNP C6orf10 ENST00000447241 human ensembl 74_37 -1 known nonsense c.379 p.E127* 0.013 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 135 0 0 126 51 28.8136 COL11A2 0 genome.wustl.edu 37 6 33132248 33132248 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 33132248 33132248 G T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.4866 p.F1622L 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 8 0 0 3 3 50 RGL2 0 genome.wustl.edu 37 6 33260034 33260034 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 33260034 33260034 C T SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.2179 p.D727N 0.997 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 155 0 0 68 26 27.6596 DAXX 0 genome.wustl.edu 37 6 33287518 33287518 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 33287518 33287518 T C SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.1579 p.I527V 0.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 141 0 0 71 37 34.2593 ZBTB9 0 genome.wustl.edu 37 6 33423510 33423510 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 33423510 33423510 G A SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known silent c.633 p.V211 0.466 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 125 0 0 70 35 33.3333 C6orf1 0 genome.wustl.edu 37 6 34214882 34214882 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 34214882 34214882 T C SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known missense c.64 p.T22A 0.990 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 235 1 0.423729 106 41 27.8912 UHRF1BP1 0 genome.wustl.edu 37 6 34802027 34802027 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 34802027 34802027 G A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.372 p.G124 0.768 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 54 0 0 35 14 28.5714 UHRF1BP1 0 genome.wustl.edu 37 6 34840168 34840168 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 34840168 34840168 A C SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.4276 p.K1426Q 0.873 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 87 0 0 54 23 29.8701 ANKS1A 0 genome.wustl.edu 37 6 34953007 34953007 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 34953007 34953007 G A SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known silent c.1161 p.T387 0.233 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 123 0 0 65 20 23.5294 DUSP22 0 genome.wustl.edu 37 6 350871 350871 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 350871 350871 T C SNP DUSP22 ENST00000604988 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors DUSP22 HGNC ENSG00000112679 130 0 0 96 13 11.9266 SCUBE3 0 genome.wustl.edu 37 6 35213122 35213122 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 35213122 35213122 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.2567 p.R856H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_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,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 126 0 0 96 12 11.1111 FKBP5 0 genome.wustl.edu 37 6 35547912 35547912 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 35547912 35547912 C T SNP FKBP5 ENST00000357266 human ensembl 74_37 -1 known silent c.927 p.S309 0.001 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 189 0 0 99 52 34.4371 C6orf222 0 genome.wustl.edu 37 6 36288974 36288974 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 36288974 36288974 A C SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known silent c.1626 p.L542 0.965 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 17 0 0 8 6 42.8571 C6orf222 0 genome.wustl.edu 37 6 36298001 36298001 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 36298001 36298001 C T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.467 p.R156H 0.358 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 142 0 0 63 28 30.7692 CPNE5 0 genome.wustl.edu 37 6 36767773 36767773 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 36767773 36767773 G A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known silent c.258 p.F86 0.983 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 66 0 0 27 15 35.7143 MTCH1 0 genome.wustl.edu 37 6 36938221 36938221 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 36938221 36938221 A G SNP MTCH1 ENST00000373627 human ensembl 74_37 -1 known missense c.983 p.F328S 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 105 0 0 51 26 33.7662 DNAH8 0 genome.wustl.edu 37 6 38691194 38691194 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 38691194 38691194 A C SNP DNAH8 ENST00000449981 human ensembl 74_37 +1 known missense c.472 p.N158H 0.005 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 145 0 0 119 55 31.6092 DNAH8 0 genome.wustl.edu 37 6 38818056 38818056 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 38818056 38818056 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.4578 p.K1526N 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 96 0 0 99 8 7.47664 LOC100131047 0 genome.wustl.edu 37 6 38897275 38897275 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 38897275 38897275 C T SNP LOC100131047 ENST00000453417 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP1-207H1.3 Clone_based_vega_gene ENSG00000231150 122 0 0 88 40 31.25 DNAH8 0 genome.wustl.edu 37 6 38994321 38994321 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 38994321 38994321 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known splice_site c.13064-1 e88-1 1.000 - - - no_errors DNAH8 HGNC ENSG00000124721 89 0 0 44 12 21.4286 GLP1R 0 genome.wustl.edu 37 6 39046914 39046914 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 39046914 39046914 C A SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known silent c.981 p.V327 0.995 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 195 0 0 102 63 38.1818 IRF4 0 genome.wustl.edu 37 6 393249 393249 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 393249 393249 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.97 p.D33N 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 20 0 0 10 3 23.0769 LRFN2 0 genome.wustl.edu 37 6 40359708 40359708 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 40359708 40359708 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.2344 p.E782K 0.998 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 90 0 0 51 32 38.5542 FAM217A 0 genome.wustl.edu 37 6 4069760 4069760 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 4069760 4069760 T G SNP FAM217A ENST00000274673 human ensembl 74_37 -1 known missense c.697 p.N233H 0.646 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 132 0 0 118 10 7.8125 BYSL 0 genome.wustl.edu 37 6 41898422 41898422 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 41898422 41898422 T C SNP BYSL ENST00000230340 human ensembl 74_37 +1 known missense c.620 p.I207T 1.000 pfam_Bystin pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 95 0 0 52 8 13.3333 PRPH2 0 genome.wustl.edu 37 6 42666207 42666207 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 42666207 42666207 C T SNP PRPH2 ENST00000230381 human ensembl 74_37 -1 known silent c.867 p.S289 0.072 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 95 0 0 65 22 25.2874 GNMT 0 genome.wustl.edu 37 6 42931424 42931424 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 42931424 42931424 G A SNP GNMT ENST00000372808 human ensembl 74_37 +1 known missense c.868 p.V290M 1.000 pirsf_Gly/Sar_N_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase - no_errors GNMT HGNC ENSG00000124713 90 0 0 38 21 35.5932 MRPL2 0 genome.wustl.edu 37 6 43024071 43024071 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43024071 43024071 A C SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known silent c.378 p.V126 0.021 pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 153 0 0 57 31 35.2273 CUL9 0 genome.wustl.edu 37 6 43156447 43156447 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43156447 43156447 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2174 p.S725L 0.097 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 81 0 0 33 16 32.6531 CUL9 0 genome.wustl.edu 37 6 43166427 43166427 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43166427 43166427 G T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known nonsense c.2884 p.E962* 0.858 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 309 0 0 152 70 31.5315 ZNF318 0 genome.wustl.edu 37 6 43306479 43306479 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43306479 43306479 C A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known nonsense c.5257 p.E1753* 0.014 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 161 0 0 88 47 34.8148 ZNF318 0 genome.wustl.edu 37 6 43323460 43323460 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43323460 43323460 G T SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.1612 p.L538I 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 455 0 0 228 136 37.3626 ZNF318 0 genome.wustl.edu 37 6 43323494 43323494 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43323494 43323494 A G SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.1578 p.R526 0.996 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 479 0 0 268 139 34.1523 ABCC10 0 genome.wustl.edu 37 6 43400462 43400462 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43400462 43400462 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.744 p.C248 0.947 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 122 0 0 56 32 36.3636 GTPBP2 0 genome.wustl.edu 37 6 43592340 43592340 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 43592340 43592340 A G SNP GTPBP2 ENST00000307126 human ensembl 74_37 -1 known missense c.1007 p.V336A 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 95 0 0 50 24 32.4324 TMEM63B 0 genome.wustl.edu 37 6 44103088 44103088 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 44103088 44103088 G A SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 47 0 0 14 9 39.1304 TCTE1 0 genome.wustl.edu 37 6 44250104 44250104 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 44250104 44250104 G A SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.1039 p.R347C 0.990 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 201 0 0 101 52 33.9869 CDC5L 0 genome.wustl.edu 37 6 44360556 44360556 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 44360556 44360556 A C SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.302 p.E101A 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 69 0 0 38 11 22.449 RUNX2 0 genome.wustl.edu 37 6 45296101 45296101 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 45296101 45296101 C T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known silent c.42 p.C14 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 69 0 0 49 23 31.9444 CLIC5 0 genome.wustl.edu 37 6 45870729 45870729 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 45870729 45870729 C T SNP CLIC5 ENST00000487396 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CLIC5 HGNC ENSG00000112782 45 0 0 26 13 33.3333 SLC25A27 0 genome.wustl.edu 37 6 46630234 46630234 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46630234 46630234 C T SNP SLC25A27 ENST00000371347 human ensembl 74_37 +1 known nonsense c.505 p.R169* 0.918 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A27 HGNC ENSG00000153291 83 0 0 52 21 28.7671 TDRD6 0 genome.wustl.edu 37 6 46657305 46657305 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46657305 46657305 T G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.1440 p.S480 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 135 0 0 89 45 33.5821 PLA2G7 0 genome.wustl.edu 37 6 46677131 46677131 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46677131 46677131 C T SNP PLA2G7 ENST00000274793 human ensembl 74_37 -1 known missense c.802 p.A268T 1.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 101 0 0 74 29 28.1553 MEP1A 0 genome.wustl.edu 37 6 46803248 46803248 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46803248 46803248 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known silent c.2046 p.D682 0.349 pirsf_Pept_M12A_Meprin,pfam_EG-like_dom,pfscan_EG-like_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 40 0 0 27 5 15.625 GPR116 0 genome.wustl.edu 37 6 46821800 46821800 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46821800 46821800 T G SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3970 p.N1324H 0.998 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 108 0 0 53 34 39.0805 GPR110 0 genome.wustl.edu 37 6 46996794 46996794 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46996794 46996794 T G SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.4 p.K2Q 0.679 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 71 0 0 57 24 29.6296 MUT 0 genome.wustl.edu 37 6 49419394 49419394 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 49419394 49419394 C A SNP MUT ENST00000274813 human ensembl 74_37 -1 known nonsense c.1117 p.E373* 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 74 0 0 39 25 39.0625 CDYL 0 genome.wustl.edu 37 6 4954278 4954278 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 4954278 4954278 C T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known silent c.1785 p.I595 0.364 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 58 0 0 35 8 18.6047 TFAP2D 0 genome.wustl.edu 37 6 50696595 50696595 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 50696595 50696595 G T SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.625 p.D209Y 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 112 0 0 65 26 28.5714 TFAP2B 0 genome.wustl.edu 37 6 50796360 50796360 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 50796360 50796360 T C SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.596 p.M199T 1.000 prints_TF_AP2_beta pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 83 0 0 78 40 33.8983 TFAP2B 0 genome.wustl.edu 37 6 50810818 50810818 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 50810818 50810818 G T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known nonsense c.1123 p.E375* 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 220 0 0 66 121 64.7059 LYRM4 0 genome.wustl.edu 37 6 5109631 5109631 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 5109631 5109631 G A SNP LYRM4 ENST00000458438 human ensembl 74_37 -1 putative rna NULL NULL 0.038 - - - no_errors LYRM4 HGNC ENSG00000214113 150 0 0 74 28 27.451 PKHD1 0 genome.wustl.edu 37 6 51524753 51524753 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 51524753 51524753 C A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known nonsense c.10171 p.E3391* 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 57 0 0 26 17 39.5349 PKHD1 0 genome.wustl.edu 37 6 51612618 51612618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 51612618 51612618 C A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.9796 p.D3266Y 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 122 0 0 78 35 30.9735 PKHD1 0 genome.wustl.edu 37 6 51613035 51613035 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 51613035 51613035 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.9379 p.L3127F 0.995 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 400 0 0 250 116 31.694 PKHD1 0 genome.wustl.edu 37 6 51747971 51747971 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 51747971 51747971 C A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.7270 p.D2424Y 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 59 0 0 30 21 41.1765 PKHD1 0 genome.wustl.edu 37 6 51892664 51892664 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 51892664 51892664 T G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3591 p.E1197D 0.998 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 56 0 0 49 29 37.1795 PAQR8 0 genome.wustl.edu 37 6 52268312 52268312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 52268312 52268312 G A SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known missense c.301 p.A101T 1.000 pfam_HlyIII-related pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 142 0 0 80 33 29.2035 GSTA5 0 genome.wustl.edu 37 6 52702399 52702399 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 52702399 52702399 C A SNP GSTA5 ENST00000284562 human ensembl 74_37 -1 known missense c.96 p.E32D 0.059 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 67 0 0 50 19 27.5362 ICK 0 genome.wustl.edu 37 6 52897353 52897353 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 52897353 52897353 G T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.256 p.L86I 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 ICK HGNC ENSG00000112144 35 0 0 18 17 48.5714 FBXO9 0 genome.wustl.edu 37 6 52960345 52960345 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 52960345 52960345 G A SNP FBXO9 ENST00000244426 human ensembl 74_37 +1 known missense c.1118 p.R373H 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO9 HGNC ENSG00000112146 46 0 0 23 17 42.5 LRRC1 0 genome.wustl.edu 37 6 53767437 53767437 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 53767437 53767437 G T SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.798 p.K266N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 104 0 0 59 24 28.9157 LRRC1 0 genome.wustl.edu 37 6 53785469 53785469 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 53785469 53785469 C A SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known silent c.1326 p.V442 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 91 0 0 54 33 37.931 MLIP 0 genome.wustl.edu 37 6 53989606 53989606 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 53989606 53989606 G T SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.555 p.K185N 0.048 NULL NULL - no_errors MLIP HGNC ENSG00000146147 86 0 0 47 20 29.8507 TINAG 0 genome.wustl.edu 37 6 54214548 54214548 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 54214548 54214548 G T SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.934 p.D312Y 0.923 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 152 0 0 80 37 31.6239 TINAG 0 genome.wustl.edu 37 6 54219400 54219400 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 54219400 54219400 C T SNP TINAG ENST00000259782 human ensembl 74_37 +1 known nonsense c.1216 p.R406* 0.105 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 59 0 0 34 23 40.3509 HCRTR2 0 genome.wustl.edu 37 6 55145214 55145214 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 55145214 55145214 G A SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known silent c.1077 p.A359 0.989 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 73 0 0 63 38 37.6238 BMP5 0 genome.wustl.edu 37 6 55659124 55659124 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 55659124 55659124 T G SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.785 p.N262T 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 98 0 0 68 31 31.3131 DST 0 genome.wustl.edu 37 6 56325025 56325025 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56325025 56325025 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.22894 p.R7632* 0.997 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 64 0 0 38 16 29.6296 DST 0 genome.wustl.edu 37 6 56354333 56354333 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56354333 56354333 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.20739 p.I6913 0.005 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 121 0 0 87 33 27.5 DST 0 genome.wustl.edu 37 6 56469525 56469525 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56469525 56469525 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.9802 p.D3268Y 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 156 0 0 88 38 30.1587 DST 0 genome.wustl.edu 37 6 56480649 56480649 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56480649 56480649 A G SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.7616 p.V2539A 0.933 smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 150 0 0 96 45 31.9149 DST 0 genome.wustl.edu 37 6 56499282 56499282 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56499282 56499282 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.3373 p.E1125* 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 82 0 0 79 6 7.05882 ZNF451 0 genome.wustl.edu 37 6 56963933 56963933 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56963933 56963933 T C SNP ZNF451 ENST00000502749 human ensembl 74_37 +1 known missense c.158 p.I53T 0.536 NULL NULL - no_errors ZNF451 HGNC ENSG00000112200 32 0 0 25 14 35.8974 ZNF451 0 genome.wustl.edu 37 6 56997971 56997971 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 56997971 56997971 C T SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known missense c.556 p.L186F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 115 0 0 85 23 21.2963 RAB23 0 genome.wustl.edu 37 6 57061318 57061318 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 57061318 57061318 C T SNP RAB23 ENST00000317483 human ensembl 74_37 -1 known missense c.328 p.E110K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB23 HGNC ENSG00000112210 118 0 0 71 46 39.3162 PRIM2 0 genome.wustl.edu 37 6 57467169 57467169 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 57467169 57467169 T G SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PRIM2 HGNC ENSG00000146143 152 0 0 109 17 13.4921 PRIM2 0 genome.wustl.edu 37 6 57472420 57472420 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 57472420 57472420 C A SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors PRIM2 HGNC ENSG00000146143 74 0 0 52 7 11.8644 EXOC2 0 genome.wustl.edu 37 6 598085 598085 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 598085 598085 C A SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known nonsense c.1009 p.E337* 1.000 superfamily_Cullin_repeat-like_dom pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 23 0 0 29 12 29.2683 F13A1 0 genome.wustl.edu 37 6 6167838 6167838 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 6167838 6167838 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known silent c.1761 p.A587 0.985 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 60 0 0 32 11 25.5814 F13A1 0 genome.wustl.edu 37 6 6225075 6225075 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 6225075 6225075 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.817 p.E273K 0.864 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 104 0 0 70 30 30 ENSG00000250686 0 genome.wustl.edu 37 6 62390848 62390848 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 62390848 62390848 G A SNP ENSG00000250686 ENST00000511849 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP1-240B8.3 Clone_based_vega_gene ENSG00000250686 45 0 0 16 15 48.3871 EXOC2 0 genome.wustl.edu 37 6 637805 637805 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 637805 637805 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.14 p.R5Q 0.999 superfamily_Ig_E-set pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 170 0 0 99 32 24.4275 PHF3 0 genome.wustl.edu 37 6 64395212 64395212 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 64395212 64395212 G A SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.1589 p.R530Q 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 71 0 0 48 21 30.4348 PHF3 0 genome.wustl.edu 37 6 64395712 64395712 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 64395712 64395712 A C SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.2089 p.I697L 0.498 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 115 0 0 84 39 31.7073 ENSG00000243828 0 genome.wustl.edu 37 6 65443350 65443350 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 65443350 65443350 G T SNP ENSG00000243828 ENST00000421170 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-307F22.2 Clone_based_vega_gene ENSG00000243828 10 0 0 7 7 50 BAI3 0 genome.wustl.edu 37 6 69666665 69666665 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 69666665 69666665 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1489 p.E497K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 111 0 0 72 22 23.4043 LMBRD1 0 genome.wustl.edu 37 6 70407530 70407530 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 70407530 70407530 T C SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.1342 p.N448D 0.997 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 64 0 0 47 21 30.8824 COL9A1 0 genome.wustl.edu 37 6 70962997 70962997 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 70962997 70962997 A G SNP COL9A1 ENST00000447041 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors COL9A1 HGNC ENSG00000112280 10 0 0 11 9 45 COL9A1 0 genome.wustl.edu 37 6 71009840 71009840 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 71009840 71009840 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.205 p.A69T 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 65 0 0 49 23 31.9444 FAM135A 0 genome.wustl.edu 37 6 71235543 71235543 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 71235543 71235543 A C SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.2756 p.D919A 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 84 0 0 67 33 33 RIMS1 0 genome.wustl.edu 37 6 72975748 72975748 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 72975748 72975748 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3394 p.E1132K 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 9 0 0 5 3 37.5 RIMS1 0 genome.wustl.edu 37 6 73108789 73108789 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 73108789 73108789 T C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4853 p.V1618A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 69 0 0 45 32 41.5584 CAGE1 0 genome.wustl.edu 37 6 7373574 7373574 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 7373574 7373574 T G SNP CAGE1 ENST00000338150 human ensembl 74_37 -1 known missense c.1478 p.K493T 0.599 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 44 0 0 27 9 25 KCNQ5 0 genome.wustl.edu 37 6 73843259 73843259 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 73843259 73843259 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1393 p.E465K 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 140 0 0 77 42 35.2941 RIOK1 0 genome.wustl.edu 37 6 7405486 7405486 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 7405486 7405486 C A SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.1101 p.F367L 1.000 pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 46 0 0 38 17 30.9091 RIOK1 0 genome.wustl.edu 37 6 7411600 7411600 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 7411600 7411600 T C SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known silent c.1305 p.N435 0.990 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 109 0 0 64 37 36.6337 MB21D1 0 genome.wustl.edu 37 6 74138502 74138502 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 74138502 74138502 C T SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1147 p.E383K 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 63 0 0 33 12 26.6667 MTO1 0 genome.wustl.edu 37 6 74191931 74191931 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 74191931 74191931 C T SNP MTO1 ENST00000415954 human ensembl 74_37 +1 known missense c.1549 p.R517C 1.000 NULL pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 91 0 0 55 15 21.4286 CD109 0 genome.wustl.edu 37 6 74530184 74530184 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 74530184 74530184 G A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known splice_site c.4060-1 e32-1 1.000 - - - no_errors CD109 HGNC ENSG00000156535 46 0 0 31 16 34.0426 DSP 0 genome.wustl.edu 37 6 7575554 7575554 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 7575554 7575554 G T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.2463 p.K821N 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 151 0 0 90 38 29.6875 DSP 0 genome.wustl.edu 37 6 7584004 7584004 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 7584004 7584004 A C SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.6509 p.K2170T 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 126 0 0 73 32 30.4762 COL12A1 0 genome.wustl.edu 37 6 75841699 75841699 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 75841699 75841699 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5894 p.R1965H 0.878 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 99 0 0 50 26 34.2105 COL12A1 0 genome.wustl.edu 37 6 75848567 75848567 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 75848567 75848567 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5068 p.A1690T 0.980 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 103 0 0 76 35 31.5315 COL12A1 0 genome.wustl.edu 37 6 75890799 75890799 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 75890799 75890799 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known nonsense c.2020 p.E674* 0.486 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 126 0 0 62 44 41.5094 COL12A1 0 genome.wustl.edu 37 6 75893216 75893216 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 75893216 75893216 G T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1441 p.L481I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 116 0 0 76 34 30.9091 FILIP1 0 genome.wustl.edu 37 6 76018411 76018411 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 76018411 76018411 C T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.3638 p.G1213D 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 220 0 0 135 57 29.6875 MYO6 0 genome.wustl.edu 37 6 76551007 76551007 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 76551007 76551007 G T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.728 p.R243I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 57 0 0 39 16 29.0909 MYO6 0 genome.wustl.edu 37 6 76551055 76551055 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 76551055 76551055 T C SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.776 p.I259T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 50 0 0 38 14 26.9231 MYO6 0 genome.wustl.edu 37 6 76604947 76604947 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 76604947 76604947 G T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known splice_site c.3138-1 e29-1 1.000 - - - no_errors MYO6 HGNC ENSG00000196586 50 0 0 45 16 26.2295 IMPG1 0 genome.wustl.edu 37 6 76633355 76633355 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 76633355 76633355 T C SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.2312 p.N771S 0.999 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 18 0 0 27 9 25 IMPG1 0 genome.wustl.edu 37 6 76731854 76731854 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 76731854 76731854 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known silent c.645 p.N215 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 85 0 0 50 21 29.5775 HTR1B 0 genome.wustl.edu 37 6 78173062 78173062 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 78173062 78173062 A G SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.59 p.V20A 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 147 0 0 66 37 35.9223 PHIP 0 genome.wustl.edu 37 6 79656535 79656535 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 79656535 79656535 A C SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.4263 p.V1421 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 87 0 0 50 21 29.5775 PHIP 0 genome.wustl.edu 37 6 79665468 79665468 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 79665468 79665468 C T SNP PHIP ENST00000479165 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PHIP HGNC ENSG00000146247 10 0 0 9 6 40 LCA5 0 genome.wustl.edu 37 6 80222985 80222985 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 80222985 80222985 C T SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known missense c.664 p.A222T 1.000 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 96 0 0 82 45 35.4331 LCA5 0 genome.wustl.edu 37 6 80223141 80223141 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 80223141 80223141 C A SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known missense c.508 p.A170S 0.999 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 98 0 0 81 43 34.6774 TTK 0 genome.wustl.edu 37 6 80717654 80717654 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 80717654 80717654 C T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.268 p.R90C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 77 0 0 55 39 41.4894 FAM46A 0 genome.wustl.edu 37 6 82460081 82460081 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 82460081 82460081 A G SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known silent c.717 p.D239 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 78 0 0 55 29 34.5238 IBTK 0 genome.wustl.edu 37 6 82914599 82914599 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 82914599 82914599 A C SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.2586 p.I862M 0.995 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 47 0 0 31 19 38 DOPEY1 0 genome.wustl.edu 37 6 83819957 83819957 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 83819957 83819957 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.605 p.Y202C 1.000 pfam_Dopey_N,superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 228 1 0.436681 117 85 42.0792 DOPEY1 0 genome.wustl.edu 37 6 83862075 83862075 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 83862075 83862075 T G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.6118 p.L2040V 0.986 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 31 0 0 25 4 13.7931 PGM3 0 genome.wustl.edu 37 6 83884180 83884180 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 83884180 83884180 C A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.1155 p.M385I 0.033 pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 39 0 0 28 15 34.8837 PRSS35 0 genome.wustl.edu 37 6 84233365 84233365 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 84233365 84233365 G T SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known nonsense c.205 p.E69* 0.830 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 143 0 0 70 27 27.8351 PRSS35 0 genome.wustl.edu 37 6 84233890 84233890 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 84233890 84233890 G A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.730 p.E244K 0.584 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 76 0 0 50 21 29.5775 CYB5R4 0 genome.wustl.edu 37 6 84618734 84618734 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 84618734 84618734 C T SNP CYB5R4 ENST00000369681 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 44 0 0 35 12 25.5319 SYNCRIP 0 genome.wustl.edu 37 6 86333812 86333812 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 86333812 86333812 G A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.685 p.R229C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 61 0 0 49 21 30 SYNCRIP 0 genome.wustl.edu 37 6 86349994 86349994 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 86349994 86349994 T C SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.320 p.K107R 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 144 0 0 81 49 37.6923 HTR1E 0 genome.wustl.edu 37 6 87725558 87725558 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 87725558 87725558 C T SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.506 p.P169L 0.944 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 154 0 0 83 34 29.0598 ZNF292 0 genome.wustl.edu 37 6 87967536 87967536 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 87967536 87967536 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known nonsense c.4189 p.R1397* 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 137 0 0 66 39 37.1429 ZNF292 0 genome.wustl.edu 37 6 87969690 87969690 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 87969690 87969690 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known nonsense c.6343 p.R2115* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 109 0 0 81 33 28.9474 C6orf165 0 genome.wustl.edu 37 6 88120335 88120335 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88120335 88120335 C T SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known silent c.141 p.G47 0.995 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 108 0 0 76 30 28.3019 C6orf165 0 genome.wustl.edu 37 6 88123615 88123615 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88123615 88123615 C T SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known nonsense c.280 p.R94* 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 51 0 0 41 30 42.2535 C6orf165 0 genome.wustl.edu 37 6 88126425 88126425 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88126425 88126425 A G SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.511 p.T171A 0.695 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 45 0 0 20 11 35.4839 C6orf165 0 genome.wustl.edu 37 6 88170746 88170746 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88170746 88170746 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.1501 p.D501N 0.302 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 48 0 0 34 15 30.6122 C6orf165 0 genome.wustl.edu 37 6 88170802 88170802 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88170802 88170802 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known silent c.1557 p.T519 0.518 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 53 0 0 43 15 25.8621 RARS2 0 genome.wustl.edu 37 6 88231241 88231241 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88231241 88231241 C A SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known missense c.976 p.D326Y 1.000 pfam_Arg-tRNA-synth_Ia_core,prints_Arg-tRNA-synth_Ia_core,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 40 0 0 55 23 29.4872 AKIRIN2 0 genome.wustl.edu 37 6 88387650 88387650 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 88387650 88387650 C A SNP AKIRIN2 ENST00000257787 human ensembl 74_37 -1 known nonsense c.415 p.E139* 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 114 0 0 55 39 41.4894 PNRC1 0 genome.wustl.edu 37 6 89790697 89790697 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 89790697 89790697 C A SNP PNRC1 ENST00000336032 human ensembl 74_37 +1 known nonsense c.84 p.Y28* 0.997 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 64 0 0 50 9 15.2542 ANKRD6 0 genome.wustl.edu 37 6 90323556 90323556 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90323556 90323556 T C SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known missense c.562 p.S188P 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 41 0 0 33 12 26.6667 MDN1 0 genome.wustl.edu 37 6 90361988 90361988 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90361988 90361988 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.15838 p.D5280Y 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 98 0 0 63 24 27.5862 MDN1 0 genome.wustl.edu 37 6 90434994 90434994 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90434994 90434994 A C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.5594 p.F1865C 1.000 pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 162 0 0 79 38 32.4786 MDN1 0 genome.wustl.edu 37 6 90448144 90448144 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90448144 90448144 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.4624 p.E1542* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 120 0 0 67 34 33.6634 MDN1 0 genome.wustl.edu 37 6 90450000 90450000 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90450000 90450000 G T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4546 p.R1516S 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 112 0 0 85 34 28.5714 CASP8AP2 0 genome.wustl.edu 37 6 90578381 90578381 + RNA SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90578381 90578381 A T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors CASP8AP2 HGNC ENSG00000118412 51 0 0 44 17 27.8689 ENSG00000226455 0 genome.wustl.edu 37 6 90661652 90661652 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 90661652 90661652 G T SNP ENSG00000226455 ENST00000413986 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP3-512E2.2 Clone_based_vega_gene ENSG00000226455 23 0 0 9 9 50 MAP3K7 0 genome.wustl.edu 37 6 91229036 91229036 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 91229036 91229036 T C SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.1465 p.T489A 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 57 0 0 38 20 34.4828 FHL5 0 genome.wustl.edu 37 6 97052727 97052727 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 97052727 97052727 C T SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known silent c.261 p.R87 0.999 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 143 0 0 69 40 36.6972 GPR63 0 genome.wustl.edu 37 6 97246403 97246403 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 97246403 97246403 C T SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known missense c.1205 p.R402Q 0.998 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 119 0 0 57 33 36.6667 KLHL32 0 genome.wustl.edu 37 6 97424044 97424044 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 97424044 97424044 C A SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.195 p.D65E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 108 0 0 59 17 22.3684 KLHL32 0 genome.wustl.edu 37 6 97562324 97562324 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 97562324 97562324 C A SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known silent c.1293 p.S431 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 118 0 0 65 37 36.2745 FBXL4 0 genome.wustl.edu 37 6 99374803 99374803 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99374803 99374803 C T SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.62 p.R21H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 219 0 0 108 71 39.6648 FAXC 0 genome.wustl.edu 37 6 99771429 99771429 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99771429 99771429 C T SNP FAXC ENST00000389677 human ensembl 74_37 -1 known silent c.714 p.T238 0.995 superfamily_Glutathione-S-Trfase_C-like superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 65 0 0 27 16 37.2093 COQ3 0 genome.wustl.edu 37 6 99825356 99825356 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99825356 99825356 T C SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.392 p.N131S 1.000 tigrfam_UbiG_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 47 0 0 27 12 30.7692 PNISR 0 genome.wustl.edu 37 6 99852513 99852513 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99852513 99852513 G A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known silent c.1068 p.Y356 0.107 NULL NULL - no_errors PNISR HGNC ENSG00000132424 54 0 0 41 19 31.6667 PNISR 0 genome.wustl.edu 37 6 99857253 99857253 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99857253 99857253 A C SNP PNISR ENST00000463021 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PNISR HGNC ENSG00000132424 25 0 0 23 16 41.0256 PNISR 0 genome.wustl.edu 37 6 99862453 99862453 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99862453 99862453 T C SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.83 p.D28G 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 89 0 0 49 27 35.5263 USP45 0 genome.wustl.edu 37 6 99891518 99891518 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99891518 99891518 A C SNP USP45 ENST00000327681 human ensembl 74_37 -1 known missense c.1996 p.Y666D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 54 0 0 34 10 22.7273 USP45 0 genome.wustl.edu 37 6 99956550 99956550 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 99956550 99956550 C T SNP USP45 ENST00000327681 human ensembl 74_37 -1 known missense c.209 p.R70K 0.869 pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 50 0 0 20 12 37.5 PPP1R35 0 genome.wustl.edu 37 7 100032928 100032928 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100032928 100032928 C A SNP PPP1R35 ENST00000476185 human ensembl 74_37 -1 known rna NULL NULL 0.387 - - - no_errors PPP1R35 HGNC ENSG00000160813 30 0 0 10 7 41.1765 PCOLCE 0 genome.wustl.edu 37 7 100201741 100201741 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100201741 100201741 G A SNP PCOLCE ENST00000223061 human ensembl 74_37 +1 known missense c.364 p.A122T 0.991 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 154 0 0 65 34 34.3434 PCOLCE 0 genome.wustl.edu 37 7 100203324 100203324 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100203324 100203324 T C SNP PCOLCE ENST00000223061 human ensembl 74_37 +1 known missense c.614 p.F205S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 14 0 0 4 3 42.8571 ZAN 0 genome.wustl.edu 37 7 100358106 100358106 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100358106 100358106 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.3789 p.F1263 0.998 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 123 0 0 44 26 37.1429 ZAN 0 genome.wustl.edu 37 7 100385564 100385564 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100385564 100385564 T G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.7030 p.F2344V 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 86 0 0 35 20 36.3636 MUC17 0 genome.wustl.edu 37 7 100682994 100682994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100682994 100682994 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8297 p.S2766Y 0.035 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 612 0 0 321 124 27.8652 MUC17 0 genome.wustl.edu 37 7 100686614 100686614 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100686614 100686614 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.11917 p.T3973A 0.017 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 213 0 0 147 13 8.125 RABL5 0 genome.wustl.edu 37 7 100958425 100958425 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100958425 100958425 A C SNP RABL5 ENST00000315322 human ensembl 74_37 -1 known missense c.548 p.I183S 1.000 NULL pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RABL5 HGNC ENSG00000128581 82 0 0 53 22 29.3333 RABL5 0 genome.wustl.edu 37 7 100962276 100962276 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 100962276 100962276 G T SNP RABL5 ENST00000315322 human ensembl 74_37 -1 known missense c.77 p.S26Y 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RABL5 HGNC ENSG00000128581 96 0 0 61 30 32.967 CUX1 0 genome.wustl.edu 37 7 101925144 101925144 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 101925144 101925144 C A SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1834 p.L612I 1.000 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 105 0 0 33 16 32.6531 FBXL13 0 genome.wustl.edu 37 7 102517974 102517974 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 102517974 102517974 A G SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known silent c.1575 p.Y525 0.001 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 94 0 0 49 25 33.7838 DPY19L2P2 0 genome.wustl.edu 37 7 102837678 102837678 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 102837678 102837678 T C SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 42 0 0 29 18 38.2979 DPY19L2P2 0 genome.wustl.edu 37 7 102856922 102856922 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 102856922 102856922 G A SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 81 0 0 63 32 33.6842 DNAJC2 0 genome.wustl.edu 37 7 102953458 102953458 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 102953458 102953458 C A SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.1727 p.R576I 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 209 0 0 119 50 29.5858 DNAJC2 0 genome.wustl.edu 37 7 102967059 102967059 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 102967059 102967059 A G SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.503 p.V168A 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 55 0 0 38 23 37.7049 SLC26A5 0 genome.wustl.edu 37 7 103061263 103061263 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 103061263 103061263 G T SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.214 p.P72T 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 119 0 0 70 36 33.9623 RELN 0 genome.wustl.edu 37 7 103155842 103155842 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 103155842 103155842 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7909 p.R2637C 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 54 0 0 38 20 34.4828 RELN 0 genome.wustl.edu 37 7 103179740 103179740 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 103179740 103179740 A C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6965 p.V2322G 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 56 0 0 38 28 42.4242 RELN 0 genome.wustl.edu 37 7 103205762 103205762 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 103205762 103205762 A C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.5173 p.W1725G 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 127 0 0 64 27 29.6703 RELN 0 genome.wustl.edu 37 7 103276722 103276722 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 103276722 103276722 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.2263 p.R755C 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 49 0 0 46 7 13.2075 KMT2E 0 genome.wustl.edu 37 7 104731694 104731694 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 104731694 104731694 A C SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.1655 p.K552T 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 48 0 0 33 13 28.2609 KMT2E 0 genome.wustl.edu 37 7 104746336 104746336 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 104746336 104746336 A C SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.2482 p.N828H 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 75 0 0 48 21 30.4348 SRPK2 0 genome.wustl.edu 37 7 104751369 104751369 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 104751369 104751369 A C SNP SRPK2 ENST00000493638 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SRPK2 HGNC ENSG00000135250 31 0 0 24 14 36.8421 PUS7 0 genome.wustl.edu 37 7 105111185 105111185 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 105111185 105111185 G A SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known nonsense c.1348 p.R450* 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 188 0 0 101 44 30.3448 RINT1 0 genome.wustl.edu 37 7 105187508 105187508 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 105187508 105187508 A C SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.667 p.I223L 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 120 0 0 72 37 33.945 CDHR3 0 genome.wustl.edu 37 7 105662793 105662793 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 105662793 105662793 T G SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.1975 p.S659A 0.914 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 248 1 0.401606 105 66 38.5965 NAMPT 0 genome.wustl.edu 37 7 105902057 105902057 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 105902057 105902057 C T SNP NAMPT ENST00000222553 human ensembl 74_37 -1 known missense c.1066 p.V356I 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 107 0 0 90 49 35.2518 NAMPT 0 genome.wustl.edu 37 7 105908906 105908906 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 105908906 105908906 T G SNP NAMPT ENST00000467730 human ensembl 74_37 -1 putative rna NULL NULL 0.971 - - - no_errors NAMPT HGNC ENSG00000105835 77 0 0 71 38 34.8624 PIK3CG 0 genome.wustl.edu 37 7 106520000 106520000 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 106520000 106520000 C A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.2428 p.P810T 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 82 0 0 57 29 33.7209 COG5 0 genome.wustl.edu 37 7 106938717 106938717 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 106938717 106938717 G A SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.1276 p.R426C 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 81 0 0 60 33 35.4839 COG5 0 genome.wustl.edu 37 7 107002853 107002853 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 107002853 107002853 C T SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.941 p.R314Q 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 55 0 0 20 19 48.7179 SLC26A4 0 genome.wustl.edu 37 7 107314667 107314667 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 107314667 107314667 C T SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.474 p.D158 0.975 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 137 0 0 92 43 31.8519 SLC26A3 0 genome.wustl.edu 37 7 107408302 107408302 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 107408302 107408302 T G SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known missense c.2114 p.K705T 0.148 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 36 0 0 43 16 27.1186 NRCAM 0 genome.wustl.edu 37 7 107790351 107790351 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 107790351 107790351 A C SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NRCAM HGNC ENSG00000091129 159 0 0 104 47 31.1258 PHF14 0 genome.wustl.edu 37 7 11076293 11076293 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 11076293 11076293 A C SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known silent c.1851 p.A617 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 37 0 0 29 12 29.2683 PHF14 0 genome.wustl.edu 37 7 11091326 11091326 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 11091326 11091326 A G SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known silent c.2400 p.S800 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 51 0 0 34 13 27.6596 DOCK4 0 genome.wustl.edu 37 7 111503386 111503386 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 111503386 111503386 G A SNP DOCK4 ENST00000476846 human ensembl 74_37 -1 known rna NULL NULL 0.073 - - - no_errors DOCK4 HGNC ENSG00000128512 35 0 0 22 10 31.25 ZNF277 0 genome.wustl.edu 37 7 111958290 111958290 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 111958290 111958290 C T SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known silent c.519 p.G173 0.010 smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 60 0 0 38 22 36.6667 PPP1R3A 0 genome.wustl.edu 37 7 113518902 113518902 + Nonsense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 113518902 113518902 T A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known nonsense c.2245 p.K749* 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 163 0 0 91 54 37.2414 FOXP2 0 genome.wustl.edu 37 7 114271749 114271749 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 114271749 114271749 C T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.839 p.S280L 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 57 0 0 28 22 44 FOXP2 0 genome.wustl.edu 37 7 114298150 114298150 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 114298150 114298150 G A SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known silent c.1371 p.S457 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 149 0 0 69 45 39.4737 THSD7A 0 genome.wustl.edu 37 7 11446969 11446969 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 11446969 11446969 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.3880 p.P1294S 0.602 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 36 0 0 14 12 46.1538 THSD7A 0 genome.wustl.edu 37 7 11450874 11450874 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 11450874 11450874 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.3758 p.R1253Q 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 46 0 0 41 19 31.6667 THSD7A 0 genome.wustl.edu 37 7 11514155 11514155 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 11514155 11514155 T C SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.2058 p.V686 0.015 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 93 0 0 32 15 31.9149 TFEC 0 genome.wustl.edu 37 7 115590937 115590937 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 115590937 115590937 G A SNP TFEC ENST00000265440 human ensembl 74_37 -1 known missense c.506 p.S169F 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 43 0 0 45 17 27.4194 TFEC 0 genome.wustl.edu 37 7 115590981 115590981 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 115590981 115590981 A G SNP TFEC ENST00000265440 human ensembl 74_37 -1 known silent c.462 p.N154 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 43 0 0 38 20 34.4828 ST7 0 genome.wustl.edu 37 7 116769862 116769862 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 116769862 116769862 G A SNP ST7 ENST00000265437 human ensembl 74_37 +1 known missense c.410 p.R137Q 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 99 0 0 63 26 29.2135 ST7 0 genome.wustl.edu 37 7 116770546 116770546 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 116770546 116770546 T C SNP ST7 ENST00000265437 human ensembl 74_37 +1 known missense c.451 p.Y151H 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 132 0 0 65 42 39.2523 ST7-AS2 0 genome.wustl.edu 37 7 116770717 116770717 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 116770717 116770717 G T SNP ST7-AS2 ENST00000434993 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ST7-AS2 HGNC ENSG00000226367 43 0 0 25 18 41.8605 ST7 0 genome.wustl.edu 37 7 116849924 116849924 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 116849924 116849924 C A SNP ST7 ENST00000265437 human ensembl 74_37 +1 known missense c.1338 p.F446L 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 51 0 0 46 21 31.3433 WNT2 0 genome.wustl.edu 37 7 116960623 116960623 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 116960623 116960623 C T SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known missense c.308 p.R103Q 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 27 0 0 23 11 32.3529 ASZ1 0 genome.wustl.edu 37 7 117066950 117066950 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 117066950 117066950 T G SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known missense c.145 p.K49Q 0.676 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 161 0 0 121 47 27.9762 CFTR 0 genome.wustl.edu 37 7 117246794 117246794 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 117246794 117246794 T C SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.2975 p.F992S 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 146 0 0 110 76 40.8602 CTTNBP2 0 genome.wustl.edu 37 7 117431919 117431919 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 117431919 117431919 C T SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.1331 p.R444Q 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 345 1 0.289017 186 91 32.852 KCND2 0 genome.wustl.edu 37 7 119915724 119915724 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 119915724 119915724 G T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1038 p.E346D 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 147 0 0 71 45 38.7931 ING3 0 genome.wustl.edu 37 7 120593395 120593395 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 120593395 120593395 C A SNP ING3 ENST00000315870 human ensembl 74_37 +1 known missense c.138 p.F46L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING3 HGNC ENSG00000071243 106 0 0 69 45 39.4737 CPED1 0 genome.wustl.edu 37 7 120704358 120704358 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 120704358 120704358 A C SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.607 p.R203 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 49 0 0 37 18 32.7273 CPED1 0 genome.wustl.edu 37 7 120739989 120739989 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 120739989 120739989 G A SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.759 p.T253 0.791 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 64 0 0 46 18 28.125 CPED1 0 genome.wustl.edu 37 7 120935617 120935617 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 120935617 120935617 C T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known nonsense c.2992 p.R998* 0.003 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 125 0 0 77 41 34.7458 WNT16 0 genome.wustl.edu 37 7 120978940 120978940 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 120978940 120978940 C T SNP WNT16 ENST00000222462 human ensembl 74_37 +1 known silent c.639 p.V213 0.421 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 57 0 0 24 17 41.4634 PTPRZ1 0 genome.wustl.edu 37 7 121608065 121608065 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 121608065 121608065 C A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.185 p.S62Y 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 85 0 0 72 22 23.4043 PTPRZ1 0 genome.wustl.edu 37 7 121651597 121651597 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 121651597 121651597 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.2497 p.R833C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 242 0 0 126 55 30.3867 PTPRZ1 0 genome.wustl.edu 37 7 121653537 121653537 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 121653537 121653537 G T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.4437 p.E1479D 0.009 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 88 0 0 60 26 30.2326 TAS2R16 0 genome.wustl.edu 37 7 122635462 122635462 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 122635462 122635462 T C SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known missense c.227 p.Y76C 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 90 0 0 54 32 37.2093 IQUB 0 genome.wustl.edu 37 7 123109296 123109296 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 123109296 123109296 A G SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.1553 p.V518A 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 126 0 0 77 25 24.5098 IQUB 0 genome.wustl.edu 37 7 123109360 123109360 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 123109360 123109360 C A SNP IQUB ENST00000324698 human ensembl 74_37 -1 known nonsense c.1489 p.E497* 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 111 0 0 66 39 37.1429 ASB15 0 genome.wustl.edu 37 7 123276892 123276892 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 123276892 123276892 C T SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.1624 p.R542W 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 106 0 0 63 37 37 HYAL4 0 genome.wustl.edu 37 7 123509153 123509153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 123509153 123509153 C T SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.826 p.R276C 0.096 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 99 0 0 61 24 28.2353 SPAM1 0 genome.wustl.edu 37 7 123599570 123599570 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 123599570 123599570 G T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.1077 p.E359D 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 70 0 0 39 19 32.7586 POT1 0 genome.wustl.edu 37 7 124503537 124503537 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 124503537 124503537 A G SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.413 p.V138A 0.998 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 140 0 0 88 45 33.8346 POT1 0 genome.wustl.edu 37 7 124537223 124537223 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 124537223 124537223 G T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.5 p.S2Y 1.000 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 54 0 0 44 15 25.4237 SCIN 0 genome.wustl.edu 37 7 12680065 12680065 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 12680065 12680065 G A SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1504 p.G502R 1.000 NULL pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 43 0 0 26 10 27.7778 GCC1 0 genome.wustl.edu 37 7 127222278 127222278 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 127222278 127222278 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known silent c.2118 p.I706 0.217 superfamily_ARM-type_fold pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 177 0 0 84 53 38.6861 GCC1 0 genome.wustl.edu 37 7 127222711 127222711 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 127222711 127222711 A C SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1685 p.L562R 0.287 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 102 0 0 62 4 6.06061 FSCN3 0 genome.wustl.edu 37 7 127235919 127235919 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 127235919 127235919 T C SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known silent c.703 p.L235 0.217 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 137 0 0 58 33 36.2637 SND1 0 genome.wustl.edu 37 7 127725811 127725811 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 127725811 127725811 C A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known silent c.2283 p.V761 1.000 pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 157 0 0 81 37 31.3559 LOC101930494 0 genome.wustl.edu 37 7 128173704 128173704 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 128173704 128173704 A C SNP LOC101930494 ENST00000605862 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-274B21.1 Clone_based_vega_gene ENSG00000242588 25 0 0 20 8 28.5714 FAM71F1 0 genome.wustl.edu 37 7 128366916 128366916 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 128366916 128366916 A C SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.844 p.N282H 0.000 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 81 0 0 55 20 26.6667 FLNC 0 genome.wustl.edu 37 7 128497188 128497188 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 128497188 128497188 C A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.7578 p.F2526L 1.000 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 FLNC HGNC ENSG00000128591 368 0 0 153 72 32 SMO 0 genome.wustl.edu 37 7 128845085 128845085 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 128845085 128845085 C T SNP SMO ENST00000249373 human ensembl 74_37 +1 known silent c.579 p.C193 0.139 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 63 0 0 23 19 45.2381 SMO 0 genome.wustl.edu 37 7 128849216 128849216 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 128849216 128849216 C T SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1444 p.R482C 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 59 0 0 29 13 30.9524 NRF1 0 genome.wustl.edu 37 7 129297378 129297378 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 129297378 129297378 G A SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.187 p.A63T 1.000 NULL pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 106 0 0 65 34 34.3434 KLHDC10 0 genome.wustl.edu 37 7 129770576 129770576 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 129770576 129770576 G A SNP KLHDC10 ENST00000335420 human ensembl 74_37 +1 known missense c.1319 p.R440H 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 - no_errors KLHDC10 HGNC ENSG00000128607 151 0 0 77 33 30 CPA2 0 genome.wustl.edu 37 7 129910557 129910557 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 129910557 129910557 G T SNP CPA2 ENST00000222481 human ensembl 74_37 +1 known nonsense c.313 p.E105* 1.000 superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA2 HGNC ENSG00000158516 99 0 0 58 20 25.641 MIR335 0 genome.wustl.edu 37 7 130137604 130137604 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 130137604 130137604 G A SNP MIR335 ENST00000604666 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-335 miRBase ENSG00000270823 14 0 0 6 5 45.4545 TSGA13 0 genome.wustl.edu 37 7 130356562 130356562 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 130356562 130356562 C T SNP TSGA13 ENST00000356588 human ensembl 74_37 -1 known silent c.597 p.Q199 0.999 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 158 0 0 99 53 34.8684 MKLN1 0 genome.wustl.edu 37 7 131084189 131084189 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 131084189 131084189 A C SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known missense c.700 p.N234H 1.000 pfscan_CTLH_C pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 123 0 0 93 55 37.1622 EXOC4 0 genome.wustl.edu 37 7 133502136 133502136 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 133502136 133502136 C T SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known nonsense c.1573 p.R525* 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 49 0 0 29 11 27.5 EXOC4 0 genome.wustl.edu 37 7 133749115 133749115 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 133749115 133749115 A G SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.2759 p.Y920C 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 76 0 0 42 26 38.2353 LRGUK 0 genome.wustl.edu 37 7 133812199 133812199 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 133812199 133812199 G A SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.79 p.A27T 0.000 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 183 0 0 110 41 27.1523 LRGUK 0 genome.wustl.edu 37 7 133859329 133859329 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 133859329 133859329 G T SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known nonsense c.961 p.E321* 0.972 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 80 0 0 62 39 38.6139 LRGUK 0 genome.wustl.edu 37 7 133884125 133884125 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 133884125 133884125 A C SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.1699 p.K567Q 0.096 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 154 0 0 101 57 36.0759 SLC35B4 0 genome.wustl.edu 37 7 133979591 133979591 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 133979591 133979591 C A SNP SLC35B4 ENST00000378509 human ensembl 74_37 -1 known missense c.990 p.K330N 1.000 NULL pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35B4 HGNC ENSG00000205060 87 0 0 52 18 25.7143 BPGM 0 genome.wustl.edu 37 7 134346766 134346766 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 134346766 134346766 G T SNP BPGM ENST00000344924 human ensembl 74_37 +1 known missense c.507 p.W169C 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors BPGM HGNC ENSG00000172331 89 0 0 55 31 36.0465 CALD1 0 genome.wustl.edu 37 7 134552495 134552495 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 134552495 134552495 T G SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.11 p.F4C 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 27 0 0 11 9 45 CALD1 0 genome.wustl.edu 37 7 134613557 134613557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 134613557 134613557 C T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.124 p.R42C 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 62 0 0 29 26 47.2727 CALD1 0 genome.wustl.edu 37 7 134618087 134618087 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 134618087 134618087 A C SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.567 p.E189D 0.654 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 30 0 0 13 6 31.5789 C7orf49 0 genome.wustl.edu 37 7 134852550 134852550 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 134852550 134852550 C T SNP C7orf49 ENST00000393114 human ensembl 74_37 -1 known silent c.147 p.A49 0.000 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 72 0 0 39 13 25 FAM180A 0 genome.wustl.edu 37 7 135418926 135418926 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 135418926 135418926 G A SNP FAM180A ENST00000338588 human ensembl 74_37 -1 known missense c.319 p.L107F 1.000 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 175 0 0 84 54 39.1304 CHRM2 0 genome.wustl.edu 37 7 136700761 136700761 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 136700761 136700761 G T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.1149 p.K383N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 127 0 0 98 37 27.4074 DGKI 0 genome.wustl.edu 37 7 137151664 137151664 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 137151664 137151664 C T SNP DGKI ENST00000424189 human ensembl 74_37 -1 novel missense c.2531 p.R844Q 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 62 0 0 44 24 35.2941 AKR1D1 0 genome.wustl.edu 37 7 137776597 137776597 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 137776597 137776597 T G SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known missense c.345 p.D115E 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 133 0 0 68 37 35.2381 TRIM24 0 genome.wustl.edu 37 7 138223421 138223421 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 138223421 138223421 G A SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.1016 p.R339H 1.000 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 140 0 0 84 43 33.8583 ATP6V0A4 0 genome.wustl.edu 37 7 138413516 138413516 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 138413516 138413516 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.2000 p.R667Q 0.715 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 273 0 0 148 86 36.7521 KIAA1549 0 genome.wustl.edu 37 7 138602923 138602923 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 138602923 138602923 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.1449 p.T483 0.010 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 47 0 0 22 18 45 KIAA1549 0 genome.wustl.edu 37 7 138603839 138603839 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 138603839 138603839 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.533 p.I178T 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 214 0 0 94 52 35.6164 TTC26 0 genome.wustl.edu 37 7 138824735 138824735 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 138824735 138824735 G T SNP TTC26 ENST00000464848 human ensembl 74_37 +1 known missense c.334 p.A112S 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 91 0 0 64 30 31.9149 UBN2 0 genome.wustl.edu 37 7 138954246 138954246 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 138954246 138954246 A C SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.1573 p.K525Q 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 65 0 0 63 12 16 ETV1 0 genome.wustl.edu 37 7 13946202 13946202 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 13946202 13946202 T G SNP ETV1 ENST00000443137 human ensembl 74_37 -1 known missense c.1027 p.N343H 0.829 NULL pfam_ETS_PEA3_N - no_errors ETV1 HGNC ENSG00000006468 33 0 0 19 7 26.9231 ETV1 0 genome.wustl.edu 37 7 13971292 13971292 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 13971292 13971292 G A SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known missense c.637 p.R213C 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 80 0 0 31 21 40.3846 ETV1 0 genome.wustl.edu 37 7 13971370 13971370 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 13971370 13971370 G A SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known missense c.559 p.R187C 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 55 0 0 33 15 31.25 SLC37A3 0 genome.wustl.edu 37 7 140045060 140045060 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 140045060 140045060 G T SNP SLC37A3 ENST00000326232 human ensembl 74_37 -1 known missense c.1130 p.S377Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC ENSG00000157800 48 0 0 33 11 25 ETV1 0 genome.wustl.edu 37 7 14027729 14027729 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 14027729 14027729 G T SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known missense c.115 p.L39M 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 50 0 0 35 8 18.6047 BRAF 0 genome.wustl.edu 37 7 140501256 140501256 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 140501256 140501256 A G SNP BRAF ENST00000288602 human ensembl 74_37 -1 known silent c.816 p.C272 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 48 0 0 34 22 39.2857 MRPS33 0 genome.wustl.edu 37 7 140706259 140706259 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 140706259 140706259 C T SNP MRPS33 ENST00000324787 human ensembl 74_37 -1 known missense c.292 p.E98K 1.000 NULL pfam_Ribosomal_S27/S33_mit - no_errors MRPS33 HGNC ENSG00000090263 137 0 0 88 34 27.8689 WEE2-AS1 0 genome.wustl.edu 37 7 141420654 141420654 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 141420654 141420654 A C SNP WEE2-AS1 ENST00000484172 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors WEE2-AS1 HGNC ENSG00000228775 54 0 0 47 18 27.6923 OR9A4 0 genome.wustl.edu 37 7 141618771 141618771 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 141618771 141618771 T G SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.96 p.F32L 0.004 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 241 0 0 180 72 28.5714 MGAM 0 genome.wustl.edu 37 7 141705352 141705352 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 141705352 141705352 A C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.22 p.K8Q 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 13 0 0 8 4 33.3333 MGAM 0 genome.wustl.edu 37 7 141752213 141752213 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 141752213 141752213 C A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.2925 p.A975 0.094 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 31 0 0 30 3 9.09091 EPHB6 0 genome.wustl.edu 37 7 142568100 142568100 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142568100 142568100 C A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2741 p.A914E 0.982 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 244 0 0 117 49 29.5181 TRPV6 0 genome.wustl.edu 37 7 142583225 142583225 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142583225 142583225 G T SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.37 p.L13I 0.997 prints_TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 163 0 0 77 31 28.7037 TRPV5 0 genome.wustl.edu 37 7 142611833 142611833 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142611833 142611833 A G SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.1496 p.V499A 1.000 tigrfam_TRP_channel 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 28 0 0 29 5 14.7059 TRPV5 0 genome.wustl.edu 37 7 142622683 142622683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142622683 142622683 G A SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.1063 p.R355C 0.039 prints_TRPV5/TRPV6,tigrfam_TRP_channel 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 90 0 0 47 32 40.5063 TRPV5 0 genome.wustl.edu 37 7 142625919 142625919 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142625919 142625919 G A SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.629 p.T210I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,tigrfam_TRP_channel 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 136 0 0 64 34 34.6939 TRPV5 0 genome.wustl.edu 37 7 142626165 142626165 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142626165 142626165 G A SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.538 p.R180W 0.013 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt,tigrfam_TRP_channel 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 71 0 0 24 16 40 TMEM139 0 genome.wustl.edu 37 7 142983941 142983941 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 142983941 142983941 C A SNP TMEM139 ENST00000471161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM139 HGNC ENSG00000178826 174 0 0 99 35 26.1194 CLCN1 0 genome.wustl.edu 37 7 143047729 143047729 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143047729 143047729 C T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known silent c.2577 p.G859 0.280 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 260 1 0.383142 129 48 27.1186 ZYX 0 genome.wustl.edu 37 7 143087027 143087027 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143087027 143087027 T C SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.1571 p.V524A 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 136 0 0 85 20 19.0476 FAM115A 0 genome.wustl.edu 37 7 143573678 143573678 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143573678 143573678 G A SNP FAM115A ENST00000479870 human ensembl 74_37 -1 known silent c.24 p.F8 0.940 NULL NULL - no_errors FAM115A HGNC ENSG00000198420 101 0 0 37 37 50 OR2A2 0 genome.wustl.edu 37 7 143806743 143806743 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143806743 143806743 C T SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.68 p.A23V 0.287 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 149 0 0 70 50 41.6667 OR2A14 0 genome.wustl.edu 37 7 143826380 143826380 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143826380 143826380 T C SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known missense c.175 p.Y59H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 264 0 0 143 76 34.7032 OR2A14 0 genome.wustl.edu 37 7 143826408 143826408 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143826408 143826408 T C SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known missense c.203 p.V68A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 292 0 0 189 78 29.2135 CTAGE4 0 genome.wustl.edu 37 7 143881324 143881324 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143881324 143881324 A C SNP CTAGE4 ENST00000486333 human ensembl 74_37 +1 known missense c.728 p.K243T 0.008 superfamily_tRNA-bd_arm superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC ENSG00000225932 53 0 0 48 18 27.2727 ARHGEF35 0 genome.wustl.edu 37 7 143885366 143885366 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143885366 143885366 C T SNP ARHGEF35 ENST00000378115 human ensembl 74_37 -1 known silent c.111 p.G37 0.009 NULL NULL - no_errors ARHGEF35 HGNC ENSG00000213214 33 0 0 35 15 30 OR2A7 0 genome.wustl.edu 37 7 143956182 143956182 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 143956182 143956182 G T SNP OR2A7 ENST00000493325 human ensembl 74_37 -1 known silent c.540 p.I180 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 66 0 0 41 18 30.5085 OR2A1 0 genome.wustl.edu 37 7 144015689 144015689 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 144015689 144015689 C A SNP OR2A1 ENST00000408951 human ensembl 74_37 +1 known missense c.472 p.H158N 0.579 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A1 HGNC ENSG00000221970 70 0 0 46 10 17.8571 NOBOX 0 genome.wustl.edu 37 7 144098471 144098471 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 144098471 144098471 C A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.512 p.R171I 0.028 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 59 0 0 19 16 45.7143 DGKB 0 genome.wustl.edu 37 7 14613896 14613896 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 14613896 14613896 C A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1714 p.D572Y 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 229 0 0 138 80 36.6972 CNTNAP2 0 genome.wustl.edu 37 7 146997332 146997332 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 146997332 146997332 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1448 p.R483Q 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 104 0 0 60 35 36.8421 CNTNAP2 0 genome.wustl.edu 37 7 147092811 147092811 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 147092811 147092811 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1609 p.A537T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 243 0 0 138 62 31 DGKB 0 genome.wustl.edu 37 7 14741347 14741347 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 14741347 14741347 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.475 p.R159C 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 60 0 0 48 12 20 CNTNAP2 0 genome.wustl.edu 37 7 147600755 147600755 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 147600755 147600755 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2197 p.E733K 0.914 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 44 0 0 29 8 21.6216 CNTNAP2 0 genome.wustl.edu 37 7 147844725 147844725 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 147844725 147844725 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.2697 p.D899 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 122 0 0 65 42 39.2523 EZH2 0 genome.wustl.edu 37 7 148504761 148504761 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148504761 148504761 C T SNP EZH2 ENST00000320356 human ensembl 74_37 -1 known missense c.2233 p.E745K 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 16 0 0 8 8 50 ZNF786 0 genome.wustl.edu 37 7 148768115 148768115 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148768115 148768115 G T SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1749 p.H583Q 0.996 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 ZNF786 HGNC ENSG00000197362 57 0 0 35 16 31.3725 ZNF425 0 genome.wustl.edu 37 7 148800887 148800887 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148800887 148800887 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.2076 p.R692 0.992 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 186 0 0 72 48 40 ZNF425 0 genome.wustl.edu 37 7 148801117 148801117 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148801117 148801117 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1846 p.E616K 0.005 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 205 0 0 109 57 34.3373 ZNF425 0 genome.wustl.edu 37 7 148815333 148815333 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148815333 148815333 G A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.126 p.Y42 0.946 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 211 0 0 117 64 35.3591 ZNF212 0 genome.wustl.edu 37 7 148947428 148947428 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148947428 148947428 G A SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.203 p.R68H 0.749 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 150 0 0 73 43 37.069 ZNF212 0 genome.wustl.edu 37 7 148950967 148950967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 148950967 148950967 G A SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.949 p.E317K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 84 0 0 52 27 34.1772 ZNF746 0 genome.wustl.edu 37 7 149172249 149172249 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 149172249 149172249 C T SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known silent c.1164 p.P388 0.969 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 44 0 0 19 8 29.6296 SSPO 0 genome.wustl.edu 37 7 149473162 149473162 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 149473162 149473162 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 45 0 0 24 3 11.1111 SSPO 0 genome.wustl.edu 37 7 149498835 149498835 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 149498835 149498835 A G SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SSPO HGNC ENSG00000197558 48 0 0 20 14 41.1765 ZNF862 0 genome.wustl.edu 37 7 149558632 149558632 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 149558632 149558632 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.2383 p.R795C 0.981 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 26 0 0 13 4 23.5294 ZBED6CL 0 genome.wustl.edu 37 7 150028036 150028036 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 150028036 150028036 C T SNP ZBED6CL ENST00000343855 human ensembl 74_37 +1 known silent c.543 p.S181 0.001 NULL NULL - no_errors ZBED6CL HGNC ENSG00000188707 70 0 0 31 7 18.4211 GIMAP8 0 genome.wustl.edu 37 7 150174636 150174636 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 150174636 150174636 G A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1766 p.R589H 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 145 0 0 75 36 32.4324 AGAP3 0 genome.wustl.edu 37 7 150820860 150820860 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 150820860 150820860 G A SNP AGAP3 ENST00000485904 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AGAP3 HGNC ENSG00000133612 95 0 0 35 21 37.5 AGAP3 0 genome.wustl.edu 37 7 150837140 150837140 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 150837140 150837140 A C SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.1741 p.K581Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 23 0 0 13 3 18.75 NUB1 0 genome.wustl.edu 37 7 151042447 151042447 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 151042447 151042447 G T SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known missense c.84 p.K28N 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 29 0 0 20 11 35.4839 INTS1 0 genome.wustl.edu 37 7 1511249 1511249 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 1511249 1511249 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.6825 p.D2275 0.896 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 106 0 0 59 22 27.1605 PRKAG2 0 genome.wustl.edu 37 7 151265922 151265922 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 151265922 151265922 G A SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known silent c.1113 p.F371 1.000 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 94 0 0 64 27 29.6703 KMT2C 0 genome.wustl.edu 37 7 151845714 151845714 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 151845714 151845714 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.13469 p.A4490V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 157 0 0 87 39 30.9524 KMT2C 0 genome.wustl.edu 37 7 151935840 151935840 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 151935840 151935840 A C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.2604 p.I868M 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 111 0 0 78 32 29.0909 XRCC2 0 genome.wustl.edu 37 7 152345946 152345946 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 152345946 152345946 T C SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known silent c.624 p.E208 0.014 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 256 0 0 142 75 34.5622 DPP6 0 genome.wustl.edu 37 7 154681193 154681193 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 154681193 154681193 G T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known nonsense c.2404 p.E802* 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 15 0 0 11 5 31.25 DPP6 0 genome.wustl.edu 37 7 154684055 154684055 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 154684055 154684055 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.2463 p.D821 0.990 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 117 0 0 65 22 25.2874 RBM33 0 genome.wustl.edu 37 7 155473530 155473530 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 155473530 155473530 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known silent c.495 p.E165 0.593 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 47 0 0 35 17 32.6923 RBM33 0 genome.wustl.edu 37 7 155538228 155538228 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 155538228 155538228 A G SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2911 p.T971A 0.996 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 38 0 0 13 5 27.7778 SHH 0 genome.wustl.edu 37 7 155599139 155599139 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 155599139 155599139 G A SNP SHH ENST00000297261 human ensembl 74_37 -1 known missense c.413 p.S138F 1.000 pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,prints_Hedgehog pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 106 0 0 32 15 31.9149 SHH 0 genome.wustl.edu 37 7 155604547 155604547 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 155604547 155604547 T G SNP SHH ENST00000297261 human ensembl 74_37 -1 known missense c.270 p.E90D 1.000 pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 312 0 0 155 89 36.4754 RNF32 0 genome.wustl.edu 37 7 156437272 156437272 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 156437272 156437272 G A SNP RNF32 ENST00000317955 human ensembl 74_37 +1 known missense c.95 p.R32Q 0.001 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 51 0 0 52 24 31.5789 NOM1 0 genome.wustl.edu 37 7 156752741 156752741 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 156752741 156752741 T C SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1505 p.I502T 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 125 0 0 60 39 39.3939 DNAJB6 0 genome.wustl.edu 37 7 157177652 157177652 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 157177652 157177652 G A SNP DNAJB6 ENST00000262177 human ensembl 74_37 +1 known silent c.570 p.S190 0.001 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 154 0 0 66 41 38.3178 PTPRN2 0 genome.wustl.edu 37 7 157341698 157341698 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 157341698 157341698 T C SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.2987 p.D996G 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 108 0 0 50 34 40.4762 PTPRN2 0 genome.wustl.edu 37 7 157903532 157903532 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 157903532 157903532 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.1701 p.F567 0.004 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 14 0 0 1 6 85.7143 NCAPG2 0 genome.wustl.edu 37 7 158437017 158437017 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 158437017 158437017 A C SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.3344 p.F1115C 0.975 NULL pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 135 0 0 107 44 29.1391 WDR60 0 genome.wustl.edu 37 7 158715184 158715184 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 158715184 158715184 G A SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.2038 p.V680M 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 53 0 0 22 15 40.5405 ISPD 0 genome.wustl.edu 37 7 16255710 16255710 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 16255710 16255710 A C SNP ISPD ENST00000407010 human ensembl 74_37 -1 known missense c.1232 p.L411R 0.855 NULL pfam_IspD - no_errors ISPD HGNC ENSG00000214960 33 0 0 36 13 26.5306 ISPD 0 genome.wustl.edu 37 7 16255773 16255773 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 16255773 16255773 T C SNP ISPD ENST00000407010 human ensembl 74_37 -1 known missense c.1169 p.N390S 0.109 NULL pfam_IspD - no_errors ISPD HGNC ENSG00000214960 22 0 0 17 12 41.3793 SOSTDC1 0 genome.wustl.edu 37 7 16505131 16505131 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 16505131 16505131 T G SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known missense c.163 p.N55H 0.928 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 134 0 0 127 13 9.28571 ANKMY2 0 genome.wustl.edu 37 7 16650274 16650274 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 16650274 16650274 C A SNP ANKMY2 ENST00000306999 human ensembl 74_37 -1 known nonsense c.646 p.E216* 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY2 HGNC ENSG00000106524 92 0 0 70 23 24.7312 BZW2 0 genome.wustl.edu 37 7 16714185 16714185 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 16714185 16714185 C T SNP BZW2 ENST00000258761 human ensembl 74_37 +1 known silent c.207 p.F69 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 107 0 0 55 38 40.8602 AHR 0 genome.wustl.edu 37 7 17378642 17378642 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 17378642 17378642 G A SNP AHR ENST00000242057 human ensembl 74_37 +1 known missense c.1193 p.R398Q 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 130 0 0 88 42 32.3077 AHR 0 genome.wustl.edu 37 7 17379187 17379187 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 17379187 17379187 G T SNP AHR ENST00000242057 human ensembl 74_37 +1 known nonsense c.1738 p.E580* 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 186 0 0 103 60 36.8098 SNX13 0 genome.wustl.edu 37 7 17836501 17836501 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 17836501 17836501 G A SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known nonsense c.2575 p.R859* 0.993 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 115 0 0 92 40 30.303 SNX13 0 genome.wustl.edu 37 7 17854462 17854462 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 17854462 17854462 G A SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.2059 p.R687C 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 9 0 0 7 5 41.6667 SNX13 0 genome.wustl.edu 37 7 17890483 17890483 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 17890483 17890483 T C SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known silent c.942 p.L314 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 47 0 0 44 19 30.1587 HDAC9 0 genome.wustl.edu 37 7 18687588 18687588 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 18687588 18687588 G T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known nonsense c.1216 p.E406* 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 30 0 0 19 3 13.6364 HDAC9 0 genome.wustl.edu 37 7 18688191 18688191 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 18688191 18688191 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.1352 p.R451Q 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 111 0 0 78 36 31.5789 HDAC9 0 genome.wustl.edu 37 7 18975448 18975448 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 18975448 18975448 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.2820 p.T940 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 223 0 0 116 67 36.612 FERD3L 0 genome.wustl.edu 37 7 19184613 19184613 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 19184613 19184613 G A SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.373 p.R125W 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 85 0 0 50 24 32.4324 MACC1 0 genome.wustl.edu 37 7 20180649 20180649 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 20180649 20180649 C A SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known nonsense c.2479 p.E827* 1.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 121 0 0 88 32 26.6667 ITGB8 0 genome.wustl.edu 37 7 20420296 20420296 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 20420296 20420296 A C SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.643 p.N215H 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 126 0 0 76 37 32.7434 ABCB5 0 genome.wustl.edu 37 7 20682911 20682911 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 20682911 20682911 G A SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.419 p.R140Q 0.993 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 51 0 0 32 15 31.9149 SP8 0 genome.wustl.edu 37 7 20824181 20824181 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 20824181 20824181 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known missense c.1255 p.D419N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 21 0 0 12 8 40 DNAH11 0 genome.wustl.edu 37 7 21641066 21641066 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 21641066 21641066 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.3478 p.E1160* 0.814 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 70 0 0 49 23 31.9444 DNAH11 0 genome.wustl.edu 37 7 21721288 21721288 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 21721288 21721288 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.5468 p.S1823Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 93 0 0 66 30 31.25 DNAH11 0 genome.wustl.edu 37 7 21857846 21857846 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 21857846 21857846 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.10601 p.A3534V 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 53 0 0 33 17 34 RAPGEF5 0 genome.wustl.edu 37 7 22175722 22175722 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 22175722 22175722 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1891 p.A631T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 45 0 0 35 8 18.6047 FAM126A 0 genome.wustl.edu 37 7 22985298 22985298 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 22985298 22985298 A C SNP FAM126A ENST00000432176 human ensembl 74_37 -1 known missense c.1476 p.I492M 0.740 NULL pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 133 0 0 90 43 32.3308 NUPL2 0 genome.wustl.edu 37 7 23239806 23239806 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23239806 23239806 C T SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known silent c.714 p.S238 0.885 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 19 0 0 11 8 42.1053 GPNMB 0 genome.wustl.edu 37 7 23286505 23286505 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23286505 23286505 T G SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.29 p.F10C 0.924 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 110 0 0 89 46 34.0741 GPNMB 0 genome.wustl.edu 37 7 23306137 23306137 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23306137 23306137 A G SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known silent c.1056 p.G352 0.000 smart_PKD/Chitinase_dom pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 99 0 0 61 24 28.2353 GPNMB 0 genome.wustl.edu 37 7 23313281 23313281 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23313281 23313281 A C SNP GPNMB ENST00000470994 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors GPNMB HGNC ENSG00000136235 79 0 0 38 15 28.3019 IGF2BP3 0 genome.wustl.edu 37 7 23352069 23352069 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23352069 23352069 C A SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known missense c.1652 p.R551I 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 138 0 0 63 35 35.7143 TRA2A 0 genome.wustl.edu 37 7 23552632 23552632 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23552632 23552632 G A SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known missense c.406 p.R136C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 86 0 0 49 25 33.7838 FAM221A 0 genome.wustl.edu 37 7 23724207 23724207 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23724207 23724207 A C SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known missense c.155 p.N52T 1.000 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 54 0 0 46 22 32.3529 STK31 0 genome.wustl.edu 37 7 23811802 23811802 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 23811802 23811802 C T SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.1870 p.P624S 1.000 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 43 0 0 60 28 31.8182 EIF3B 0 genome.wustl.edu 37 7 2406181 2406181 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 2406181 2406181 C A SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.1311 p.F437L 1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 136 0 0 76 41 35.0427 EIF3B 0 genome.wustl.edu 37 7 2414218 2414218 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 2414218 2414218 C T SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known silent c.1866 p.F622 0.974 pfam_TIF_beta_prop-like,pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 168 0 0 90 36 28.5714 MPP6 0 genome.wustl.edu 37 7 24663347 24663347 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 24663347 24663347 G T SNP MPP6 ENST00000222644 human ensembl 74_37 +1 known missense c.61 p.D21Y 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 51 0 0 47 23 32.8571 NFE2L3 0 genome.wustl.edu 37 7 26225069 26225069 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 26225069 26225069 G A SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.1751 p.R584Q 1.000 pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 79 0 0 47 16 25.3968 HOXA-AS3 0 genome.wustl.edu 37 7 27186817 27186817 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 27186817 27186817 C T SNP HOXA-AS3 ENST00000518947 human ensembl 74_37 +1 known rna NULL NULL 0.219 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 20 0 0 16 6 27.2727 HIBADH 0 genome.wustl.edu 37 7 27669050 27669050 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 27669050 27669050 C A SNP HIBADH ENST00000265395 human ensembl 74_37 -1 known nonsense c.424 p.E142* 1.000 pfam_6PGDH_NADP-bd,tigrfam_IsoBut3OH_DH pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_IsoBut3OH_DH - no_errors HIBADH HGNC ENSG00000106049 97 0 0 71 49 40.8333 TAX1BP1 0 genome.wustl.edu 37 7 27831686 27831686 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 27831686 27831686 G A SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known missense c.1100 p.R367Q 1.000 pfam_CoCoA pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 103 0 0 53 28 34.5679 CPVL 0 genome.wustl.edu 37 7 29132288 29132288 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 29132288 29132288 T C SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.493 p.T165A 0.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 52 0 0 31 13 29.5455 CARD11 0 genome.wustl.edu 37 7 2946428 2946428 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 2946428 2946428 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.3309 p.C1103 1.000 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 83 0 0 32 17 34.6939 CARD11 0 genome.wustl.edu 37 7 2951926 2951926 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 2951926 2951926 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.3024 p.I1008 0.955 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 92 0 0 31 21 40.3846 CARD11 0 genome.wustl.edu 37 7 2974176 2974176 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 2974176 2974176 A C SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.1429 p.S477A 0.404 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 70 0 0 27 13 32.5 C7orf41 0 genome.wustl.edu 37 7 30185810 30185810 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 30185810 30185810 C T SNP C7orf41 ENST00000324453 human ensembl 74_37 +1 known silent c.180 p.S60 0.999 NULL NULL - no_errors C7orf41 HGNC ENSG00000180354 150 0 0 57 31 35.2273 INMT 0 genome.wustl.edu 37 7 30795377 30795377 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 30795377 30795377 G A SNP INMT ENST00000013222 human ensembl 74_37 +1 known silent c.702 p.Q234 0.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 188 0 0 94 42 30.8824 CCDC129 0 genome.wustl.edu 37 7 31611727 31611727 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31611727 31611727 A C SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.398 p.Q133P 0.796 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 36 0 0 18 10 35.7143 CCDC129 0 genome.wustl.edu 37 7 31682346 31682346 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31682346 31682346 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.1440 p.K480 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 84 0 0 37 14 27.451 CCDC129 0 genome.wustl.edu 37 7 31691657 31691657 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31691657 31691657 T C SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2894 p.I965T 0.007 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 19 0 0 12 5 29.4118 PPP1R17 0 genome.wustl.edu 37 7 31735144 31735144 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31735144 31735144 A C SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known missense c.144 p.K48N 0.956 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 132 0 0 96 45 31.9149 PPP1R17 0 genome.wustl.edu 37 7 31746890 31746890 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31746890 31746890 C T SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known missense c.461 p.A154V 0.999 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 65 0 0 36 15 29.4118 PDE1C 0 genome.wustl.edu 37 7 31855674 31855674 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31855674 31855674 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.1677 p.G559 0.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 243 0 0 120 77 39.0863 PDE1C 0 genome.wustl.edu 37 7 31862790 31862790 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 31862790 31862790 C T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.1479 p.P493 0.026 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 130 0 0 69 49 41.5254 KBTBD2 0 genome.wustl.edu 37 7 32909220 32909220 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 32909220 32909220 A G SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.1609 p.F537L 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 239 0 0 115 66 36.4641 KBTBD2 0 genome.wustl.edu 37 7 32910050 32910050 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 32910050 32910050 C A SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.779 p.R260I 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 81 0 0 58 27 31.7647 NT5C3A 0 genome.wustl.edu 37 7 33066500 33066500 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 33066500 33066500 G A SNP NT5C3A ENST00000242210 human ensembl 74_37 -1 known nonsense c.181 p.R61* 1.000 tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3A HGNC ENSG00000122643 63 0 0 39 22 36.0656 BBS9 0 genome.wustl.edu 37 7 33312691 33312691 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 33312691 33312691 C T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.770 p.A257V 0.023 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 204 0 0 129 62 32.4607 DPY19L2P1 0 genome.wustl.edu 37 7 35129829 35129829 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 35129829 35129829 A C SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 30 0 0 22 19 46.3415 DPY19L2P1 0 genome.wustl.edu 37 7 35129972 35129972 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 35129972 35129972 A C SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 142 0 0 122 71 36.7876 KIAA0895 0 genome.wustl.edu 37 7 36366482 36366482 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 36366482 36366482 C T SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.1450 p.E484K 0.988 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 144 0 0 84 46 35.3846 ANLN 0 genome.wustl.edu 37 7 36435908 36435908 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 36435908 36435908 A C SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.52 p.N18H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 73 0 0 55 26 32.0988 ANLN 0 genome.wustl.edu 37 7 36438957 36438957 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 36438957 36438957 A C SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.442 p.K148Q 0.961 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 96 0 0 39 22 36.0656 ANLN 0 genome.wustl.edu 37 7 36465637 36465637 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 36465637 36465637 A C SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.2762 p.H921P 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 27 0 0 33 21 38.8889 SDK1 0 genome.wustl.edu 37 7 3678674 3678674 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 3678674 3678674 T G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.497 p.F166C 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 26 0 0 21 10 32.2581 SDK1 0 genome.wustl.edu 37 7 3681706 3681706 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 3681706 3681706 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known nonsense c.682 p.E228* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 93 0 0 53 21 28.3784 NME8 0 genome.wustl.edu 37 7 37901645 37901645 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 37901645 37901645 G A SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.286 p.E96K 0.111 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 77 0 0 52 27 34.1772 NME8 0 genome.wustl.edu 37 7 37907312 37907312 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 37907312 37907312 C T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.630 p.F210 0.998 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 77 0 0 43 24 35.8209 SFRP4 0 genome.wustl.edu 37 7 37947093 37947093 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 37947093 37947093 C T SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.1029 p.P343 0.000 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 221 0 0 91 55 37.6712 EPDR1 0 genome.wustl.edu 37 7 37988556 37988556 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 37988556 37988556 T C SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known silent c.744 p.P248 0.003 pfam_Ependymin,smart_Ependymin,prints_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 146 0 0 73 35 32.4074 AMPH 0 genome.wustl.edu 37 7 38574563 38574563 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 38574563 38574563 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.118 p.E40K 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 71 0 0 48 19 28.3582 VPS41 0 genome.wustl.edu 37 7 38791871 38791871 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 38791871 38791871 G A SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.1831 p.R611C 1.000 pfam_Clathrin_H-chain/VPS_repeat,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 144 0 0 85 36 29.7521 VPS41 0 genome.wustl.edu 37 7 38796580 38796580 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 38796580 38796580 T C SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.1553 p.Y518C 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 51 0 0 38 18 32.1429 CDK13 0 genome.wustl.edu 37 7 40132606 40132606 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 40132606 40132606 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.3458 p.S1153L 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 260 0 0 150 72 32.4324 CDK13 0 genome.wustl.edu 37 7 40133992 40133992 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 40133992 40133992 G T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known nonsense c.3952 p.E1318* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 178 1 0.558659 85 66 43.7086 C7orf10 0 genome.wustl.edu 37 7 40228169 40228169 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 40228169 40228169 G A SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.323 p.R108Q 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 24 0 0 13 6 31.5789 SDK1 0 genome.wustl.edu 37 7 4116768 4116768 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 4116768 4116768 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3149 p.A1050V 0.053 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 73 0 0 39 16 29.0909 INHBA 0 genome.wustl.edu 37 7 41729180 41729180 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 41729180 41729180 A C SNP INHBA ENST00000464515 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors INHBA HGNC ENSG00000122641 42 0 0 30 10 25 GLI3 0 genome.wustl.edu 37 7 42003980 42003980 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 42003980 42003980 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4691 p.S1564Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 81 0 0 26 14 35 GLI3 0 genome.wustl.edu 37 7 42004153 42004153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 42004153 42004153 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.4518 p.F1506 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 109 0 0 49 17 25.7576 GLI3 0 genome.wustl.edu 37 7 42004714 42004714 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 42004714 42004714 T C SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3957 p.G1319 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 100 0 0 42 14 25 GLI3 0 genome.wustl.edu 37 7 42018306 42018306 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 42018306 42018306 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.1539 p.F513 0.985 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 95 0 0 45 23 33.8235 C7orf25 0 genome.wustl.edu 37 7 42949774 42949774 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 42949774 42949774 G A SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known silent c.900 p.V300 0.810 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 173 0 0 106 39 26.8966 BLVRA 0 genome.wustl.edu 37 7 43830923 43830923 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 43830923 43830923 C T SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known silent c.210 p.V70 0.673 pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 153 0 0 77 36 31.8584 BLVRA 0 genome.wustl.edu 37 7 43840110 43840110 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 43840110 43840110 C T SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known silent c.399 p.F133 0.995 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 93 0 0 45 18 28.5714 BLVRA 0 genome.wustl.edu 37 7 43846619 43846619 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 43846619 43846619 A C SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known missense c.676 p.N226H 0.939 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 97 0 0 45 20 30.7692 URGCP 0 genome.wustl.edu 37 7 43921522 43921522 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 43921522 43921522 G A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.147 p.C49 0.622 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 247 0 0 150 71 32.1267 AEBP1 0 genome.wustl.edu 37 7 44150348 44150348 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 44150348 44150348 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.1425 p.F475 0.998 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 266 0 0 120 60 33.3333 AEBP1 0 genome.wustl.edu 37 7 44153214 44153214 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 44153214 44153214 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.2831 p.R944Q 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 122 0 0 49 27 35.5263 GCK 0 genome.wustl.edu 37 7 44190669 44190669 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 44190669 44190669 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known silent c.372 p.F124 0.971 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 75 0 0 45 17 27.4194 YKT6 0 genome.wustl.edu 37 7 44251851 44251851 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 44251851 44251851 G A SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known silent c.567 p.R189 1.000 pfam_Synaptobrevin,pfscan_Synaptobrevin pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 278 0 0 146 74 33.6364 NPC1L1 0 genome.wustl.edu 37 7 44579499 44579499 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 44579499 44579499 T C SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.497 p.E166G 0.973 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 101 0 0 32 23 41.8182 DDX56 0 genome.wustl.edu 37 7 44609623 44609623 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 44609623 44609623 C T SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.1115 p.R372Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C 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,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 61 0 0 26 15 36.5854 TBRG4 0 genome.wustl.edu 37 7 45139956 45139956 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 45139956 45139956 G A SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known missense c.1864 p.R622C 0.991 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 57 0 0 22 16 42.1053 ADCY1 0 genome.wustl.edu 37 7 45662318 45662318 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 45662318 45662318 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.996 p.F332 0.550 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 37 0 0 22 10 31.25 ADCY1 0 genome.wustl.edu 37 7 45688281 45688281 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 45688281 45688281 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.1033 p.R345C 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 78 0 0 48 19 28.3582 ADCY1 0 genome.wustl.edu 37 7 45743055 45743055 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 45743055 45743055 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.2535 p.V845 0.013 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 75 0 0 48 23 32.3944 IGFBP1 0 genome.wustl.edu 37 7 45931546 45931546 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 45931546 45931546 G T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known nonsense c.535 p.E179* 0.949 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 52 0 0 36 14 28 TNS3 0 genome.wustl.edu 37 7 47341845 47341845 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 47341845 47341845 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.3483 p.I1161 0.011 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 100 1 0.990099 50 17 25.3731 C7orf65 0 genome.wustl.edu 37 7 47698352 47698352 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 47698352 47698352 G T SNP C7orf65 ENST00000408988 human ensembl 74_37 +1 putative missense c.132 p.K44N 0.002 NULL NULL - no_errors C7orf65 HGNC ENSG00000221845 40 0 0 24 12 33.3333 PKD1L1 0 genome.wustl.edu 37 7 47842892 47842892 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 47842892 47842892 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.7878 p.C2626 0.004 pfam_PKD1_2_channel pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 88 0 0 48 18 27.2727 PKD1L1 0 genome.wustl.edu 37 7 47894612 47894612 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 47894612 47894612 A C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.4727 p.F1576C 0.558 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 97 0 0 51 21 29.1667 PKD1L1 0 genome.wustl.edu 37 7 47898276 47898276 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 47898276 47898276 A G SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.4357 p.L1453 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 142 0 0 66 30 31.25 PKD1L1 0 genome.wustl.edu 37 7 47927693 47927693 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 47927693 47927693 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.2731 p.E911K 0.766 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 85 0 0 48 21 30.4348 ABCA13 0 genome.wustl.edu 37 7 48269512 48269512 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 48269512 48269512 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.723 p.S241 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 155 0 0 70 36 33.9623 ABCA13 0 genome.wustl.edu 37 7 48311639 48311639 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 48311639 48311639 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2376 p.K792N 0.005 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 59 0 0 42 15 26.3158 ABCA13 0 genome.wustl.edu 37 7 48311803 48311803 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 48311803 48311803 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2540 p.R847I 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 57 0 0 45 19 29.6875 ABCA13 0 genome.wustl.edu 37 7 48314151 48314151 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 48314151 48314151 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.4888 p.L1630F 0.050 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 210 0 0 126 72 36.3636 ABCA13 0 genome.wustl.edu 37 7 48315973 48315973 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 48315973 48315973 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.6710 p.F2237S 0.221 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 10 0 0 18 5 21.7391 ABCA13 0 genome.wustl.edu 37 7 48318153 48318153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 48318153 48318153 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.7362 p.T2454 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 108 0 0 104 32 23.5294 ZPBP 0 genome.wustl.edu 37 7 49977177 49977177 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 49977177 49977177 G A SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.1003 p.H335Y 0.998 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 159 0 0 82 51 38.3459 ZPBP 0 genome.wustl.edu 37 7 50023074 50023074 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 50023074 50023074 T G SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.825 p.E275D 1.000 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 39 0 0 37 18 32.7273 POM121L12 0 genome.wustl.edu 37 7 53103453 53103453 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 53103453 53103453 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.89 p.A30E 0.001 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 46 0 0 41 10 19.6078 TNRC18 0 genome.wustl.edu 37 7 5372633 5372633 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 5372633 5372633 T C SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.5767 p.K1923E 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 11 0 0 7 5 41.6667 TNRC18 0 genome.wustl.edu 37 7 5410840 5410840 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 5410840 5410840 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.3385 p.E1129K 0.994 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 56 0 0 19 10 34.4828 TNRC18 0 genome.wustl.edu 37 7 5415827 5415827 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 5415827 5415827 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.2637 p.P879 0.946 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 9 0 0 6 5 45.4545 VSTM2A 0 genome.wustl.edu 37 7 54617880 54617880 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 54617880 54617880 C T SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known silent c.648 p.F216 0.999 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 8 0 0 9 3 25 EGFR 0 genome.wustl.edu 37 7 55221711 55221711 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 55221711 55221711 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.755 p.R252H 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 141 0 0 73 37 33.6364 SEPT14 0 genome.wustl.edu 37 7 55912390 55912390 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 55912390 55912390 G A SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.197 p.S66L 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 47 0 0 28 15 34.8837 ZNF713 0 genome.wustl.edu 37 7 55990859 55990859 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 55990859 55990859 C A SNP ZNF713 ENST00000429591 human ensembl 74_37 +1 known nonsense c.53 p.S18* 0.999 superfamily_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 ZNF713 HGNC ENSG00000178665 108 0 0 66 6 8.33333 GBAS 0 genome.wustl.edu 37 7 56045869 56045869 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 56045869 56045869 C T SNP GBAS ENST00000322090 human ensembl 74_37 +1 known missense c.143 p.S48F 1.000 NULL pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors GBAS HGNC ENSG00000146729 170 0 0 93 33 26.1905 RNF216 0 genome.wustl.edu 37 7 5662563 5662563 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 5662563 5662563 G A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.2700 p.F900 0.045 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 292 0 0 126 76 37.6238 ZNF479 0 genome.wustl.edu 37 7 57187836 57187836 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 57187836 57187836 C A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.1286 p.R429I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 86 0 0 50 20 28.5714 ZNF479 0 genome.wustl.edu 37 7 57188256 57188256 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 57188256 57188256 C A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.866 p.R289I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 68 0 0 43 27 38.5714 ZNF716 0 genome.wustl.edu 37 7 57528892 57528892 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 57528892 57528892 G T SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.725 p.R242I 0.087 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 ZNF716 HGNC ENSG00000182111 18 0 0 14 17 54.8387 ZNF716 0 genome.wustl.edu 37 7 57529114 57529114 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 57529114 57529114 G T SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.947 p.R316I 0.995 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 ZNF716 HGNC ENSG00000182111 36 0 0 32 15 31.9149 ZNF716 0 genome.wustl.edu 37 7 57529466 57529466 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 57529466 57529466 G A SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known silent c.1299 p.E433 0.891 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 ZNF716 HGNC ENSG00000182111 16 0 0 20 5 20 ZNF716 0 genome.wustl.edu 37 7 57529580 57529580 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 57529580 57529580 A C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.1413 p.Q471H 0.772 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 ZNF716 HGNC ENSG00000182111 12 0 0 15 3 16.6667 RNF216 0 genome.wustl.edu 37 7 5780605 5780605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 5780605 5780605 G A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.1043 p.T348M 1.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 80 0 0 48 21 30.4348 RNF216 0 genome.wustl.edu 37 7 5792512 5792512 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 5792512 5792512 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.166 p.E56K 1.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 49 0 0 28 13 31.7073 ZNF727 0 genome.wustl.edu 37 7 63538506 63538506 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 63538506 63538506 G T SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.1079 p.R360I 0.998 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 ZNF727 HGNC ENSG00000257482 11 0 0 8 3 27.2727 ZNF727 0 genome.wustl.edu 37 7 63538809 63538809 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 63538809 63538809 T C SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.1382 p.F461S 0.808 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 ZNF727 HGNC ENSG00000257482 9 0 0 5 4 44.4444 ZNF736 0 genome.wustl.edu 37 7 63797318 63797318 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 63797318 63797318 C T SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known missense c.184 p.P62S 0.144 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 ZNF736 HGNC ENSG00000234444 14 0 0 9 3 25 ZNF680 0 genome.wustl.edu 37 7 63982024 63982024 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 63982024 63982024 T G SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.1108 p.K370Q 0.949 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 ZNF680 HGNC ENSG00000173041 41 0 0 33 16 32.6531 ZNF107 0 genome.wustl.edu 37 7 64167547 64167547 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64167547 64167547 A G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.865 p.K289E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 53 0 0 42 18 30 ZNF107 0 genome.wustl.edu 37 7 64167657 64167657 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64167657 64167657 G T SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.975 p.E325D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 46 0 0 36 9 20 ZNF273 0 genome.wustl.edu 37 7 64389307 64389307 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64389307 64389307 A C SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known missense c.1601 p.K534T 0.101 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 ZNF273 HGNC ENSG00000198039 98 0 0 70 39 35.7798 ZNF117 0 genome.wustl.edu 37 7 64439395 64439395 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64439395 64439395 C A SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.554 p.R185I 0.908 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 68 0 0 68 8 10.5263 INTS4L1 0 genome.wustl.edu 37 7 64639744 64639744 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64639744 64639744 G A SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 29 0 0 15 12 44.4444 ZNF92 0 genome.wustl.edu 37 7 64852845 64852845 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64852845 64852845 G T SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known nonsense c.34 p.E12* 0.036 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 ZNF92 HGNC ENSG00000146757 106 0 0 85 38 30.8943 ZNF92 0 genome.wustl.edu 37 7 64864067 64864067 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64864067 64864067 G A SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.1040 p.G347D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 34 0 0 36 13 26.5306 ZNF92 0 genome.wustl.edu 37 7 64864785 64864785 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 64864785 64864785 C T SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known silent c.1758 p.T586 0.988 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 71 0 0 48 13 21.3115 GUSB 0 genome.wustl.edu 37 7 65444478 65444478 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 65444478 65444478 T G SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.632 p.Y211S 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 118 0 0 61 31 33.6957 GTF2IRD1P1 0 genome.wustl.edu 37 7 66290287 66290287 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 66290287 66290287 T G SNP GTF2IRD1P1 ENST00000457166 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors GTF2IRD1P1 HGNC ENSG00000230583 24 0 0 6 4 40 GTF2IRD1P1 0 genome.wustl.edu 37 7 66304891 66304891 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 66304891 66304891 G A SNP GTF2IRD1P1 ENST00000457166 human ensembl 74_37 -1 known rna NULL NULL 0.730 - - - no_errors GTF2IRD1P1 HGNC ENSG00000230583 63 0 0 38 24 38.7097 ZNF12 0 genome.wustl.edu 37 7 6731035 6731035 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 6731035 6731035 C A SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known missense c.1538 p.R513I 0.957 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 102 0 0 79 33 29.4643 PMS2CL 0 genome.wustl.edu 37 7 6781334 6781334 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 6781334 6781334 A C SNP PMS2CL ENST00000431453 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors PMS2CL HGNC ENSG00000187953 21 0 0 17 11 39.2857 RSPH10B2 0 genome.wustl.edu 37 7 6805365 6805365 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 6805365 6805365 C T SNP RSPH10B2 ENST00000297186 human ensembl 74_37 +1 known missense c.602 p.T201M 0.995 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 113 0 0 67 14 17.284 CCZ1B 0 genome.wustl.edu 37 7 6851624 6851624 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 6851624 6851624 T A SNP CCZ1B ENST00000316731 human ensembl 74_37 -1 known missense c.913 p.T305S 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC ENSG00000146574 74 0 0 53 34 39.0805 WBSCR17 0 genome.wustl.edu 37 7 71177108 71177108 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 71177108 71177108 A G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1774 p.T592A 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 125 1 0.793651 46 22 32.3529 TYW1B 0 genome.wustl.edu 37 7 72081692 72081692 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 72081692 72081692 C T SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.628 p.E210K 1.000 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 158 0 0 78 35 30.9735 POM121 0 genome.wustl.edu 37 7 72413036 72413036 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 72413036 72413036 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.2504 p.A835V 0.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 22 0 0 3 8 72.7273 STAG3L3 0 genome.wustl.edu 37 7 72440591 72440591 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 72440591 72440591 A C SNP STAG3L3 ENST00000436857 human ensembl 74_37 -1 known rna NULL NULL 0.951 - - - no_errors STAG3L3 HGNC ENSG00000174353 13 0 0 7 5 41.6667 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657577 72657577 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 72657577 72657577 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 203 0 0 78 51 39.5349 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657673 72657673 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 72657673 72657673 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.256 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 226 0 0 107 61 36.3095 C1GALT1 0 genome.wustl.edu 37 7 7278086 7278086 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 7278086 7278086 G T SNP C1GALT1 ENST00000223122 human ensembl 74_37 +1 known missense c.421 p.D141Y 1.000 pfam_Fringe-like,pfam_Glyco_trans_31 pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 98 0 0 67 30 30.9278 C1GALT1 0 genome.wustl.edu 37 7 7278461 7278461 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 7278461 7278461 T A SNP C1GALT1 ENST00000223122 human ensembl 74_37 +1 known missense c.796 p.F266I 1.000 NULL pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 61 0 0 42 22 34.375 BAZ1B 0 genome.wustl.edu 37 7 72863979 72863979 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 72863979 72863979 T G SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.3621 p.K1207N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 83 0 0 39 32 45.0704 MLXIPL 0 genome.wustl.edu 37 7 73008305 73008305 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 73008305 73008305 T C SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.2449 p.N817D 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 76 0 0 28 19 40.4255 WBSCR28 0 genome.wustl.edu 37 7 73279635 73279635 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 73279635 73279635 G T SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known missense c.385 p.D129Y 0.085 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 82 0 0 39 17 30.3571 ELN 0 genome.wustl.edu 37 7 73471762 73471762 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 73471762 73471762 G A SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.1408 p.A470T 0.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 36 0 0 21 3 12.5 GTF2IRD1 0 genome.wustl.edu 37 7 73960133 73960133 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 73960133 73960133 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known nonsense c.1726 p.R576* 0.263 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 75 0 0 22 14 38.8889 GTF2IRD1 0 genome.wustl.edu 37 7 74015485 74015485 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 74015485 74015485 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.2789 p.S930L 0.019 NULL pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 29 0 0 12 4 25 GTF2IRD2 0 genome.wustl.edu 37 7 74211875 74211875 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 74211875 74211875 G T SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known nonsense c.1976 p.S659* 0.086 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 82 0 0 30 18 37.5 GTF2IRD2 0 genome.wustl.edu 37 7 74212283 74212283 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 74212283 74212283 A G SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known missense c.1568 p.V523A 0.219 NULL pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 49 0 0 24 6 20 GTF2IRD2B 0 genome.wustl.edu 37 7 74564459 74564459 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 74564459 74564459 T C SNP GTF2IRD2B ENST00000312575 human ensembl 74_37 +1 known missense c.2206 p.S736P 0.719 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 10 0 0 7 7 50 GTF2IRD2B 0 genome.wustl.edu 37 7 74565059 74565059 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 74565059 74565059 T C SNP GTF2IRD2B ENST00000312575 human ensembl 74_37 +1 known silent c.2806 p.L936 0.106 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 39 0 0 23 4 14.8148 COL28A1 0 genome.wustl.edu 37 7 7493131 7493131 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 7493131 7493131 T G SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.1380 p.Q460H 1.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 110 0 0 72 29 28.7129 POM121C 0 genome.wustl.edu 37 7 75052307 75052307 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 75052307 75052307 C T SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.1954 p.D652N 0.013 NULL NULL - no_errors POM121C HGNC ENSG00000135213 74 0 0 34 21 38.1818 LOC101927126 0 genome.wustl.edu 37 7 75738085 75738085 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 75738085 75738085 A C SNP LOC101927126 ENST00000434037 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors AC005077.12 Clone_based_vega_gene ENSG00000227038 10 0 0 11 6 35.2941 CCDC146 0 genome.wustl.edu 37 7 76916866 76916866 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 76916866 76916866 A C SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.2387 p.K796T 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 77 0 0 40 11 21.5686 CCDC146 0 genome.wustl.edu 37 7 76922474 76922474 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 76922474 76922474 G A SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.2621 p.R874Q 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 169 0 0 107 43 28.6667 PTPN12 0 genome.wustl.edu 37 7 77268548 77268548 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 77268548 77268548 G A SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.2294 p.R765Q 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 82 0 0 45 19 29.6875 TMEM60 0 genome.wustl.edu 37 7 77423307 77423307 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 77423307 77423307 G T SNP TMEM60 ENST00000257663 human ensembl 74_37 -1 known silent c.384 p.V128 0.982 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 91 0 0 64 30 31.9149 MAGI2 0 genome.wustl.edu 37 7 77789413 77789413 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 77789413 77789413 C T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2774 p.R925H 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 89 0 0 52 23 30.6667 MAGI2 0 genome.wustl.edu 37 7 77830508 77830508 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 77830508 77830508 A C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2050 p.F684V 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 44 0 0 39 15 27.7778 SEMA3C 0 genome.wustl.edu 37 7 80418725 80418725 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 80418725 80418725 C T SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known silent c.1305 p.R435 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 182 0 0 89 42 32.0611 PCLO 0 genome.wustl.edu 37 7 82390067 82390067 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 82390067 82390067 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15176 p.S5059Y 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 37 0 0 28 14 33.3333 PCLO 0 genome.wustl.edu 37 7 82578855 82578855 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 82578855 82578855 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.11049 p.K3683 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 350 1 0.2849 173 87 33.4615 PCLO 0 genome.wustl.edu 37 7 82579967 82579967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 82579967 82579967 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9937 p.R3313W 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 184 0 0 85 11 11.4583 PCLO 0 genome.wustl.edu 37 7 82583601 82583601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 82583601 82583601 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6668 p.S2223F 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 42 0 0 25 8 24.2424 PCLO 0 genome.wustl.edu 37 7 82764042 82764042 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 82764042 82764042 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.2824 p.A942T 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 43 0 0 33 14 29.7872 PCLO 0 genome.wustl.edu 37 7 82764221 82764221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 82764221 82764221 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.2645 p.R882Q 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 371 0 0 229 91 28.4375 SEMA3E 0 genome.wustl.edu 37 7 83032082 83032082 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 83032082 83032082 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known nonsense c.1009 p.R337* 0.961 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 45 0 0 29 13 30.9524 SEMA3A 0 genome.wustl.edu 37 7 83606510 83606510 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 83606510 83606510 C T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1655 p.R552H 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 91 0 0 81 23 22.1154 SEMA3A 0 genome.wustl.edu 37 7 83764139 83764139 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 83764139 83764139 C T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.241 p.D81N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 87 0 0 49 30 37.9747 GRM3 0 genome.wustl.edu 37 7 86416107 86416107 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 86416107 86416107 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.999 p.F333 0.995 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 67 0 0 29 14 32.5581 GRM3 0 genome.wustl.edu 37 7 86468223 86468223 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 86468223 86468223 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known nonsense c.1393 p.R465* 0.677 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 47 0 0 27 16 37.2093 KIAA1324L 0 genome.wustl.edu 37 7 86521160 86521160 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 86521160 86521160 T G SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2910 p.K970N 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 61 0 0 35 24 40.678 CROT 0 genome.wustl.edu 37 7 87005144 87005144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87005144 87005144 G A SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.751 p.A251T 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 70 0 0 57 7 10.9375 CROT 0 genome.wustl.edu 37 7 87020970 87020970 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87020970 87020970 G A SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.1367 p.R456Q 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 82 0 0 66 14 17.5 ABCB4 0 genome.wustl.edu 37 7 87092105 87092105 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87092105 87092105 A C SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.255 p.F85L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 71 0 0 77 6 7.22892 ABCB1 0 genome.wustl.edu 37 7 87144576 87144576 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87144576 87144576 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.3253 p.R1085W 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 74 0 0 49 23 31.9444 ABCB1 0 genome.wustl.edu 37 7 87150189 87150189 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87150189 87150189 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2689 p.A897T 0.997 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 68 0 0 36 22 37.931 ABCB1 0 genome.wustl.edu 37 7 87178674 87178674 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87178674 87178674 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1715 p.A572V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 68 0 0 34 18 34.6154 RUNDC3B 0 genome.wustl.edu 37 7 87436797 87436797 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87436797 87436797 A G SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.1117 p.T373A 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 72 0 0 63 31 32.9787 RUNDC3B 0 genome.wustl.edu 37 7 87459269 87459269 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87459269 87459269 T G SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.1346 p.L449R 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 112 0 0 74 27 26.7327 ADAM22 0 genome.wustl.edu 37 7 87759747 87759747 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87759747 87759747 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known silent c.798 p.A266 0.006 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 88 0 0 74 25 25.2525 ADAM22 0 genome.wustl.edu 37 7 87811315 87811315 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87811315 87811315 T G SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2552 p.F851C 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 75 0 0 56 27 32.5301 SRI 0 genome.wustl.edu 37 7 87840206 87840206 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87840206 87840206 T C SNP SRI ENST00000265729 human ensembl 74_37 -1 known silent c.240 p.S80 0.995 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SRI HGNC ENSG00000075142 56 0 0 34 40 54.0541 STEAP4 0 genome.wustl.edu 37 7 87912071 87912071 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 87912071 87912071 C T SNP STEAP4 ENST00000380079 human ensembl 74_37 -1 known missense c.869 p.R290Q 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 100 0 0 44 23 34.3284 ENSG00000207094 0 genome.wustl.edu 37 7 88078510 88078510 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 88078510 88078510 C T SNP ENSG00000207094 ENST00000384366 human ensembl 74_37 -1 novel rna NULL NULL 0.012 - - - no_errors SNORA67 RFAM ENSG00000207094 17 0 0 11 5 31.25 ZNF804B 0 genome.wustl.edu 37 7 88962747 88962747 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 88962747 88962747 T A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.451 p.F151I 0.992 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 64 0 0 54 21 28 ZNF804B 0 genome.wustl.edu 37 7 88964416 88964416 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 88964416 88964416 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2120 p.R707I 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 61 0 0 37 17 31.4815 ZNF804B 0 genome.wustl.edu 37 7 88965794 88965794 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 88965794 88965794 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known silent c.3498 p.Q1166 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 107 0 0 67 29 30.2083 ZNF804B 0 genome.wustl.edu 37 7 88966008 88966008 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 88966008 88966008 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3712 p.L1238I 0.717 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 222 0 0 123 54 30.5085 STEAP1 0 genome.wustl.edu 37 7 89790273 89790273 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 89790273 89790273 T G SNP STEAP1 ENST00000297205 human ensembl 74_37 +1 known missense c.239 p.I80S 0.040 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 209 0 0 119 56 32 AKAP9 0 genome.wustl.edu 37 7 91632062 91632062 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 91632062 91632062 A C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.2867 p.K956T 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 68 0 0 48 35 42.1687 AKAP9 0 genome.wustl.edu 37 7 91672072 91672072 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 91672072 91672072 T G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.5185 p.L1729V 0.667 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 92 0 0 63 29 31.5217 AKAP9 0 genome.wustl.edu 37 7 91699510 91699510 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 91699510 91699510 C A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.6533 p.T2178N 0.966 superfamily_Prefoldin pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 106 0 0 92 36 28.125 AKAP9 0 genome.wustl.edu 37 7 91707053 91707053 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 91707053 91707053 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.6845 p.A2282V 0.243 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 135 0 0 84 31 26.9565 AKAP9 0 genome.wustl.edu 37 7 91708440 91708440 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 91708440 91708440 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7029 p.I2343M 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 60 0 0 32 25 43.8596 ERVW-1 0 genome.wustl.edu 37 7 92098549 92098549 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 92098549 92098549 G A SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known nonsense c.1147 p.R383* 0.554 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 41 0 0 16 13 44.8276 PEX1 0 genome.wustl.edu 37 7 92143246 92143246 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 92143246 92143246 T G SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.1275 p.E425D 1.000 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 142 0 0 93 40 30.0752 CDK6 0 genome.wustl.edu 37 7 92247479 92247479 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 92247479 92247479 A C SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known silent c.741 p.V247 0.971 pfam_Prot_kinase_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 CDK6 HGNC ENSG00000105810 69 0 0 65 10 13.3333 SAMD9L 0 genome.wustl.edu 37 7 92762803 92762803 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 92762803 92762803 G A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known nonsense c.2482 p.R828* 0.000 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 142 0 0 42 87 67.4419 SAMD9L 0 genome.wustl.edu 37 7 92762825 92762825 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 92762825 92762825 G A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known silent c.2460 p.S820 0.000 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 134 0 0 88 43 32.8244 CCDC132 0 genome.wustl.edu 37 7 92923915 92923915 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 92923915 92923915 G T SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.1134 p.K378N 1.000 NULL pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 89 0 0 109 54 33.1288 COL1A2 0 genome.wustl.edu 37 7 94043236 94043236 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 94043236 94043236 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.1642 p.P548S 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 63 0 0 25 14 35.8974 COL1A2 0 genome.wustl.edu 37 7 94057135 94057135 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 94057135 94057135 C A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3464 p.S1155Y 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 68 0 0 43 21 32.8125 PEG10 0 genome.wustl.edu 37 7 94293682 94293682 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 94293682 94293682 G A SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.814 p.E272K 0.991 superfamily_Znf_CCHC pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 26 0 0 10 7 41.1765 PPP1R9A 0 genome.wustl.edu 37 7 94540365 94540365 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 94540365 94540365 G A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.940 p.D314N 0.016 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 62 0 0 48 12 20 PPP1R9A 0 genome.wustl.edu 37 7 94913409 94913409 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 94913409 94913409 C T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.3256 p.P1086S 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 47 0 0 40 22 35.4839 PON3 0 genome.wustl.edu 37 7 95001600 95001600 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 95001600 95001600 T G SNP PON3 ENST00000265627 human ensembl 74_37 -1 known missense c.252 p.K84N 0.984 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 75 0 0 51 41 44.5652 PDK4 0 genome.wustl.edu 37 7 95223071 95223071 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 95223071 95223071 C T SNP PDK4 ENST00000005178 human ensembl 74_37 -1 known missense c.284 p.S95N 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 82 0 0 58 26 30.9524 PDK4 0 genome.wustl.edu 37 7 95224379 95224379 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 95224379 95224379 C T SNP PDK4 ENST00000005178 human ensembl 74_37 -1 known silent c.228 p.P76 0.830 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 160 0 0 103 52 33.5484 SHFM1 0 genome.wustl.edu 37 7 96339061 96339061 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 96339061 96339061 C T SNP SHFM1 ENST00000449279 human ensembl 74_37 -1 known silent c.15 p.K5 1.000 pfam_DSS1_SEM1 pfam_DSS1_SEM1 - no_errors SHFM1 HGNC ENSG00000127922 218 0 0 128 47 26.8571 ASNS 0 genome.wustl.edu 37 7 97488685 97488685 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 97488685 97488685 C T SNP ASNS ENST00000175506 human ensembl 74_37 -1 known silent c.513 p.A171 0.000 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 111 0 0 48 20 29.4118 ASNS 0 genome.wustl.edu 37 7 97493736 97493736 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 97493736 97493736 C T SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.322 p.G108R 1.000 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 50 0 0 36 15 29.4118 TRRAP 0 genome.wustl.edu 37 7 98508728 98508728 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 98508728 98508728 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.1841 p.Y614C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 84 0 0 31 22 41.5094 TRRAP 0 genome.wustl.edu 37 7 98608819 98608819 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 98608819 98608819 T G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.11041 p.F3681V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 192 0 0 97 60 38.2166 SMURF1 0 genome.wustl.edu 37 7 98655153 98655153 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 98655153 98655153 C T SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known silent c.225 p.S75 0.778 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 49 0 0 33 12 26.6667 PDAP1 0 genome.wustl.edu 37 7 98995514 98995514 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 98995514 98995514 G A SNP PDAP1 ENST00000350498 human ensembl 74_37 -1 known missense c.458 p.A153V 1.000 pfam_Casein_kinase_sb_PP28 pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC ENSG00000106244 149 0 0 64 39 37.8641 ZNF655 0 genome.wustl.edu 37 7 99171030 99171030 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 99171030 99171030 G T SNP ZNF655 ENST00000424881 human ensembl 74_37 +1 known missense c.1404 p.E468D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 204 0 0 171 11 6.04396 ZNF655 0 genome.wustl.edu 37 7 99171035 99171035 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 99171035 99171035 C T SNP ZNF655 ENST00000424881 human ensembl 74_37 +1 known missense c.1409 p.S470L 0.846 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 214 0 0 133 52 28.1081 CYP3A7 0 genome.wustl.edu 37 7 99311124 99311124 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 99311124 99311124 G A SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known missense c.833 p.S278F 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 94 0 0 70 24 25.5319 CYP3A43 0 genome.wustl.edu 37 7 99447290 99447290 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 99447290 99447290 T A SNP CYP3A43 ENST00000222382 human ensembl 74_37 +1 known missense c.643 p.F215I 0.018 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 79 0 0 34 30 46.875 GAL3ST4 0 genome.wustl.edu 37 7 99757915 99757915 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 99757915 99757915 T C SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.1097 p.D366G 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 187 1 0.531915 77 49 38.8889 GPC2 0 genome.wustl.edu 37 7 99768093 99768093 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 7 99768093 99768093 G A SNP GPC2 ENST00000292377 human ensembl 74_37 -1 known silent c.1500 p.S500 0.934 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 34 0 0 18 8 30.7692 VPS13B 0 genome.wustl.edu 37 8 100168882 100168882 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 100168882 100168882 T C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.2119 p.Y707H 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 169 0 0 101 55 35.2564 VPS13B 0 genome.wustl.edu 37 8 100493895 100493895 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 100493895 100493895 T C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.3735 p.N1245 0.935 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 170 0 0 171 9 5 VPS13B 0 genome.wustl.edu 37 8 100568703 100568703 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 100568703 100568703 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known nonsense c.4846 p.R1616* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 61 0 0 39 12 23.5294 RGS22 0 genome.wustl.edu 37 8 101016202 101016202 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101016202 101016202 T G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.2579 p.K860T 0.998 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_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 75 0 0 51 26 33.7662 POLR2K 0 genome.wustl.edu 37 8 101164150 101164150 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101164150 101164150 C A SNP POLR2K ENST00000522439 human ensembl 74_37 +1 putative missense c.160 p.L54I 1.000 smart_RNAP_P/RPC10 pfam_RNAP_P/RPC10,smart_RNAP_P/RPC10 - no_errors POLR2K HGNC ENSG00000147669 38 0 0 29 20 40.8163 SPAG1 0 genome.wustl.edu 37 8 101174630 101174630 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101174630 101174630 A C SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.122 p.K41T 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 23 0 0 16 13 44.8276 SPAG1 0 genome.wustl.edu 37 8 101178199 101178199 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101178199 101178199 A C SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.298 p.K100Q 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 42 0 0 28 16 36.3636 SPAG1 0 genome.wustl.edu 37 8 101196205 101196205 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101196205 101196205 T C SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known silent c.510 p.C170 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 63 0 0 44 17 27.8689 SPAG1 0 genome.wustl.edu 37 8 101243400 101243400 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101243400 101243400 A C SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.1872 p.K624N 0.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 75 0 0 69 26 27.3684 ANKRD46 0 genome.wustl.edu 37 8 101540171 101540171 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 101540171 101540171 G T SNP ANKRD46 ENST00000520552 human ensembl 74_37 -1 known silent c.372 p.V124 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD46 HGNC ENSG00000186106 153 0 0 95 37 28.0303 UBR5 0 genome.wustl.edu 37 8 103357626 103357626 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 103357626 103357626 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.884 p.R295Q 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 17 0 0 8 6 42.8571 ODF1 0 genome.wustl.edu 37 8 103572953 103572953 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 103572953 103572953 C T SNP ODF1 ENST00000285402 human ensembl 74_37 +1 known silent c.594 p.I198 0.987 pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 91 0 0 49 11 18.3333 PRSS55 0 genome.wustl.edu 37 8 10396280 10396280 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 10396280 10396280 T C SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known silent c.1036 p.L346 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 289 0 0 84 68 44.7368 RP1L1 0 genome.wustl.edu 37 8 10466733 10466733 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 10466733 10466733 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.4875 p.G1625 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 47 0 0 11 19 63.3333 RP1L1 0 genome.wustl.edu 37 8 10469605 10469605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 10469605 10469605 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2003 p.S668F 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 189 0 0 36 33 47.8261 RIMS2 0 genome.wustl.edu 37 8 104897838 104897838 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 104897838 104897838 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1011 p.P337 0.977 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 46 0 0 32 24 42.8571 RIMS2 0 genome.wustl.edu 37 8 104922574 104922574 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 104922574 104922574 A C SNP RIMS2 ENST00000262231 human ensembl 74_37 +1 known missense c.1074 p.K358N 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 103 0 0 102 49 32.4503 RIMS2 0 genome.wustl.edu 37 8 105105866 105105866 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 105105866 105105866 A C SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.2889 p.K963N 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 64 0 0 45 13 22.4138 RIMS2 0 genome.wustl.edu 37 8 105261818 105261818 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 105261818 105261818 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known splice_site c.3691+2 e22+2 1.000 - - - no_errors RIMS2 HGNC ENSG00000176406 35 0 0 16 26 61.9048 RIMS2 0 genome.wustl.edu 37 8 105263353 105263353 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 105263353 105263353 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3793 p.L1265V 0.984 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 35 0 0 27 11 28.9474 LRP12 0 genome.wustl.edu 37 8 105503537 105503537 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 105503537 105503537 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1887 p.F629L 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 100 0 0 55 33 37.5 SOX7 0 genome.wustl.edu 37 8 10583616 10583616 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 10583616 10583616 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.955 p.G319S 0.002 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 82 0 0 34 3 8.10811 ANGPT1 0 genome.wustl.edu 37 8 108359229 108359229 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 108359229 108359229 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.394 p.T132A 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 154 0 0 79 34 30.0885 ANGPT1 0 genome.wustl.edu 37 8 108359247 108359247 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 108359247 108359247 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.376 p.T126A 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 159 0 0 82 35 29.9145 ANGPT1 0 genome.wustl.edu 37 8 108509744 108509744 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 108509744 108509744 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.43 p.T15A 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 59 0 0 26 20 43.4783 NUDCD1 0 genome.wustl.edu 37 8 110255496 110255496 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 110255496 110255496 A C SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known missense c.1494 p.F498L 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 204 0 0 138 81 36.9863 PKHD1L1 0 genome.wustl.edu 37 8 110448648 110448648 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 110448648 110448648 T G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.3587 p.I1196S 0.997 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 43 0 0 54 13 19.403 PKHD1L1 0 genome.wustl.edu 37 8 110477432 110477432 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 110477432 110477432 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8371 p.E2791K 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 77 0 0 41 30 42.2535 PKHD1L1 0 genome.wustl.edu 37 8 110534550 110534550 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 110534550 110534550 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.12167 p.D4056G 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 65 0 0 41 23 35.9375 SYBU 0 genome.wustl.edu 37 8 110590245 110590245 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 110590245 110590245 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.736 p.R246C 0.998 NULL NULL - no_errors SYBU HGNC ENSG00000147642 214 0 0 133 53 28.4946 CSMD3 0 genome.wustl.edu 37 8 113516067 113516067 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 113516067 113516067 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5035 p.R1679W 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 67 0 0 80 33 29.2035 CSMD3 0 genome.wustl.edu 37 8 113933929 113933929 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 113933929 113933929 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.1560 p.G520 0.004 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 CSMD3 HGNC ENSG00000164796 117 0 0 52 26 33.3333 BLK 0 genome.wustl.edu 37 8 11400775 11400775 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 11400775 11400775 G A SNP BLK ENST00000259089 human ensembl 74_37 +1 known silent c.42 p.P14 0.559 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 87 0 0 36 19 34.5455 CSMD3 0 genome.wustl.edu 37 8 114186077 114186077 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 114186077 114186077 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.583 p.D195N 0.576 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 CSMD3 HGNC ENSG00000164796 129 0 0 54 46 46 TRPS1 0 genome.wustl.edu 37 8 116631976 116631976 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 116631976 116631976 C A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known nonsense c.349 p.E117* 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 131 0 0 70 35 33.3333 AARD 0 genome.wustl.edu 37 8 117954953 117954953 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 117954953 117954953 G A SNP AARD ENST00000523536 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AARD HGNC ENSG00000205002 59 0 0 43 20 31.746 SLC30A8 0 genome.wustl.edu 37 8 118147548 118147548 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 118147548 118147548 G A SNP SLC30A8 ENST00000521035 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC30A8 HGNC ENSG00000164756 169 0 0 85 33 27.9661 SLC30A8 0 genome.wustl.edu 37 8 118159295 118159295 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 118159295 118159295 G A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known silent c.174 p.K58 0.001 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 156 0 0 101 35 25.7353 EXT1 0 genome.wustl.edu 37 8 118834767 118834767 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 118834767 118834767 A C SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1354 p.L452V 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 101 0 0 72 34 32.0755 EXT1 0 genome.wustl.edu 37 8 118834821 118834821 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 118834821 118834821 T G SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1300 p.I434L 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 99 0 0 53 36 40.4494 EXT1 0 genome.wustl.edu 37 8 119123272 119123272 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 119123272 119123272 T G SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.14 p.K5T 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 21 0 0 16 5 23.8095 USP17L2 0 genome.wustl.edu 37 8 11994797 11994797 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 11994797 11994797 C T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.1473 p.S491 0.000 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 43 0 0 8 16 66.6667 DSCC1 0 genome.wustl.edu 37 8 120865430 120865430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 120865430 120865430 C T SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known missense c.208 p.E70K 1.000 pfam_Sister_chromatid_cohesion_Dcc1 pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 99 0 0 40 36 47.3684 COL14A1 0 genome.wustl.edu 37 8 121210070 121210070 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 121210070 121210070 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.613 p.D205N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 88 0 0 52 19 26.7606 COL14A1 0 genome.wustl.edu 37 8 121216025 121216025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 121216025 121216025 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.955 p.E319K 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 65 0 0 30 19 38.7755 COL14A1 0 genome.wustl.edu 37 8 121296018 121296018 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 121296018 121296018 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known splice_site c.3967+1 e31+1 1.000 - - - no_errors COL14A1 HGNC ENSG00000187955 85 0 0 57 17 22.973 SNTB1 0 genome.wustl.edu 37 8 121823712 121823712 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 121823712 121823712 C T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known silent c.372 p.G124 1.000 pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 67 0 0 29 14 32.5581 SNTB1 0 genome.wustl.edu 37 8 121823882 121823882 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 121823882 121823882 A G SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.202 p.F68L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 31 0 0 15 7 31.8182 ZHX2 0 genome.wustl.edu 37 8 123964589 123964589 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 123964589 123964589 C A SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.839 p.S280Y 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 162 0 0 87 46 34.5865 DERL1 0 genome.wustl.edu 37 8 124027820 124027820 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 124027820 124027820 C T SNP DERL1 ENST00000259512 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 NULL pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 115 0 0 71 28 28.2828 TBC1D31 0 genome.wustl.edu 37 8 124096519 124096519 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 124096519 124096519 A G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.458 p.D153G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 206 0 0 102 52 33.7662 FBXO32 0 genome.wustl.edu 37 8 124546990 124546990 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 124546990 124546990 C T SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known missense c.181 p.A61T 1.000 NULL superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 124 0 0 63 31 32.9787 FAM91A1 0 genome.wustl.edu 37 8 124811872 124811872 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 124811872 124811872 G A SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.1673 p.R558Q 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 196 0 0 117 63 35 FAM91A1 0 genome.wustl.edu 37 8 124822600 124822600 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 124822600 124822600 A C SNP FAM91A1 ENST00000521166 human ensembl 74_37 +1 putative missense c.2340 p.K780N 0.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 103 0 0 92 27 22.6891 FER1L6 0 genome.wustl.edu 37 8 125113491 125113491 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 125113491 125113491 C A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.5037 p.F1679L 0.990 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 78 0 0 48 18 27.2727 TRMT12 0 genome.wustl.edu 37 8 125464172 125464172 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 125464172 125464172 T C SNP TRMT12 ENST00000328599 human ensembl 74_37 +1 known missense c.1004 p.I335T 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 85 0 0 60 26 30.2326 SQLE 0 genome.wustl.edu 37 8 126023790 126023790 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 126023790 126023790 G T SNP SQLE ENST00000265896 human ensembl 74_37 +1 known nonsense c.1120 p.E374* 1.000 pfam_Squalene_epoxidase,pfam_mOase_FAD-bd pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 13 0 0 6 4 40 NSMCE2 0 genome.wustl.edu 37 8 126194403 126194403 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 126194403 126194403 T G SNP NSMCE2 ENST00000287437 human ensembl 74_37 +1 known missense c.323 p.F108C 1.000 NULL pfscan_Znf_MIZ - no_errors NSMCE2 HGNC ENSG00000156831 113 0 0 89 58 39.4558 DLC1 0 genome.wustl.edu 37 8 12947955 12947955 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 12947955 12947955 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.3880 p.R1294C 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 102 0 0 31 26 45.614 ASAP1 0 genome.wustl.edu 37 8 131073177 131073177 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 131073177 131073177 G A SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2840 p.A947V 0.998 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 253 0 0 112 55 32.9341 EFR3A 0 genome.wustl.edu 37 8 132989322 132989322 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 132989322 132989322 C A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.1309 p.L437M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 64 0 0 45 21 31.8182 TG 0 genome.wustl.edu 37 8 133961170 133961170 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 133961170 133961170 G T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5383 p.D1795Y 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 160 0 0 72 35 32.7103 ST3GAL1 0 genome.wustl.edu 37 8 134474127 134474127 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 134474127 134474127 G T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known silent c.840 p.V280 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 209 0 0 101 54 34.8387 FAM135B 0 genome.wustl.edu 37 8 139163661 139163661 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 139163661 139163661 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.3057 p.T1019 0.186 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 81 0 0 53 24 31.1688 COL22A1 0 genome.wustl.edu 37 8 139701163 139701163 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 139701163 139701163 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.2859 p.E953D 0.997 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 142 1 0.699301 71 19 21.1111 PTK2 0 genome.wustl.edu 37 8 141749153 141749153 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 141749153 141749153 G A SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known nonsense c.1789 p.R597* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 80 0 0 44 20 31.25 DENND3 0 genome.wustl.edu 37 8 142154302 142154302 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 142154302 142154302 G T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.439 p.D147Y 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 87 0 0 46 33 41.7722 DENND3 0 genome.wustl.edu 37 8 142154308 142154308 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 142154308 142154308 G A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.445 p.A149T 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 90 0 0 53 23 30.2632 GML 0 genome.wustl.edu 37 8 143921918 143921918 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 143921918 143921918 G A SNP GML ENST00000220940 human ensembl 74_37 +1 known missense c.65 p.R22H 0.000 NULL smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 96 0 0 50 20 28.5714 CYP11B1 0 genome.wustl.edu 37 8 143958486 143958486 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 143958486 143958486 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.548 p.S183N 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 41 0 0 34 9 20.9302 CYP11B1 0 genome.wustl.edu 37 8 143961148 143961148 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 143961148 143961148 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.82 p.A28T 0.094 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 189 0 0 106 34 24.2857 CYP11B2 0 genome.wustl.edu 37 8 143996630 143996630 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 143996630 143996630 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.427 p.R143W 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 51 0 0 17 13 43.3333 CYP11B2 0 genome.wustl.edu 37 8 143999256 143999256 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 143999256 143999256 T G SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.1 p.M1L 0.039 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 266 0 0 159 43 21.2871 LY6H 0 genome.wustl.edu 37 8 144240240 144240240 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 144240240 144240240 C T SNP LY6H ENST00000342752 human ensembl 74_37 -1 known missense c.230 p.R77Q 0.952 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 190 0 0 75 36 32.4324 RHPN1 0 genome.wustl.edu 37 8 144461522 144461522 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 144461522 144461522 G A SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known silent c.789 p.A263 0.024 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 24 0 0 10 11 52.381 MROH6 0 genome.wustl.edu 37 8 144651955 144651955 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 144651955 144651955 C T SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known missense c.1214 p.R405Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 60 0 0 13 7 35 MROH6 0 genome.wustl.edu 37 8 144652503 144652503 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 144652503 144652503 C T SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known missense c.953 p.R318H 1.000 NULL superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 51 0 0 30 2 6.25 PYCRL 0 genome.wustl.edu 37 8 144690248 144690248 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 144690248 144690248 T C SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known missense c.176 p.N59S 1.000 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 78 0 0 39 19 32.7586 EPPK1 0 genome.wustl.edu 37 8 144940819 144940819 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 144940819 144940819 T C SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.6603 p.E2201 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 368 0 0 143 84 37.0044 MROH1 0 genome.wustl.edu 37 8 145223230 145223230 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 145223230 145223230 G A SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known missense c.55 p.D19N 0.997 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 37 0 0 17 8 32 ZNF252P 0 genome.wustl.edu 37 8 146202457 146202457 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 146202457 146202457 A C SNP ZNF252P ENST00000426361 human ensembl 74_37 -1 known rna NULL NULL 0.702 - - - no_errors ZNF252P HGNC ENSG00000196922 8 0 0 6 6 50 TUSC3 0 genome.wustl.edu 37 8 15588214 15588214 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 15588214 15588214 G T SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known nonsense c.838 p.E280* 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 40 0 0 13 10 43.4783 MSR1 0 genome.wustl.edu 37 8 16026226 16026226 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 16026226 16026226 C A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.371 p.R124I 0.798 pfam_Macro_scav_rcpt,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 269 0 0 87 66 43.1373 MSR1 0 genome.wustl.edu 37 8 16026290 16026290 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 16026290 16026290 C A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.307 p.D103Y 0.172 NULL pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 206 1 0.483092 75 57 43.1818 VPS37A 0 genome.wustl.edu 37 8 17142068 17142068 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 17142068 17142068 C A SNP VPS37A ENST00000324849 human ensembl 74_37 +1 known missense c.1056 p.F352L 1.000 pfam_Mod_r pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 125 0 0 43 43 50 MTUS1 0 genome.wustl.edu 37 8 17613066 17613066 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 17613066 17613066 T G SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.251 p.K84T 0.026 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 122 0 0 48 47 49.4737 ARHGEF10 0 genome.wustl.edu 37 8 1842726 1842726 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 1842726 1842726 C A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1503 p.V501 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 71 0 0 21 15 41.6667 PSD3 0 genome.wustl.edu 37 8 18656857 18656857 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 18656857 18656857 A G SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.2030 p.V677A 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 75 0 0 21 23 52.2727 ARHGEF10 0 genome.wustl.edu 37 8 1904965 1904965 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 1904965 1904965 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.3646 p.V1216I 0.016 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 81 0 0 31 21 40.3846 CSGALNACT1 0 genome.wustl.edu 37 8 19315279 19315279 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 19315279 19315279 G A SNP CSGALNACT1 ENST00000518542 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSGALNACT1 HGNC ENSG00000147408 26 0 0 11 10 47.619 LPL 0 genome.wustl.edu 37 8 19811702 19811702 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 19811702 19811702 T G SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.613 p.F205V 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 172 0 0 44 52 54.1667 LPL 0 genome.wustl.edu 37 8 19813404 19813404 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 19813404 19813404 C T SNP LPL ENST00000311322 human ensembl 74_37 +1 known silent c.828 p.I276 0.965 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 143 0 0 26 30 53.5714 MYOM2 0 genome.wustl.edu 37 8 2037977 2037977 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 2037977 2037977 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1791 p.S597 0.763 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 87 0 0 21 24 53.3333 XPO7 0 genome.wustl.edu 37 8 21833868 21833868 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 21833868 21833868 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.626 p.A209V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 264 0 0 81 66 44.898 XPO7 0 genome.wustl.edu 37 8 21848324 21848324 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 21848324 21848324 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known silent c.1962 p.S654 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 205 1 0.485437 46 45 49.4505 LGI3 0 genome.wustl.edu 37 8 22006386 22006386 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 22006386 22006386 T C SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.934 p.T312A 1.000 NULL pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 71 0 0 12 12 50 PIWIL2 0 genome.wustl.edu 37 8 22172631 22172631 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 22172631 22172631 T C SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known silent c.2181 p.G727 0.999 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 120 1 0.826446 25 31 55.3571 ADAMDEC1 0 genome.wustl.edu 37 8 24254940 24254940 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 24254940 24254940 C T SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known nonsense c.598 p.R200* 0.419 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 207 0 0 70 81 53.6424 DOCK5 0 genome.wustl.edu 37 8 25227129 25227129 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 25227129 25227129 G A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.3496 p.E1166K 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 35 0 0 5 8 61.5385 KCTD9 0 genome.wustl.edu 37 8 25296817 25296817 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 25296817 25296817 T C SNP KCTD9 ENST00000221200 human ensembl 74_37 -1 known silent c.477 p.V159 0.991 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 46 0 0 14 12 46.1538 SDAD1P1 0 genome.wustl.edu 37 8 26238429 26238429 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 26238429 26238429 C A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 99 0 0 42 33 44 PTK2B 0 genome.wustl.edu 37 8 27300491 27300491 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 27300491 27300491 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known silent c.2139 p.P713 0.993 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 117 0 0 17 30 63.8298 CSMD1 0 genome.wustl.edu 37 8 2824263 2824263 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 2824263 2824263 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8932 p.S2978P 1.000 superfamily_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 30 0 0 8 9 52.9412 TEX15 0 genome.wustl.edu 37 8 30699651 30699651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 30699651 30699651 G A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.6883 p.P2295S 0.001 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 91 0 0 17 23 57.5 TEX15 0 genome.wustl.edu 37 8 30701056 30701056 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 30701056 30701056 T G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.5478 p.E1826D 0.994 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 81 0 0 39 26 40 TEX15 0 genome.wustl.edu 37 8 30703661 30703661 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 30703661 30703661 G T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.2873 p.S958* 0.889 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 136 1 0.729927 56 49 46.6667 CSMD1 0 genome.wustl.edu 37 8 3205548 3205548 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 3205548 3205548 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3443 p.R1148Q 0.001 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 CSMD1 HGNC ENSG00000183117 23 0 0 5 8 61.5385 RAB11FIP1 0 genome.wustl.edu 37 8 37734802 37734802 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 37734802 37734802 C A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.639 p.K213N 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 293 0 0 73 67 47.8571 DDHD2 0 genome.wustl.edu 37 8 38090720 38090720 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 38090720 38090720 G A SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known missense c.208 p.A70T 0.996 pfam_WWE-dom,pfscan_WWE-dom pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 130 0 0 27 33 55 KAT6A 0 genome.wustl.edu 37 8 41789996 41789996 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 41789996 41789996 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.5742 p.M1914I 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 163 0 0 82 32 28.0702 KAT6A 0 genome.wustl.edu 37 8 41794925 41794925 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 41794925 41794925 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.3201 p.I1067 0.993 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 150 0 0 79 37 31.8966 KAT6A 0 genome.wustl.edu 37 8 41832248 41832248 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 41832248 41832248 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.1456 p.R486C 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 123 0 0 72 36 33.3333 AP3M2 0 genome.wustl.edu 37 8 42023053 42023053 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42023053 42023053 C T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known silent c.778 p.L260 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 237 1 0.420168 130 65 33.3333 IKBKB 0 genome.wustl.edu 37 8 42129664 42129664 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42129664 42129664 G A SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known missense c.46 p.E16K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 175 0 0 99 38 27.7372 CHRNB3 0 genome.wustl.edu 37 8 42587006 42587006 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42587006 42587006 A C SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.556 p.I186L 0.045 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_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 97 0 0 72 16 18.1818 CHRNA6 0 genome.wustl.edu 37 8 42612120 42612120 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42612120 42612120 G A SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.325 p.R109C 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 162 0 0 85 50 37.037 CHRNA6 0 genome.wustl.edu 37 8 42620276 42620276 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42620276 42620276 G A SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.151 p.P51S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 199 0 0 104 58 35.8025 HOOK3 0 genome.wustl.edu 37 8 42761366 42761366 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42761366 42761366 G A SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.108 p.T36 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 101 0 0 60 30 33.3333 HOOK3 0 genome.wustl.edu 37 8 42828481 42828481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42828481 42828481 A C SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1172 p.K391T 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 45 0 0 49 27 35.5263 HOOK3 0 genome.wustl.edu 37 8 42865454 42865454 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 42865454 42865454 A C SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1745 p.K582T 1.000 pfam_Hook-related_fam,superfamily_t-SNARE pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 18 0 0 21 7 25 POTEA 0 genome.wustl.edu 37 8 43197428 43197428 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 43197428 43197428 G T SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors POTEA HGNC ENSG00000188877 95 0 0 54 25 31.6456 SPIDR 0 genome.wustl.edu 37 8 48352951 48352951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 48352951 48352951 C T SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.944 p.A315V 0.993 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 94 0 0 69 30 30.303 PRKDC 0 genome.wustl.edu 37 8 48769854 48769854 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 48769854 48769854 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6469 p.R2157C 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 59 0 0 33 16 32.6531 PRKDC 0 genome.wustl.edu 37 8 48794568 48794568 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 48794568 48794568 G T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.4864 p.L1622M 0.988 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 126 1 0.787402 73 29 28.4314 PRKDC 0 genome.wustl.edu 37 8 48815210 48815210 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 48815210 48815210 A C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.3188 p.L1063R 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 51 0 0 26 9 25.7143 MCM4 0 genome.wustl.edu 37 8 48885587 48885587 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 48885587 48885587 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.2099 p.P700L 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 51 0 0 19 11 36.6667 EFCAB1 0 genome.wustl.edu 37 8 49642308 49642308 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 49642308 49642308 C A SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.442 p.D148Y 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 41 0 0 41 19 31.6667 SNAI2 0 genome.wustl.edu 37 8 49832466 49832466 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 49832466 49832466 C A SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.614 p.R205I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 125 0 0 77 41 34.7458 PXDNL 0 genome.wustl.edu 37 8 52252189 52252189 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 52252189 52252189 C A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known nonsense c.4141 p.E1381* 0.001 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 100 0 0 68 31 31.3131 ST18 0 genome.wustl.edu 37 8 53055523 53055523 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 53055523 53055523 A C SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2135 p.L712R 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 113 0 0 96 8 7.69231 FAM150A 0 genome.wustl.edu 37 8 53454968 53454968 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 53454968 53454968 G T SNP FAM150A ENST00000358543 human ensembl 74_37 -1 known missense c.228 p.F76L 1.000 NULL NULL - no_errors FAM150A HGNC ENSG00000196711 34 0 0 46 17 26.9841 RB1CC1 0 genome.wustl.edu 37 8 53596199 53596199 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 53596199 53596199 C T SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.279 p.S93 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 58 0 0 34 31 47.6923 TCEA1 0 genome.wustl.edu 37 8 54899528 54899528 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 54899528 54899528 T C SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known splice_site c.523+1 e6+1 1.000 - - - no_errors TCEA1 HGNC ENSG00000187735 14 0 0 8 5 38.4615 LYPLA1 0 genome.wustl.edu 37 8 54960520 54960520 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 54960520 54960520 T G SNP LYPLA1 ENST00000519272 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors LYPLA1 HGNC ENSG00000120992 24 0 0 25 9 26.4706 RP1 0 genome.wustl.edu 37 8 55539553 55539553 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 55539553 55539553 A C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3111 p.K1037N 0.005 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 206 0 0 132 70 34.6535 RP1 0 genome.wustl.edu 37 8 55540960 55540960 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 55540960 55540960 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.4518 p.L1506 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 53 0 0 76 8 9.52381 RP1 0 genome.wustl.edu 37 8 55542456 55542456 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 55542456 55542456 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.6014 p.R2005K 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 68 0 0 44 26 37.1429 XKR4 0 genome.wustl.edu 37 8 56270279 56270279 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 56270279 56270279 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.848 p.S283N 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 133 0 0 62 17 21.519 RPS20 0 genome.wustl.edu 37 8 56985618 56985618 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 56985618 56985618 A C SNP RPS20 ENST00000520490 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS20 HGNC ENSG00000008988 75 0 0 32 22 40.7407 CYP7A1 0 genome.wustl.edu 37 8 59409434 59409434 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 59409434 59409434 C T SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known missense c.637 p.D213N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 166 0 0 74 39 34.5133 SDCBP 0 genome.wustl.edu 37 8 59488523 59488523 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 59488523 59488523 G A SNP SDCBP ENST00000260130 human ensembl 74_37 +1 known missense c.305 p.G102E 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 157 0 0 96 50 34.2466 CA8 0 genome.wustl.edu 37 8 61121466 61121466 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 61121466 61121466 G A SNP CA8 ENST00000317995 human ensembl 74_37 -1 known nonsense c.751 p.R251* 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA8 HGNC ENSG00000178538 68 0 0 47 19 28.7879 CHD7 0 genome.wustl.edu 37 8 61693639 61693639 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 61693639 61693639 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.1746 p.K582 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 16 0 0 11 5 31.25 ASPH 0 genome.wustl.edu 37 8 62563669 62563669 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 62563669 62563669 C T SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.430 p.E144K 0.953 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 61 0 0 46 27 36.9863 ARMC1 0 genome.wustl.edu 37 8 66539626 66539626 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 66539626 66539626 G T SNP ARMC1 ENST00000276569 human ensembl 74_37 -1 known missense c.8 p.S3Y 0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ENSG00000104442 145 0 0 66 34 34 TRIM55 0 genome.wustl.edu 37 8 67047359 67047359 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 67047359 67047359 C T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.476 p.A159V 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 155 0 0 83 40 32.5203 RRS1 0 genome.wustl.edu 37 8 67341435 67341435 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 67341435 67341435 C T SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known silent c.69 p.R23 1.000 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 40 0 0 20 5 20 VCPIP1 0 genome.wustl.edu 37 8 67578876 67578876 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 67578876 67578876 A G SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known silent c.318 p.V106 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 96 0 0 55 5 8.33333 C8orf44 0 genome.wustl.edu 37 8 67591956 67591956 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 67591956 67591956 G A SNP C8orf44 ENST00000390159 human ensembl 74_37 +1 known missense c.247 p.V83I 0.000 NULL NULL - no_errors C8orf44 HGNC ENSG00000213865 72 0 0 38 20 34.4828 COPS5 0 genome.wustl.edu 37 8 67974198 67974198 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 67974198 67974198 T C SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known missense c.34 p.T12A 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 116 0 0 61 34 35.7895 CSPP1 0 genome.wustl.edu 37 8 68007713 68007713 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 68007713 68007713 A C SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.696 p.E232D 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 89 0 0 51 40 43.956 CSPP1 0 genome.wustl.edu 37 8 68030586 68030586 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 68030586 68030586 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.1585 p.D529N 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 180 0 0 99 50 33.557 ARFGEF1 0 genome.wustl.edu 37 8 68130137 68130137 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 68130137 68130137 C T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.4493 p.R1498Q 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 96 0 0 58 32 35.5556 ARFGEF1 0 genome.wustl.edu 37 8 68208748 68208748 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 68208748 68208748 T G SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.557 p.K186T 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 98 0 0 50 34 40.4762 PREX2 0 genome.wustl.edu 37 8 68992692 68992692 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 68992692 68992692 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1657 p.E553K 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom 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 56 0 0 50 26 34.2105 PREX2 0 genome.wustl.edu 37 8 69136820 69136820 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 69136820 69136820 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4734 p.K1578N 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 63 0 0 50 22 30.5556 C8orf34 0 genome.wustl.edu 37 8 69633596 69633596 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 69633596 69633596 A G SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1328 p.D443G 0.992 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 43 0 0 29 15 34.0909 SLCO5A1 0 genome.wustl.edu 37 8 70585235 70585235 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 70585235 70585235 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2416 p.E806K 1.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 118 0 0 60 31 34.0659 NCOA2 0 genome.wustl.edu 37 8 71033568 71033568 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71033568 71033568 T C SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.4352 p.D1451G 0.999 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 28 0 0 16 6 27.2727 NCOA2 0 genome.wustl.edu 37 8 71068536 71068536 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71068536 71068536 T G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2064 p.K688N 0.996 pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 133 0 0 85 7 7.6087 NCOA2 0 genome.wustl.edu 37 8 71075749 71075749 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71075749 71075749 T G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.783 p.R261S 0.956 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 68 0 0 36 17 32.0755 NCOA2 0 genome.wustl.edu 37 8 71082507 71082507 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71082507 71082507 T G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.471 p.K157N 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 30 0 0 20 4 16.6667 NCOA2 0 genome.wustl.edu 37 8 71126174 71126174 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71126174 71126174 C A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known nonsense c.223 p.E75* 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 19 0 0 9 3 25 TRAM1 0 genome.wustl.edu 37 8 71495976 71495976 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71495976 71495976 G T SNP TRAM1 ENST00000262213 human ensembl 74_37 -1 known missense c.799 p.L267I 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC ENSG00000067167 141 1 0.704225 87 54 38.2979 LACTB2 0 genome.wustl.edu 37 8 71553193 71553193 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 71553193 71553193 G A SNP LACTB2 ENST00000276590 human ensembl 74_37 -1 known missense c.685 p.R229C 0.173 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors LACTB2 HGNC ENSG00000147592 33 0 0 28 19 40.4255 EYA1 0 genome.wustl.edu 37 8 72246342 72246342 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 72246342 72246342 G T SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.192 p.F64L 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 82 0 0 51 28 35.443 MSC 0 genome.wustl.edu 37 8 72756409 72756409 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 72756409 72756409 G A SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.5 p.S2F 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 69 0 0 33 21 38.8889 TRPA1 0 genome.wustl.edu 37 8 72973946 72973946 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 72973946 72973946 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.858 p.E286D 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 94 0 0 71 25 26.0417 TRPA1 0 genome.wustl.edu 37 8 72983961 72983961 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 72983961 72983961 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.253 p.D85Y 0.328 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 55 0 0 42 19 31.1475 LY96 0 genome.wustl.edu 37 8 74922307 74922307 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 74922307 74922307 G T SNP LY96 ENST00000284818 human ensembl 74_37 +1 known nonsense c.274 p.E92* 0.972 pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY96 HGNC ENSG00000154589 92 0 0 63 30 32.2581 JPH1 0 genome.wustl.edu 37 8 75233263 75233263 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 75233263 75233263 G T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known nonsense c.260 p.S87* 1.000 pfam_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 46 0 0 46 17 26.9841 ZFHX4 0 genome.wustl.edu 37 8 77617005 77617005 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 77617005 77617005 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.682 p.R228C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 45 0 0 42 15 26.3158 ZFHX4 0 genome.wustl.edu 37 8 77617895 77617895 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 77617895 77617895 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.1572 p.S524 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 48 0 0 32 13 28.8889 ZFHX4 0 genome.wustl.edu 37 8 77763421 77763421 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 77763421 77763421 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4264 p.R1422W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 51 0 0 25 13 34.2105 ZFHX4 0 genome.wustl.edu 37 8 77764977 77764977 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 77764977 77764977 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.5820 p.G1940 0.003 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 60 0 0 48 19 28.3582 ZFHX4 0 genome.wustl.edu 37 8 77766413 77766413 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 77766413 77766413 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7256 p.S2419Y 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 19 0 0 18 9 33.3333 ZNF705B 0 genome.wustl.edu 37 8 7807605 7807605 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 7807605 7807605 G T SNP ZNF705B ENST00000400120 human ensembl 74_37 +1 known nonsense c.190 p.E64* 0.399 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705B HGNC ENSG00000215356 80 0 0 73 10 12.0482 ZC2HC1A 0 genome.wustl.edu 37 8 79629691 79629691 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 79629691 79629691 T C SNP ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known missense c.941 p.F314S 1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 168 0 0 125 45 26.4706 STMN2 0 genome.wustl.edu 37 8 80567157 80567157 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 80567157 80567157 C T SNP STMN2 ENST00000220876 human ensembl 74_37 +1 known nonsense c.340 p.R114* 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN2 HGNC ENSG00000104435 58 0 0 23 18 43.9024 PAG1 0 genome.wustl.edu 37 8 81888912 81888912 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 81888912 81888912 G A SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known missense c.1166 p.A389V 0.997 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 98 0 0 49 23 31.9444 SGK223 0 genome.wustl.edu 37 8 8235348 8235348 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 8235348 8235348 C A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known nonsense c.571 p.E191* 0.025 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 165 0 0 39 32 45.0704 FABP4 0 genome.wustl.edu 37 8 82390939 82390939 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 82390939 82390939 A C SNP FABP4 ENST00000518669 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FABP4 HGNC ENSG00000170323 11 0 0 7 5 41.6667 ZFAND1 0 genome.wustl.edu 37 8 82615252 82615252 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 82615252 82615252 G A SNP ZFAND1 ENST00000220669 human ensembl 74_37 -1 known silent c.588 p.A196 0.422 NULL pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 30 0 0 16 7 30.4348 SNX16 0 genome.wustl.edu 37 8 82752105 82752105 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 82752105 82752105 A C SNP SNX16 ENST00000345957 human ensembl 74_37 -1 known silent c.117 p.S39 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX16 HGNC ENSG00000104497 169 0 0 100 48 32.4324 LRRCC1 0 genome.wustl.edu 37 8 86037034 86037034 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 86037034 86037034 C T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.1132 p.R378C 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 88 0 0 76 28 26.9231 WWP1 0 genome.wustl.edu 37 8 87393047 87393047 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 87393047 87393047 A C SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.163 p.K55Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 56 0 0 40 22 35.4839 WWP1 0 genome.wustl.edu 37 8 87410844 87410844 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 87410844 87410844 G A SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known silent c.516 p.E172 0.920 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 96 0 0 70 31 30.6931 WWP1 0 genome.wustl.edu 37 8 87424021 87424021 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 87424021 87424021 G A SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.979 p.A327T 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 70 0 0 65 21 24.4186 CNGB3 0 genome.wustl.edu 37 8 87641195 87641195 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 87641195 87641195 G A SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known nonsense c.1432 p.R478* 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 278 0 0 132 66 33.3333 CNGB3 0 genome.wustl.edu 37 8 87656903 87656903 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 87656903 87656903 A C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1002 p.F334L 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 45 0 0 48 15 23.8095 CNGB3 0 genome.wustl.edu 37 8 87679359 87679359 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 87679359 87679359 G A SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known nonsense c.646 p.R216* 0.986 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 44 0 0 33 11 25 PPP1R3B 0 genome.wustl.edu 37 8 8998978 8998978 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 8998978 8998978 G A SNP PPP1R3B ENST00000310455 human ensembl 74_37 -1 known missense c.184 p.R62W 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 135 1 0.735294 40 40 50 OSGIN2 0 genome.wustl.edu 37 8 90937584 90937584 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 90937584 90937584 A G SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1474 p.T492A 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 191 0 0 101 61 37.6543 CALB1 0 genome.wustl.edu 37 8 91072475 91072475 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 91072475 91072475 T C SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known missense c.712 p.I238V 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 177 0 0 121 73 37.6289 KIAA1429 0 genome.wustl.edu 37 8 95523529 95523529 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 95523529 95523529 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.3274 p.S1092P 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 53 0 0 23 17 42.5 TNKS 0 genome.wustl.edu 37 8 9562212 9562212 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 9562212 9562212 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known nonsense c.1147 p.R383* 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 111 0 0 38 21 35.5932 DPY19L4 0 genome.wustl.edu 37 8 95800258 95800258 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 95800258 95800258 T G SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known nonsense c.1985 p.L662* 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 101 0 0 80 30 27.2727 GDF6 0 genome.wustl.edu 37 8 97172790 97172790 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 97172790 97172790 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.131 p.R44Q 0.999 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 123 0 0 78 37 32.1739 PTDSS1 0 genome.wustl.edu 37 8 97299345 97299345 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 97299345 97299345 C T SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known nonsense c.412 p.R138* 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 261 0 0 127 72 36.1809 PTDSS1 0 genome.wustl.edu 37 8 97345750 97345750 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 97345750 97345750 C T SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known missense c.1378 p.R460W 1.000 NULL pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 207 0 0 118 49 29.3413 POP1 0 genome.wustl.edu 37 8 99139972 99139972 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 99139972 99139972 A C SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.292 p.I98L 0.998 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 122 0 0 53 30 36.1446 NIPAL2 0 genome.wustl.edu 37 8 99248398 99248398 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 99248398 99248398 C T SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known missense c.421 p.A141T 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 54 0 0 50 17 25.3731 CCDC180 0 genome.wustl.edu 37 9 100056271 100056271 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100056271 100056271 C T SNP CCDC180 ENST00000357054 human ensembl 74_37 +1 known silent c.129 p.N43 0.281 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 198 0 0 101 59 36.875 TDRD7 0 genome.wustl.edu 37 9 100257990 100257990 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100257990 100257990 G A SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.3122 p.R1041Q 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 224 0 0 124 45 26.6272 TSTD2 0 genome.wustl.edu 37 9 100380144 100380144 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100380144 100380144 T G SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known missense c.498 p.E166D 0.031 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 81 0 0 45 26 36.6197 XPA 0 genome.wustl.edu 37 9 100444706 100444706 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100444706 100444706 A G SNP XPA ENST00000462523 human ensembl 74_37 -1 known missense c.680 p.V227A 0.000 tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 147 0 0 121 37 23.4177 XPA 0 genome.wustl.edu 37 9 100449522 100449522 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100449522 100449522 C T SNP XPA ENST00000375128 human ensembl 74_37 -1 known silent c.411 p.K137 1.000 pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 42 0 0 45 18 28.5714 HEMGN 0 genome.wustl.edu 37 9 100692644 100692644 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100692644 100692644 C A SNP HEMGN ENST00000259456 human ensembl 74_37 -1 known nonsense c.1033 p.E345* 1.000 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 233 0 0 137 77 35.9813 HEMGN 0 genome.wustl.edu 37 9 100692828 100692828 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100692828 100692828 T G SNP HEMGN ENST00000259456 human ensembl 74_37 -1 known missense c.849 p.E283D 0.003 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 214 0 0 165 33 16.6667 NANS 0 genome.wustl.edu 37 9 100845151 100845151 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 100845151 100845151 A C SNP NANS ENST00000210444 human ensembl 74_37 +1 known missense c.894 p.K298N 0.996 pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 58 0 0 23 11 32.3529 GABBR2 0 genome.wustl.edu 37 9 101304324 101304324 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 101304324 101304324 A C SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.461 p.L154R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 56 0 0 25 18 41.8605 COL15A1 0 genome.wustl.edu 37 9 101767207 101767207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 101767207 101767207 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.1228 p.A410T 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 195 1 0.510204 77 49 38.8889 COL15A1 0 genome.wustl.edu 37 9 101801001 101801001 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 101801001 101801001 C T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.2461 p.L821 0.996 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 193 0 0 108 38 26.0274 INVS 0 genome.wustl.edu 37 9 102988353 102988353 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 102988353 102988353 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.283 p.R95C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 21 0 0 17 11 39.2857 ZNF189 0 genome.wustl.edu 37 9 104170264 104170264 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 104170264 104170264 G T SNP ZNF189 ENST00000339664 human ensembl 74_37 +1 known nonsense c.214 p.E72* 1.000 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 ZNF189 HGNC ENSG00000136870 46 0 0 23 13 36.1111 RNF20 0 genome.wustl.edu 37 9 104317003 104317003 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 104317003 104317003 G A SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.2047 p.D683N 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 50 0 0 29 17 36.9565 DMRT2 0 genome.wustl.edu 37 9 1053757 1053757 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 1053757 1053757 C T SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known silent c.561 p.F187 0.491 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 105 0 0 60 32 34.7826 CYLC2 0 genome.wustl.edu 37 9 105767051 105767051 + Silent SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 105767051 105767051 T A SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known silent c.255 p.S85 0.111 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 57 0 0 33 30 47.619 CYLC2 0 genome.wustl.edu 37 9 105767610 105767610 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 105767610 105767610 G T SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known nonsense c.697 p.E233* 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 71 0 0 49 17 25.7576 OR13C4 0 genome.wustl.edu 37 9 107288807 107288807 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 107288807 107288807 C T SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known silent c.684 p.T228 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 172 0 0 104 40 27.7778 OR13C5 0 genome.wustl.edu 37 9 107361671 107361671 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 107361671 107361671 A G SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known silent c.24 p.I8 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 104 0 0 92 37 28.6822 ABCA1 0 genome.wustl.edu 37 9 107582240 107582240 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 107582240 107582240 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.3071 p.S1024N 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 155 0 0 79 40 33.6134 TMEM38B 0 genome.wustl.edu 37 9 108536166 108536166 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 108536166 108536166 G T SNP TMEM38B ENST00000374692 human ensembl 74_37 +1 known missense c.681 p.Q227H 0.066 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 146 0 0 85 28 24.7788 ZNF462 0 genome.wustl.edu 37 9 109691051 109691051 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 109691051 109691051 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4858 p.E1620K 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 156 0 0 94 40 29.8507 ENSG00000226047 0 genome.wustl.edu 37 9 109879758 109879758 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 109879758 109879758 T G SNP ENSG00000226047 ENST00000427833 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-196I18.4 Clone_based_vega_gene ENSG00000226047 229 0 0 134 66 33 ACTL7A 0 genome.wustl.edu 37 9 111624759 111624759 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 111624759 111624759 G T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known nonsense c.157 p.E53* 0.032 NULL pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 94 0 0 51 25 32.8947 IKBKAP 0 genome.wustl.edu 37 9 111689701 111689701 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 111689701 111689701 G T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known silent c.336 p.I112 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 130 0 0 65 39 37.5 CTNNAL1 0 genome.wustl.edu 37 9 111761501 111761501 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 111761501 111761501 T G SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.177 p.K59N 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 171 0 0 124 66 34.7368 EPB41L4B 0 genome.wustl.edu 37 9 112018421 112018421 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 112018421 112018421 G T SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.924 p.F308L 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 123 0 0 79 34 30.0885 SVEP1 0 genome.wustl.edu 37 9 113170530 113170530 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 113170530 113170530 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.7350 p.I2450 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 55 0 0 34 8 19.0476 SVEP1 0 genome.wustl.edu 37 9 113198718 113198718 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 113198718 113198718 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4706 p.S1569Y 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 89 0 0 54 20 27.027 SVEP1 0 genome.wustl.edu 37 9 113208196 113208196 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 113208196 113208196 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4384 p.D1462N 0.067 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 131 0 0 67 41 37.963 SVEP1 0 genome.wustl.edu 37 9 113221386 113221386 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 113221386 113221386 A G SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.3330 p.C1110 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 140 0 0 90 40 30.7692 LPAR1 0 genome.wustl.edu 37 9 113704061 113704061 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 113704061 113704061 C T SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.436 p.E146K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 170 0 0 93 55 37.1622 ZNF483 0 genome.wustl.edu 37 9 114304143 114304143 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 114304143 114304143 A G SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known missense c.928 p.N310D 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 187 0 0 162 92 36.2205 DNAJC25 0 genome.wustl.edu 37 9 114412194 114412194 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 114412194 114412194 G T SNP DNAJC25 ENST00000313525 human ensembl 74_37 +1 known missense c.951 p.E317D 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC25 HGNC ENSG00000059769 36 0 0 26 17 39.5349 C9orf84 0 genome.wustl.edu 37 9 114462248 114462248 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 114462248 114462248 C A SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known nonsense c.2977 p.E993* 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 111 0 0 79 42 34.7107 UGCG 0 genome.wustl.edu 37 9 114687128 114687128 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 114687128 114687128 C A SNP UGCG ENST00000374279 human ensembl 74_37 +1 known missense c.415 p.L139I 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 46 0 0 48 25 34.2466 UGCG 0 genome.wustl.edu 37 9 114688676 114688676 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 114688676 114688676 C T SNP UGCG ENST00000374279 human ensembl 74_37 +1 known missense c.458 p.T153M 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 101 0 0 88 37 29.6 KIAA1958 0 genome.wustl.edu 37 9 115421687 115421687 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 115421687 115421687 T C SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1573 p.S525P 0.996 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 59 0 0 30 16 34.7826 KIAA1958 0 genome.wustl.edu 37 9 115421766 115421766 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 115421766 115421766 C T SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1652 p.S551L 0.996 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 39 0 0 21 6 22.2222 INIP 0 genome.wustl.edu 37 9 115449805 115449805 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 115449805 115449805 G A SNP INIP ENST00000374234 human ensembl 74_37 -1 known silent c.147 p.C49 0.035 NULL NULL - no_errors INIP HGNC ENSG00000148153 91 0 0 57 32 35.9551 ZNF883 0 genome.wustl.edu 37 9 115759713 115759713 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 115759713 115759713 C T SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF883 HGNC ENSG00000228623 151 0 0 125 57 31.3187 ZFP37 0 genome.wustl.edu 37 9 115805311 115805311 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 115805311 115805311 A C SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.1632 p.I544M 0.048 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 ZFP37 HGNC ENSG00000136866 62 0 0 47 36 43.3735 FKBP15 0 genome.wustl.edu 37 9 115946040 115946040 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 115946040 115946040 C T SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known missense c.1802 p.R601Q 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 77 0 0 68 29 29.8969 PRPF4 0 genome.wustl.edu 37 9 116041260 116041260 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116041260 116041260 C T SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known nonsense c.244 p.R82* 0.986 NULL pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 136 0 0 69 44 38.9381 WDR31 0 genome.wustl.edu 37 9 116080896 116080896 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116080896 116080896 G A SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known nonsense c.802 p.R268* 0.185 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR31 HGNC ENSG00000148225 105 0 0 69 31 31 WDR31 0 genome.wustl.edu 37 9 116094237 116094237 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116094237 116094237 G A SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known silent c.66 p.V22 0.000 NULL 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 WDR31 HGNC ENSG00000148225 90 0 0 60 25 29.4118 RGS3 0 genome.wustl.edu 37 9 116269874 116269874 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116269874 116269874 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1393 p.D465N 1.000 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 14 0 0 5 3 37.5 RGS3 0 genome.wustl.edu 37 9 116303692 116303692 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116303692 116303692 G A SNP RGS3 ENST00000317613 human ensembl 74_37 +1 known silent c.1794 p.Q598 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,pfscan_C2_dom,pfscan_PDZ - no_errors RGS3 HGNC ENSG00000138835 358 0 0 211 103 32.8025 ZNF618 0 genome.wustl.edu 37 9 116812263 116812263 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116812263 116812263 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.2681 p.S894L 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 115 0 0 54 31 36.4706 COL27A1 0 genome.wustl.edu 37 9 116930507 116930507 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 116930507 116930507 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known silent c.672 p.V224 0.999 superfamily_ConA-like_lec_gl_sf pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 134 0 0 57 32 35.9551 ORM2 0 genome.wustl.edu 37 9 117092235 117092235 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 117092235 117092235 A C SNP ORM2 ENST00000431067 human ensembl 74_37 +1 known missense c.51 p.E17D 0.000 pfam_ApoM,pirsf_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM2 HGNC ENSG00000228278 28 0 0 17 11 39.2857 ORM2 0 genome.wustl.edu 37 9 117092416 117092416 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 117092416 117092416 C A SNP ORM2 ENST00000412657 human ensembl 74_37 +1 known missense c.232 p.L78M 0.000 NULL NULL - no_errors ORM2 HGNC ENSG00000228278 22 0 0 10 6 37.5 DFNB31 0 genome.wustl.edu 37 9 117266526 117266526 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 117266526 117266526 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.556 p.D186N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 181 0 0 83 38 31.405 TNFSF8 0 genome.wustl.edu 37 9 117666356 117666356 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 117666356 117666356 T C SNP TNFSF8 ENST00000223795 human ensembl 74_37 -1 known missense c.560 p.Y187C 0.998 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom - no_errors TNFSF8 HGNC ENSG00000106952 212 1 0.469484 102 54 34.6154 TNC 0 genome.wustl.edu 37 9 117825464 117825464 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 117825464 117825464 C A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3765 p.E1255D 0.997 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 74 0 0 37 16 30.1887 TNC 0 genome.wustl.edu 37 9 117840406 117840406 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 117840406 117840406 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.2490 p.I830 0.297 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 84 0 0 49 28 36.3636 PAPPA 0 genome.wustl.edu 37 9 118974146 118974146 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 118974146 118974146 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1853 p.G618V 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 452 0 0 235 112 32.2767 PAPPA 0 genome.wustl.edu 37 9 118997781 118997781 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 118997781 118997781 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.2597 p.A866V 1.000 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 66 0 0 33 30 47.619 PAPPA 0 genome.wustl.edu 37 9 118997789 118997789 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 118997789 118997789 T C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.2605 p.L869 0.950 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 73 0 0 38 30 44.1176 ASTN2 0 genome.wustl.edu 37 9 119188144 119188144 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 119188144 119188144 A G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.4006 p.S1336P 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 96 0 0 55 25 31.25 ASTN2 0 genome.wustl.edu 37 9 119625945 119625945 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 119625945 119625945 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1957 p.R653C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 83 0 0 48 23 32.3944 CDK5RAP2 0 genome.wustl.edu 37 9 123215733 123215733 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 123215733 123215733 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known splice_site c.2793+1 e21+1 0.998 - - - no_errors CDK5RAP2 HGNC ENSG00000136861 116 0 0 54 31 36.4706 C5 0 genome.wustl.edu 37 9 123725007 123725007 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 123725007 123725007 G T SNP C5 ENST00000223642 human ensembl 74_37 -1 known silent c.4446 p.L1482 0.978 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 136 0 0 125 50 28.5714 C5 0 genome.wustl.edu 37 9 123742403 123742403 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 123742403 123742403 G A SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.3616 p.R1206C 0.009 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 84 0 0 72 24 25 CNTRL 0 genome.wustl.edu 37 9 123912533 123912533 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 123912533 123912533 G T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.3735 p.M1245I 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 106 0 0 73 36 33.0275 CNTRL 0 genome.wustl.edu 37 9 123927254 123927254 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 123927254 123927254 G T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.5457 p.M1819I 0.724 superfamily_tRNA-bd_arm pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 61 0 0 44 26 37.1429 CNTRL 0 genome.wustl.edu 37 9 123928390 123928390 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 123928390 123928390 C T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known nonsense c.5587 p.R1863* 0.983 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 48 0 0 21 12 36.3636 NDUFA8 0 genome.wustl.edu 37 9 124914534 124914534 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 124914534 124914534 C T SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known missense c.205 p.D69N 1.000 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 67 0 0 42 20 32.2581 MORN5 0 genome.wustl.edu 37 9 124936902 124936902 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 124936902 124936902 C T SNP MORN5 ENST00000536616 human ensembl 74_37 +1 known silent c.435 p.N145 0.972 NULL pfam_MORN,smart_MORN - no_errors MORN5 HGNC ENSG00000185681 140 0 0 61 29 32.2222 LHX6 0 genome.wustl.edu 37 9 124976602 124976602 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 124976602 124976602 G A SNP LHX6 ENST00000394319 human ensembl 74_37 -1 known missense c.743 p.A248V 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX6 HGNC ENSG00000106852 39 0 0 20 7 25.9259 RBM18 0 genome.wustl.edu 37 9 125009820 125009820 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125009820 125009820 G A SNP RBM18 ENST00000417201 human ensembl 74_37 -1 known nonsense c.304 p.R102* 0.995 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM18 HGNC ENSG00000119446 84 0 0 61 21 25.6098 OR1J2 0 genome.wustl.edu 37 9 125273593 125273593 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125273593 125273593 G A SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known silent c.513 p.A171 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 OR1J2 HGNC ENSG00000197233 187 0 0 84 47 35.8779 OR1N1 0 genome.wustl.edu 37 9 125288673 125288673 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125288673 125288673 C A SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.900 p.K300N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 58 0 0 42 18 30 OR1L3 0 genome.wustl.edu 37 9 125437916 125437916 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125437916 125437916 A G SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known missense c.508 p.T170A 0.991 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 OR1L3 HGNC ENSG00000171481 385 0 0 229 116 33.6232 OR1L4 0 genome.wustl.edu 37 9 125486541 125486541 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125486541 125486541 G T SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.273 p.K91N 0.048 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 OR1L4 HGNC ENSG00000136939 162 0 0 134 13 8.84354 OR1K1 0 genome.wustl.edu 37 9 125562444 125562444 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125562444 125562444 T G SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known missense c.43 p.L15V 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 55 0 0 33 16 32.6531 RC3H2 0 genome.wustl.edu 37 9 125616211 125616211 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125616211 125616211 G A SNP RC3H2 ENST00000423239 human ensembl 74_37 -1 known missense c.3137 p.S1046L 0.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 99 0 0 63 33 34.375 ZBTB6 0 genome.wustl.edu 37 9 125674239 125674239 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125674239 125674239 T C SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known missense c.113 p.Y38C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 177 0 0 104 52 33.3333 ZBTB26 0 genome.wustl.edu 37 9 125682174 125682174 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125682174 125682174 T G SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known missense c.40 p.N14H 1.000 superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 33 0 0 24 13 35.1351 RABGAP1 0 genome.wustl.edu 37 9 125758389 125758389 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125758389 125758389 C A SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known silent c.993 p.I331 1.000 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 94 0 0 80 32 28.5714 RABGAP1 0 genome.wustl.edu 37 9 125861055 125861055 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125861055 125861055 C A SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.2795 p.S932Y 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 74 0 0 42 24 36.3636 STRBP 0 genome.wustl.edu 37 9 125935984 125935984 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 125935984 125935984 A G SNP STRBP ENST00000348403 human ensembl 74_37 -1 known missense c.362 p.V121A 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STRBP HGNC ENSG00000165209 127 0 0 89 50 35.9712 LHX2 0 genome.wustl.edu 37 9 126777465 126777465 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 126777465 126777465 C T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.388 p.R130C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 255 1 0.390625 138 56 28.866 TYRP1 0 genome.wustl.edu 37 9 12694255 12694255 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 12694255 12694255 C T SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.259 p.R87W 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 49 0 0 21 12 36.3636 NR6A1 0 genome.wustl.edu 37 9 127289152 127289152 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 127289152 127289152 G A SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known silent c.1107 p.I369 0.917 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 - no_errors NR6A1 HGNC ENSG00000148200 142 0 0 67 45 40.1786 GOLGA1 0 genome.wustl.edu 37 9 127684102 127684102 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 127684102 127684102 G A SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known missense c.631 p.R211C 0.188 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 185 0 0 139 74 34.7418 GAPVD1 0 genome.wustl.edu 37 9 128086089 128086089 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 128086089 128086089 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.1745 p.R582H 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 107 0 0 52 35 40.2299 LURAP1L 0 genome.wustl.edu 37 9 12821683 12821683 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 12821683 12821683 A G SNP LURAP1L ENST00000319264 human ensembl 74_37 +1 known missense c.611 p.D204G 1.000 NULL NULL - no_errors LURAP1L HGNC ENSG00000153714 212 0 0 146 76 34.2342 ZBTB34 0 genome.wustl.edu 37 9 129641682 129641682 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 129641682 129641682 T C SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known missense c.4 p.S2P 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 172 0 0 67 49 42.2414 ANGPTL2 0 genome.wustl.edu 37 9 129870556 129870556 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 129870556 129870556 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.455 p.A152V 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 69 0 0 34 18 34.6154 RALGPS1 0 genome.wustl.edu 37 9 129974967 129974967 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 129974967 129974967 C T SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known missense c.1415 p.A472V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 58 0 0 22 12 35.2941 SH2D3C 0 genome.wustl.edu 37 9 130536742 130536742 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 130536742 130536742 G A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known silent c.42 p.F14 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 72 0 0 23 16 41.0256 FPGS 0 genome.wustl.edu 37 9 130569902 130569902 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 130569902 130569902 G A SNP FPGS ENST00000373247 human ensembl 74_37 +1 known missense c.679 p.D227N 1.000 superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 68 0 0 21 13 38.2353 ST6GALNAC4 0 genome.wustl.edu 37 9 130670662 130670662 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 130670662 130670662 C T SNP ST6GALNAC4 ENST00000467674 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ST6GALNAC4 HGNC ENSG00000136840 100 0 0 45 23 33.8235 SLC25A25 0 genome.wustl.edu 37 9 130860921 130860921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 130860921 130860921 C T SNP SLC25A25 ENST00000373064 human ensembl 74_37 +1 known missense c.76 p.L26F 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 167 0 0 97 42 30.2158 SLC27A4 0 genome.wustl.edu 37 9 131107806 131107806 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131107806 131107806 C A SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known silent c.534 p.V178 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 22 0 0 15 5 25 URM1 0 genome.wustl.edu 37 9 131151722 131151722 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131151722 131151722 T G SNP URM1 ENST00000452446 human ensembl 74_37 +1 known missense c.371 p.L124R 0.000 NULL pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC ENSG00000167118 22 0 0 10 9 47.3684 SPTAN1 0 genome.wustl.edu 37 9 131374247 131374247 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131374247 131374247 A C SNP SPTAN1 ENST00000476825 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTAN1 HGNC ENSG00000197694 88 0 0 61 30 32.967 ZER1 0 genome.wustl.edu 37 9 131503881 131503881 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131503881 131503881 T G SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.1670 p.E557A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 197 0 0 84 44 34.375 TBC1D13 0 genome.wustl.edu 37 9 131565546 131565546 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131565546 131565546 G T SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known missense c.561 p.K187N 0.953 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 92 0 0 51 13 20.3125 MPDZ 0 genome.wustl.edu 37 9 13168391 13168391 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 13168391 13168391 T G SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.3228 p.R1076S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 301 0 0 197 74 27.3063 PHYHD1 0 genome.wustl.edu 37 9 131703788 131703788 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131703788 131703788 G A SNP PHYHD1 ENST00000308941 human ensembl 74_37 +1 known missense c.746 p.R249H 0.002 NULL pfam_Phytyl_CoA_dOase - no_errors PHYHD1 HGNC ENSG00000175287 194 0 0 62 36 36.7347 DOLK 0 genome.wustl.edu 37 9 131708138 131708138 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131708138 131708138 G A SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.1445 p.A482V 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 164 0 0 94 57 37.7483 DOLK 0 genome.wustl.edu 37 9 131708450 131708450 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131708450 131708450 T C SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.1133 p.Y378C 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 237 1 0.420168 103 55 34.8101 NUP188 0 genome.wustl.edu 37 9 131730975 131730975 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131730975 131730975 A G SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.776 p.D259G 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 161 0 0 85 53 38.4058 NUP188 0 genome.wustl.edu 37 9 131747191 131747191 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131747191 131747191 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.1974 p.M658I 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 107 0 0 47 39 45.3488 NUP188 0 genome.wustl.edu 37 9 131761490 131761490 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 131761490 131761490 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.3555 p.T1185 0.893 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 141 0 0 87 26 23.0088 TOR1A 0 genome.wustl.edu 37 9 132584974 132584974 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 132584974 132584974 G A SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known silent c.330 p.F110 0.770 pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 272 0 0 114 73 39.0374 USP20 0 genome.wustl.edu 37 9 132618599 132618599 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 132618599 132618599 C T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.95 p.S32L 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 251 0 0 131 58 30.6878 FNBP1 0 genome.wustl.edu 37 9 132658222 132658222 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 132658222 132658222 C T SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.1741 p.E581K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 78 0 0 41 16 28.0702 FNBP1 0 genome.wustl.edu 37 9 132665242 132665242 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 132665242 132665242 T C SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.1334 p.N445S 1.000 superfamily_HR1_rho-bd pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 19 0 0 5 6 54.5455 GPR107 0 genome.wustl.edu 37 9 132866788 132866788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 132866788 132866788 C T SNP GPR107 ENST00000372410 human ensembl 74_37 +1 known silent c.1221 p.V407 0.665 pfam_TM_rcpt_euk pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt - no_errors GPR107 HGNC ENSG00000148358 50 0 0 33 10 23.2558 ABL1 0 genome.wustl.edu 37 9 133738166 133738166 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 133738166 133738166 A G SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.623 p.E208G 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 81 0 0 47 19 28.7879 LAMC3 0 genome.wustl.edu 37 9 133920995 133920995 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 133920995 133920995 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1467 p.C489 0.183 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 109 0 0 42 19 31.1475 ENSG00000246851 0 genome.wustl.edu 37 9 134067535 134067535 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 134067535 134067535 T G SNP ENSG00000246851 ENST00000502188 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors RP11-544A12.8 Clone_based_vega_gene ENSG00000246851 16 0 0 10 9 47.3684 POMT1 0 genome.wustl.edu 37 9 134381847 134381847 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 134381847 134381847 G T SNP POMT1 ENST00000483472 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC ENSG00000130714 193 0 0 126 48 27.5862 UCK1 0 genome.wustl.edu 37 9 134401365 134401365 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 134401365 134401365 C T SNP UCK1 ENST00000372211 human ensembl 74_37 -1 known splice_site c.619-1 e6-1 1.000 - - - no_errors UCK1 HGNC ENSG00000130717 172 0 0 95 48 33.5664 RAPGEF1 0 genome.wustl.edu 37 9 134497187 134497187 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 134497187 134497187 T G SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.1904 p.Q635P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 19 0 0 4 6 60 NTNG2 0 genome.wustl.edu 37 9 135073374 135073374 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 135073374 135073374 A G SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.235 p.N79D 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 73 0 0 40 11 21.5686 SETX 0 genome.wustl.edu 37 9 135150684 135150684 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 135150684 135150684 C T SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.7059 p.T2353 0.754 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 193 0 0 122 51 29.4798 SETX 0 genome.wustl.edu 37 9 135204697 135204697 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 135204697 135204697 T G SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.2288 p.E763A 0.005 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 140 0 0 98 62 38.75 SETX 0 genome.wustl.edu 37 9 135221766 135221766 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 135221766 135221766 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.270 p.V90 0.567 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 62 0 0 37 24 39.3443 TTF1 0 genome.wustl.edu 37 9 135251430 135251430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 135251430 135251430 C T SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.2590 p.D864N 0.976 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 72 0 0 51 20 28.169 TSC1 0 genome.wustl.edu 37 9 135798984 135798984 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 135798984 135798984 C A SNP TSC1 ENST00000461879 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TSC1 HGNC ENSG00000165699 34 0 0 25 4 13.7931 CACFD1 0 genome.wustl.edu 37 9 136330477 136330477 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 136330477 136330477 G A SNP CACFD1 ENST00000540581 human ensembl 74_37 +1 known silent c.228 p.A76 0.382 pfam_TVP18/Ca-channel_flower pfam_TVP18/Ca-channel_flower - no_errors CACFD1 HGNC ENSG00000160325 203 0 0 80 40 33.3333 ADAMTSL2 0 genome.wustl.edu 37 9 136412278 136412278 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 136412278 136412278 G T SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.1209 p.E403D 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 441 0 0 228 103 31.1178 DBH 0 genome.wustl.edu 37 9 136508639 136508639 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 136508639 136508639 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.849 p.C283 0.853 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase 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 125 0 0 64 23 26.4368 DBH 0 genome.wustl.edu 37 9 136509381 136509381 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 136509381 136509381 T C SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.963 p.G321 0.011 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom 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 131 0 0 90 13 12.6214 DBH-AS1 0 genome.wustl.edu 37 9 136522377 136522377 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 136522377 136522377 G A SNP DBH-AS1 ENST00000425189 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DBH-AS1 HGNC ENSG00000225756 70 0 0 34 16 32 BRD3 0 genome.wustl.edu 37 9 136913345 136913345 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 136913345 136913345 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.946 p.D316N 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 49 0 0 13 12 48 COL5A1 0 genome.wustl.edu 37 9 137630640 137630640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 137630640 137630640 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1480 p.D494N 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 127 0 0 76 9 10.5882 LCN9 0 genome.wustl.edu 37 9 138556136 138556136 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 138556136 138556136 C T SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known silent c.225 p.F75 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 134 0 0 74 38 33.9286 CAMSAP1 0 genome.wustl.edu 37 9 138706958 138706958 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 138706958 138706958 C A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.4524 p.K1508N 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 34 0 0 17 8 32 SDCCAG3 0 genome.wustl.edu 37 9 139298607 139298607 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 139298607 139298607 G A SNP SDCCAG3 ENST00000357365 human ensembl 74_37 -1 known missense c.1108 p.R370W 0.983 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 321 0 0 145 65 30.9524 SEC16A 0 genome.wustl.edu 37 9 139371654 139371654 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 139371654 139371654 C A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.414 p.M138I 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 211 0 0 89 54 37.7622 NOTCH1 0 genome.wustl.edu 37 9 139391777 139391777 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 139391777 139391777 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.6414 p.P2138 0.958 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 85 0 0 34 14 29.1667 FAM69B 0 genome.wustl.edu 37 9 139617800 139617800 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 139617800 139617800 C T SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known silent c.870 p.Y290 0.964 pfam_FAM69_kinase_dom pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 103 0 0 59 31 34.4444 LCN10 0 genome.wustl.edu 37 9 139637344 139637344 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 139637344 139637344 C T SNP LCN10 ENST00000497771 human ensembl 74_37 -1 known silent c.12 p.G4 0.031 NULL superfamily_Calycin-like - no_errors LCN10 HGNC ENSG00000187922 50 0 0 31 20 39.2157 LCN15 0 genome.wustl.edu 37 9 139658209 139658209 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 139658209 139658209 G A SNP LCN15 ENST00000316144 human ensembl 74_37 -1 known missense c.263 p.A88V 0.016 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin - no_errors LCN15 HGNC ENSG00000177984 125 0 0 39 22 36.0656 NDOR1 0 genome.wustl.edu 37 9 140108241 140108241 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140108241 140108241 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known silent c.321 p.F107 0.997 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 46 0 0 17 7 29.1667 FAM166A 0 genome.wustl.edu 37 9 140140191 140140191 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140140191 140140191 G A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known silent c.171 p.S57 0.805 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 123 0 0 38 23 37.7049 EHMT1 0 genome.wustl.edu 37 9 140646849 140646849 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140646849 140646849 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.1237 p.E413K 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 45 0 0 24 10 29.4118 EHMT1 0 genome.wustl.edu 37 9 140671280 140671280 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140671280 140671280 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2002 p.D668N 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 67 0 0 29 18 38.2979 EHMT1 0 genome.wustl.edu 37 9 140674138 140674138 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140674138 140674138 A G SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.2244 p.Q748 0.997 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 66 0 0 57 4 6.55738 CACNA1B 0 genome.wustl.edu 37 9 140777318 140777318 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140777318 140777318 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.513 p.F171 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 416 0 0 239 51 17.5862 CACNA1B 0 genome.wustl.edu 37 9 140954118 140954118 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 140954118 140954118 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.4600 p.D1534N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 157 0 0 77 25 24.5098 CACNA1B 0 genome.wustl.edu 37 9 141016245 141016245 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 141016245 141016245 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6817 p.A2273T 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 98 0 0 35 24 40.678 ZDHHC21 0 genome.wustl.edu 37 9 14619044 14619044 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 14619044 14619044 G A SNP ZDHHC21 ENST00000380916 human ensembl 74_37 -1 known missense c.718 p.R240C 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC21 HGNC ENSG00000175893 83 0 0 40 26 39.3939 FREM1 0 genome.wustl.edu 37 9 14737488 14737488 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 14737488 14737488 T G SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.6449 p.K2150T 0.992 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 39 0 0 14 14 50 FREM1 0 genome.wustl.edu 37 9 14748531 14748531 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 14748531 14748531 A G SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.5667 p.G1889 0.409 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 325 0 0 182 58 24.1667 FREM1 0 genome.wustl.edu 37 9 14851533 14851533 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 14851533 14851533 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.904 p.A302T 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 174 0 0 102 41 28.6713 TTC39B 0 genome.wustl.edu 37 9 15192692 15192692 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 15192692 15192692 C A SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known nonsense c.826 p.E276* 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 109 0 0 52 28 35 CCDC171 0 genome.wustl.edu 37 9 15571628 15571628 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 15571628 15571628 G T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.48 p.K16N 0.998 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 52 0 0 59 26 30.5882 CCDC171 0 genome.wustl.edu 37 9 15678796 15678796 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 15678796 15678796 G T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known nonsense c.1117 p.E373* 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 51 0 0 37 23 38.3333 CCDC171 0 genome.wustl.edu 37 9 15678883 15678883 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 15678883 15678883 G A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.1204 p.E402K 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 34 0 0 38 20 34.4828 CCDC171 0 genome.wustl.edu 37 9 15874610 15874610 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 15874610 15874610 G T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3549 p.E1183D 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 172 0 0 83 46 35.6589 CNTLN 0 genome.wustl.edu 37 9 17462966 17462966 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 17462966 17462966 T G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.3359 p.F1120C 0.829 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 67 0 0 54 31 36.4706 SH3GL2 0 genome.wustl.edu 37 9 17786463 17786463 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 17786463 17786463 C T SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known missense c.272 p.A91V 0.984 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 130 0 0 53 41 43.617 HAUS6 0 genome.wustl.edu 37 9 19058433 19058433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 19058433 19058433 C T SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.2332 p.E778K 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 65 0 0 34 24 41.3793 PLIN2 0 genome.wustl.edu 37 9 19116286 19116286 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 19116286 19116286 C T SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known missense c.1274 p.S425N 0.903 pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 150 0 0 71 35 33.0189 DENND4C 0 genome.wustl.edu 37 9 19331982 19331982 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 19331982 19331982 A C SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.2260 p.K754Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 56 0 0 43 15 25.8621 DENND4C 0 genome.wustl.edu 37 9 19371815 19371815 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 19371815 19371815 A T SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.5590 p.I1864F 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 63 0 0 53 32 37.6471 FOCAD 0 genome.wustl.edu 37 9 20720434 20720434 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 20720434 20720434 G A SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.188 p.R63Q 0.988 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 251 0 0 127 53 29.4444 FOCAD 0 genome.wustl.edu 37 9 20758164 20758164 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 20758164 20758164 A C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.468 p.T156 0.071 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 61 0 0 21 15 41.6667 FOCAD 0 genome.wustl.edu 37 9 20770060 20770060 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 20770060 20770060 G A SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.729 p.A243 0.792 pfam_DUF3730 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 120 0 0 84 56 40 FOCAD 0 genome.wustl.edu 37 9 20907233 20907233 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 20907233 20907233 A C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.2710 p.I904L 0.370 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 177 0 0 154 9 5.52147 IFNA10 0 genome.wustl.edu 37 9 21206631 21206631 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 21206631 21206631 C A SNP IFNA10 ENST00000357374 human ensembl 74_37 -1 known nonsense c.466 p.E156* 0.435 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 516 0 0 331 163 32.996 IFNA16 0 genome.wustl.edu 37 9 21217072 21217072 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 21217072 21217072 G T SNP IFNA16 ENST00000380216 human ensembl 74_37 -1 known missense c.233 p.S78Y 0.014 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 255 0 0 146 71 32.7189 KLHL9 0 genome.wustl.edu 37 9 21333694 21333694 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 21333694 21333694 G A SNP KLHL9 ENST00000359039 human ensembl 74_37 -1 known missense c.1165 p.R389C 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL9 HGNC ENSG00000198642 122 0 0 51 27 34.6154 KLHL9 0 genome.wustl.edu 37 9 21334480 21334480 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 21334480 21334480 C T SNP KLHL9 ENST00000359039 human ensembl 74_37 -1 known missense c.379 p.E127K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL9 HGNC ENSG00000198642 124 0 0 98 41 29.4964 IFNA13 0 genome.wustl.edu 37 9 21367840 21367840 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 21367840 21367840 C A SNP IFNA13 ENST00000449498 human ensembl 74_37 -1 known missense c.170 p.R57I 0.005 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA13 HGNC ENSG00000233816 52 0 0 40 17 29.8246 IFNA2 0 genome.wustl.edu 37 9 21385197 21385197 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 21385197 21385197 C A SNP IFNA2 ENST00000380206 human ensembl 74_37 -1 known missense c.132 p.M44I 0.369 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA2 HGNC ENSG00000188379 227 0 0 138 50 26.5957 C9orf66 0 genome.wustl.edu 37 9 214896 214896 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 214896 214896 T G SNP C9orf66 ENST00000382387 human ensembl 74_37 -1 known missense c.501 p.E167D 0.001 NULL NULL - no_errors C9orf66 HGNC ENSG00000183784 29 0 0 14 6 30 SMARCA2 0 genome.wustl.edu 37 9 2161877 2161877 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 2161877 2161877 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.4173 p.I1391 0.865 superfamily_Bromodomain,smart_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 46 0 0 34 19 35.8491 IFT74 0 genome.wustl.edu 37 9 27048155 27048155 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 27048155 27048155 C T SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known missense c.1216 p.R406C 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 66 0 0 44 23 34.3284 TEK 0 genome.wustl.edu 37 9 27202837 27202837 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 27202837 27202837 A C SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.1929 p.E643D 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 125 0 0 73 39 34.8214 LINGO2 0 genome.wustl.edu 37 9 27949023 27949023 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 27949023 27949023 G T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known nonsense c.1647 p.C549* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 124 0 0 86 29 25.2174 LINGO2 0 genome.wustl.edu 37 9 27949138 27949138 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 27949138 27949138 G A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1532 p.A511V 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 182 0 0 104 48 31.5789 TAF1L 0 genome.wustl.edu 37 9 32630386 32630386 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 32630386 32630386 T C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.5192 p.K1731R 0.998 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 306 0 0 136 74 35.2381 TAF1L 0 genome.wustl.edu 37 9 32630947 32630947 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 32630947 32630947 G T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4631 p.S1544Y 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 129 0 0 88 35 28.4553 TAF1L 0 genome.wustl.edu 37 9 32632206 32632206 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 32632206 32632206 C A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3372 p.E1124D 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 141 0 0 54 18 25 TAF1L 0 genome.wustl.edu 37 9 32633110 32633110 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 32633110 32633110 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.2468 p.R823Q 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 169 0 0 89 57 39.0411 NOL6 0 genome.wustl.edu 37 9 33472254 33472254 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 33472254 33472254 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.211 p.R71C 1.000 NULL pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 144 0 0 49 32 39.5062 ANKRD18B 0 genome.wustl.edu 37 9 33529130 33529130 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 33529130 33529130 A C SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known silent c.454 p.R152 0.071 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 43 0 0 33 17 34 DOCK8 0 genome.wustl.edu 37 9 336642 336642 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 336642 336642 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.1346 p.A449V 0.999 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 76 0 0 33 23 41.0714 DOCK8 0 genome.wustl.edu 37 9 336644 336644 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 336644 336644 C A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.1348 p.L450I 0.988 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 77 0 0 34 24 41.3793 PTENP1 0 genome.wustl.edu 37 9 33676442 33676442 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 33676442 33676442 G T SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 83 0 0 66 24 26.6667 UBAP2 0 genome.wustl.edu 37 9 33953403 33953403 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 33953403 33953403 T G SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known missense c.936 p.E312D 0.994 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 67 0 0 39 28 41.791 DCAF12 0 genome.wustl.edu 37 9 34107458 34107458 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 34107458 34107458 C T SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.439 p.E147K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 124 1 0.8 71 31 30.3922 NUDT2 0 genome.wustl.edu 37 9 34339065 34339065 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 34339065 34339065 A C SNP NUDT2 ENST00000346365 human ensembl 74_37 +1 known missense c.28 p.I10L 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase - no_errors NUDT2 HGNC ENSG00000164978 125 0 0 75 31 29.2453 DNAI1 0 genome.wustl.edu 37 9 34514589 34514589 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 34514589 34514589 G A SNP DNAI1 ENST00000485580 human ensembl 74_37 +1 known rna NULL NULL 0.640 - - - no_errors DNAI1 HGNC ENSG00000122735 219 0 0 90 46 33.8235 CCL27 0 genome.wustl.edu 37 9 34662389 34662389 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 34662389 34662389 G A SNP CCL27 ENST00000259631 human ensembl 74_37 -1 known missense c.95 p.A32V 0.786 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CCL27 HGNC ENSG00000213927 67 0 0 31 19 38 CCL19 0 genome.wustl.edu 37 9 34689961 34689961 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 34689961 34689961 C T SNP CCL19 ENST00000378800 human ensembl 74_37 -1 known missense c.242 p.R81H 0.968 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL19 HGNC ENSG00000172724 84 0 0 45 20 30.7692 C9orf131 0 genome.wustl.edu 37 9 35043642 35043642 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35043642 35043642 C T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.1016 p.P339L 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 422 0 0 267 128 32.4051 C9orf131 0 genome.wustl.edu 37 9 35044662 35044662 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35044662 35044662 A G SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.2036 p.N679S 0.015 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 99 0 0 50 25 33.3333 PIGO 0 genome.wustl.edu 37 9 35094318 35094318 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35094318 35094318 C A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.550 p.D184Y 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 91 0 0 43 18 29.5082 PIGO 0 genome.wustl.edu 37 9 35095206 35095206 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35095206 35095206 C T SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.357 p.R119 0.993 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 190 0 0 88 46 34.3284 FAM214B 0 genome.wustl.edu 37 9 35108146 35108146 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35108146 35108146 C T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.126 p.A42 0.007 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 35 0 0 20 5 20 ATP8B5P 0 genome.wustl.edu 37 9 35449974 35449974 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35449974 35449974 C A SNP ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.572 - - - no_errors ATP8B5P HGNC ENSG00000179766 80 0 0 68 19 21.8391 SPAG8 0 genome.wustl.edu 37 9 35808275 35808275 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 35808275 35808275 G A SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known silent c.1401 p.C467 0.013 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 77 0 0 46 18 28.125 MELK 0 genome.wustl.edu 37 9 36665442 36665442 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 36665442 36665442 A C SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.1272 p.E424D 0.931 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,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 MELK HGNC ENSG00000165304 99 0 0 89 8 8.24742 ZCCHC7 0 genome.wustl.edu 37 9 37356833 37356833 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37356833 37356833 A G SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known silent c.1200 p.V400 1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 56 0 0 43 19 30.6452 ZBTB5 0 genome.wustl.edu 37 9 37440877 37440877 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37440877 37440877 T C SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.1672 p.T558A 0.018 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 71 0 0 31 15 32.6087 ZBTB5 0 genome.wustl.edu 37 9 37442225 37442225 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37442225 37442225 C A SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.324 p.L108F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 188 0 0 75 51 40.4762 POLR1E 0 genome.wustl.edu 37 9 37501836 37501836 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37501836 37501836 G T SNP POLR1E ENST00000377792 human ensembl 74_37 +1 known missense c.1281 p.E427D 1.000 pfam_RNA_pol-assoc_fac_A49-like pfam_RNA_pol-assoc_fac_A49-like - no_errors POLR1E HGNC ENSG00000137054 66 0 0 34 18 34.6154 TOMM5 0 genome.wustl.edu 37 9 37592334 37592334 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37592334 37592334 G T SNP TOMM5 ENST00000544379 human ensembl 74_37 -1 known missense c.196 p.H66N 0.000 NULL NULL - no_errors TOMM5 HGNC ENSG00000175768 21 0 0 20 5 20 FRMPD1 0 genome.wustl.edu 37 9 37740573 37740573 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37740573 37740573 T G SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.2048 p.F683C 0.002 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 86 0 0 44 14 24.1379 FRMPD1 0 genome.wustl.edu 37 9 37744622 37744622 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37744622 37744622 G A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.2593 p.D865N 0.033 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 91 0 0 42 25 37.3134 TRMT10B 0 genome.wustl.edu 37 9 37769953 37769953 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37769953 37769953 G A SNP TRMT10B ENST00000297994 human ensembl 74_37 +1 known missense c.589 p.E197K 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10B HGNC ENSG00000165275 244 0 0 127 74 36.8159 DCAF10 0 genome.wustl.edu 37 9 37861675 37861675 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 37861675 37861675 A G SNP DCAF10 ENST00000483167 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF10 HGNC ENSG00000122741 15 0 0 5 3 37.5 SPATA31A3 0 genome.wustl.edu 37 9 40702862 40702862 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 40702862 40702862 A G SNP SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known silent c.519 p.P173 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 243 0 0 142 41 22.4044 SPATA31A6 0 genome.wustl.edu 37 9 43627815 43627815 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 43627815 43627815 C A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.872 p.C291F 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 440 0 0 220 109 33.1307 RCL1 0 genome.wustl.edu 37 9 4793106 4793106 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 4793106 4793106 G A SNP RCL1 ENST00000381750 human ensembl 74_37 +1 known silent c.15 p.A5 0.996 pirsf_RNA3'_term_phos_cyc pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2 - no_errors RCL1 HGNC ENSG00000120158 36 0 0 15 13 46.4286 JAK2 0 genome.wustl.edu 37 9 5022092 5022092 + Silent SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 5022092 5022092 A T SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known silent c.105 p.I35 0.331 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 115 0 0 62 48 43.6364 JAK2 0 genome.wustl.edu 37 9 5054708 5054708 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 5054708 5054708 T C SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.760 p.Y254H 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 120 0 0 77 37 32.4561 PDCD1LG2 0 genome.wustl.edu 37 9 5534983 5534983 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 5534983 5534983 A G SNP PDCD1LG2 ENST00000397747 human ensembl 74_37 +1 known silent c.294 p.G98 0.010 smart_Ig_sub pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PDCD1LG2 HGNC ENSG00000197646 64 0 0 42 20 32.2581 KIAA1432 0 genome.wustl.edu 37 9 5689981 5689981 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 5689981 5689981 T G SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known missense c.38 p.F13C 1.000 superfamily_WD40_repeat_dom pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 69 0 0 66 29 30.5263 KIAA1432 0 genome.wustl.edu 37 9 5763584 5763584 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 5763584 5763584 A G SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known missense c.2320 p.T774A 0.056 pfam_Ribosome_control_1 pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 155 0 0 72 36 33.3333 KIAA2026 0 genome.wustl.edu 37 9 5920617 5920617 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 5920617 5920617 A C SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.5379 p.I1793M 0.657 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 540 0 0 303 168 35.6688 RANBP6 0 genome.wustl.edu 37 9 6015379 6015379 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 6015379 6015379 G A SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.229 p.L77F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 153 0 0 80 36 31.0345 IL33 0 genome.wustl.edu 37 9 6252976 6252976 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 6252976 6252976 A C SNP IL33 ENST00000381434 human ensembl 74_37 +1 known missense c.454 p.K152Q 0.000 NULL NULL - no_errors IL33 HGNC ENSG00000137033 51 0 0 33 13 28.2609 UHRF2 0 genome.wustl.edu 37 9 6434268 6434268 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 6434268 6434268 G T SNP UHRF2 ENST00000469298 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF2 HGNC ENSG00000147854 15 0 0 11 5 31.25 GLDC 0 genome.wustl.edu 37 9 6553497 6553497 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 6553497 6553497 G A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known silent c.2328 p.L776 0.993 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 106 0 0 62 26 29.5455 GLDC 0 genome.wustl.edu 37 9 6595109 6595109 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 6595109 6595109 G A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.1166 p.A389V 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 188 0 0 92 64 41.0256 ENSG00000227582 0 genome.wustl.edu 37 9 66517208 66517208 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 66517208 66517208 C T SNP ENSG00000227582 ENST00000590130 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 126 0 0 74 14 15.9091 CBWD6 0 genome.wustl.edu 37 9 69205480 69205480 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 69205480 69205480 C A SNP CBWD6 ENST00000377457 human ensembl 74_37 -1 known missense c.1058 p.R353I 1.000 pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD6 HGNC ENSG00000204790 163 0 0 122 56 31.4607 ANKRD20A4 0 genome.wustl.edu 37 9 69423516 69423516 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 69423516 69423516 T G SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known silent c.1812 p.A604 0.846 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 49 0 0 34 23 40.3509 FOXD4L5 0 genome.wustl.edu 37 9 70177908 70177908 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 70177908 70177908 T C SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.76 p.K26E 0.821 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 36 0 0 20 9 31.0345 PGM5 0 genome.wustl.edu 37 9 71114209 71114209 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 71114209 71114209 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.1546 p.R516W 0.987 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 133 0 0 65 45 40.9091 KANK1 0 genome.wustl.edu 37 9 712098 712098 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 712098 712098 G T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1332 p.M444I 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 116 0 0 48 19 28.3582 FAM122A 0 genome.wustl.edu 37 9 71395903 71395903 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 71395903 71395903 G A SNP FAM122A ENST00000394264 human ensembl 74_37 +1 known missense c.823 p.A275T 0.957 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 354 0 0 224 118 34.5029 APBA1 0 genome.wustl.edu 37 9 72131279 72131279 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 72131279 72131279 G A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.848 p.S283L 0.999 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 39 0 0 22 11 33.3333 SMC5 0 genome.wustl.edu 37 9 72893538 72893538 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 72893538 72893538 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known silent c.675 p.L225 0.595 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 57 0 0 45 12 21.0526 SMC5 0 genome.wustl.edu 37 9 72962937 72962937 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 72962937 72962937 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.2872 p.L958F 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 26 0 0 24 12 33.3333 SMC5 0 genome.wustl.edu 37 9 72965072 72965072 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 72965072 72965072 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known nonsense c.2932 p.R978* 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 92 0 0 52 40 43.4783 TRPM3 0 genome.wustl.edu 37 9 73442905 73442905 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 73442905 73442905 A C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.837 p.N279K 0.999 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 192 0 0 97 36 27.0677 TMEM2 0 genome.wustl.edu 37 9 74349809 74349809 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 74349809 74349809 C T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.1306 p.A436T 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 180 0 0 107 59 35.5422 TMC1 0 genome.wustl.edu 37 9 75420302 75420302 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 75420302 75420302 T G SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.1571 p.F524C 1.000 pfam_TMC pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 168 0 0 155 65 29.5455 TRPM6 0 genome.wustl.edu 37 9 77362808 77362808 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 77362808 77362808 C A SNP TRPM6 ENST00000360774 human ensembl 74_37 -1 known missense c.5080 p.D1694Y 0.992 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 70 0 0 81 24 22.8571 TRPM6 0 genome.wustl.edu 37 9 77377203 77377203 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 77377203 77377203 C A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known nonsense c.4384 p.E1462* 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 145 0 0 98 46 31.9444 VPS13A 0 genome.wustl.edu 37 9 79875040 79875040 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 79875040 79875040 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.2327 p.R776Q 0.996 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 41 0 0 33 13 28.2609 VPS13A 0 genome.wustl.edu 37 9 79908403 79908403 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 79908403 79908403 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known silent c.3486 p.T1162 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 46 0 0 44 17 27.8689 VPS13A 0 genome.wustl.edu 37 9 79952328 79952328 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 79952328 79952328 A C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6253 p.K2085Q 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 57 0 0 54 38 41.3043 GNA14 0 genome.wustl.edu 37 9 80043929 80043929 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 80043929 80043929 C T SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known missense c.617 p.R206Q 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA14 HGNC ENSG00000156049 248 1 0.401606 135 74 35.4067 CEP78 0 genome.wustl.edu 37 9 80863264 80863264 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 80863264 80863264 A C SNP CEP78 ENST00000376597 human ensembl 74_37 +1 known missense c.950 p.K317T 0.811 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 28 0 0 23 11 32.3529 PTPRD 0 genome.wustl.edu 37 9 8317890 8317890 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 8317890 8317890 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5723 p.D1908G 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 196 0 0 129 49 27.5281 SPATA31D5P 0 genome.wustl.edu 37 9 84532096 84532096 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 84532096 84532096 G A SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.122 - - - no_errors SPATA31D5P HGNC ENSG00000240632 78 0 0 34 24 41.3793 SPATA31D5P 0 genome.wustl.edu 37 9 84534584 84534584 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 84534584 84534584 G T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 22 0 0 11 5 31.25 SPATA31D1 0 genome.wustl.edu 37 9 84607583 84607583 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 84607583 84607583 A C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2198 p.N733T 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 72 0 0 41 27 39.7059 SPATA31D1 0 genome.wustl.edu 37 9 84608292 84608292 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 84608292 84608292 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.2907 p.F969 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 273 0 0 127 61 32.4468 RASEF 0 genome.wustl.edu 37 9 85630729 85630729 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 85630729 85630729 C A SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.756 p.K252N 0.985 superfamily_Vinculin/catenin pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 350 0 0 183 100 35.3357 FRMD3 0 genome.wustl.edu 37 9 85964665 85964665 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 85964665 85964665 T C SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known silent c.303 p.P101 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 34 0 0 20 5 20 C9orf64 0 genome.wustl.edu 37 9 86571085 86571085 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 86571085 86571085 C T SNP C9orf64 ENST00000376344 human ensembl 74_37 -1 known missense c.331 p.D111N 1.000 pfam_DUF2419 pfam_DUF2419 - no_errors C9orf64 HGNC ENSG00000165118 165 0 0 96 46 32.3944 RMI1 0 genome.wustl.edu 37 9 86617293 86617293 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 86617293 86617293 T G SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1392 p.C464W 0.001 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 69 0 0 69 30 30.303 SLC28A3 0 genome.wustl.edu 37 9 86928299 86928299 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 86928299 86928299 C T SNP SLC28A3 ENST00000376238 human ensembl 74_37 -1 known missense c.131 p.S44N 0.000 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 78 0 0 42 22 34.375 NTRK2 0 genome.wustl.edu 37 9 87339221 87339221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 87339221 87339221 C T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.803 p.A268V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 241 0 0 161 75 31.7797 ENSG00000230303 0 genome.wustl.edu 37 9 88401069 88401069 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 88401069 88401069 G T SNP ENSG00000230303 ENST00000439544 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-213G2.2 Clone_based_vega_gene ENSG00000230303 117 0 0 87 34 28.0992 GOLM1 0 genome.wustl.edu 37 9 88650485 88650485 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 88650485 88650485 C T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known silent c.813 p.P271 0.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 370 0 0 215 74 25.6055 ZCCHC6 0 genome.wustl.edu 37 9 88924147 88924147 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 88924147 88924147 A C SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.3640 p.F1214V 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 25 0 0 38 20 34.4828 DAPK1 0 genome.wustl.edu 37 9 90264928 90264928 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 90264928 90264928 G T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.1521 p.K507N 0.961 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 102 0 0 39 34 46.5753 SPATA31E1 0 genome.wustl.edu 37 9 90500035 90500035 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 90500035 90500035 G A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known silent c.633 p.E211 0.001 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 227 0 0 114 45 28.3019 SPATA31E1 0 genome.wustl.edu 37 9 90501322 90501322 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 90501322 90501322 C A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known silent c.1920 p.S640 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 130 0 0 47 20 29.8507 SPIN1 0 genome.wustl.edu 37 9 91041483 91041483 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 91041483 91041483 G A SNP SPIN1 ENST00000375859 human ensembl 74_37 +1 known missense c.29 p.G10D 1.000 NULL pfam_Spin_Ssty - no_errors SPIN1 HGNC ENSG00000106723 43 0 0 29 20 40.8163 CKS2 0 genome.wustl.edu 37 9 91930195 91930195 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 91930195 91930195 A G SNP CKS2 ENST00000314355 human ensembl 74_37 +1 known missense c.170 p.Y57C 1.000 pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub - no_errors CKS2 HGNC ENSG00000123975 162 0 0 95 57 37.5 SEMA4D 0 genome.wustl.edu 37 9 91994492 91994492 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 91994492 91994492 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.1716 p.A572 0.310 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 252 0 0 125 67 34.8958 NFIL3 0 genome.wustl.edu 37 9 94171887 94171887 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 94171887 94171887 G A SNP NFIL3 ENST00000297689 human ensembl 74_37 -1 known missense c.1130 p.S377F 0.973 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 263 0 0 152 74 32.7434 ROR2 0 genome.wustl.edu 37 9 94486891 94486891 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 94486891 94486891 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1885 p.V629M 0.980 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 153 0 0 58 33 36.2637 IARS 0 genome.wustl.edu 37 9 95025292 95025292 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 95025292 95025292 C T SNP IARS ENST00000375643 human ensembl 74_37 -1 known silent c.1746 p.P582 0.005 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 51 0 0 42 13 23.6364 OMD 0 genome.wustl.edu 37 9 95177490 95177490 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 95177490 95177490 C A SNP OMD ENST00000375550 human ensembl 74_37 -1 known nonsense c.1210 p.E404* 0.862 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 88 0 0 51 26 33.7662 ASPN 0 genome.wustl.edu 37 9 95222031 95222031 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 95222031 95222031 T G SNP ASPN ENST00000375544 human ensembl 74_37 -1 known missense c.828 p.K276N 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 45 0 0 19 9 32.1429 ECM2 0 genome.wustl.edu 37 9 95263202 95263202 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 95263202 95263202 C T SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known missense c.1738 p.E580K 0.965 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 152 0 0 97 43 30.7143 FGD3 0 genome.wustl.edu 37 9 95738699 95738699 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 95738699 95738699 A G SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.161 p.D54G 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 28 0 0 13 7 35 ZNF169 0 genome.wustl.edu 37 9 97062108 97062108 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 97062108 97062108 G T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known nonsense c.268 p.E90* 0.926 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 87 0 0 67 22 24.7191 HIATL1 0 genome.wustl.edu 37 9 97209126 97209126 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 97209126 97209126 G T SNP HIATL1 ENST00000375344 human ensembl 74_37 +1 known missense c.751 p.D251Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 108 0 0 61 25 29.0698 CDC14B 0 genome.wustl.edu 37 9 99271994 99271994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 99271994 99271994 C A SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.1421 p.R474I 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 113 0 0 58 31 34.8315 CDC14B 0 genome.wustl.edu 37 9 99285665 99285665 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 99285665 99285665 G A SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.1123 p.R375C 0.993 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 203 0 0 100 51 33.7748 ZNF510 0 genome.wustl.edu 37 9 99521253 99521253 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 99521253 99521253 C A SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known missense c.1859 p.R620I 1.000 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 ZNF510 HGNC ENSG00000081386 139 0 0 102 48 32 ZNF782 0 genome.wustl.edu 37 9 99580766 99580766 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 99580766 99580766 T G SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.1539 p.K513N 0.348 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 ZNF782 HGNC ENSG00000196597 251 0 0 138 101 42.2594 ZNF782 0 genome.wustl.edu 37 9 99581316 99581316 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 9 99581316 99581316 C A SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.989 p.R330I 0.962 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF782 HGNC ENSG00000196597 244 0 0 164 62 27.4336 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117378 117378 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 GL000205.1 117378 117378 G T SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.9 p.E3D NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 103 0 0 49 6 10.9091 DRP2 0 genome.wustl.edu 37 X 100494085 100494085 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 100494085 100494085 G A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.554 p.S185N 0.993 smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 103 0 0 19 76 80 NXF5 0 genome.wustl.edu 37 X 101096040 101096040 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 101096040 101096040 C T SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known missense c.428 p.R143Q 0.998 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 111 0 0 39 106 73.1034 TCEAL2 0 genome.wustl.edu 37 X 101381919 101381919 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 101381919 101381919 G T SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known missense c.117 p.K39N 0.000 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 30 0 0 15 35 70 TCEAL6 0 genome.wustl.edu 37 X 101396254 101396254 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 101396254 101396254 T G SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known missense c.50 p.K17T 0.008 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 25 0 0 10 42 80.7692 NXF2B 0 genome.wustl.edu 37 X 101624960 101624960 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 101624960 101624960 G A SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known missense c.157 p.R53C 0.000 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 14 0 0 12 9 42.8571 GPRASP1 0 genome.wustl.edu 37 X 101911263 101911263 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 101911263 101911263 G T SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known nonsense c.2422 p.E808* 0.005 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 114 0 0 36 118 76.6234 BHLHB9 0 genome.wustl.edu 37 X 102005180 102005180 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 102005180 102005180 A G SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known silent c.1257 p.S419 0.995 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 82 0 0 17 92 84.4037 TCEAL1 0 genome.wustl.edu 37 X 102885266 102885266 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 102885266 102885266 G T SNP TCEAL1 ENST00000372624 human ensembl 74_37 +1 known missense c.422 p.R141I 0.979 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL1 HGNC ENSG00000172465 30 0 0 11 33 75 GLRA4 0 genome.wustl.edu 37 X 102962423 102962423 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 102962423 102962423 T C SNP GLRA4 ENST00000372617 human ensembl 74_37 -1 known missense c.1103 p.E368G 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 59 0 0 50 29 36.7089 ZCCHC18 0 genome.wustl.edu 37 X 103359829 103359829 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 103359829 103359829 C T SNP ZCCHC18 ENST00000537356 human ensembl 74_37 +1 putative nonsense c.1027 p.R343* 0.029 superfamily_Znf_CCHC superfamily_Znf_CCHC - no_errors ZCCHC18 HGNC ENSG00000166707 13 0 0 4 16 80 IL1RAPL2 0 genome.wustl.edu 37 X 105011054 105011054 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 105011054 105011054 C T SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known silent c.1461 p.F487 0.995 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 87 0 0 27 98 78.4 MUM1L1 0 genome.wustl.edu 37 X 105449594 105449594 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 105449594 105449594 A G SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.169 p.I57V 0.014 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 24 0 0 0 16 100 FRMPD3 0 genome.wustl.edu 37 X 106803505 106803505 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 106803505 106803505 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known nonsense c.880 p.R294* 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 87 0 0 69 40 36.6972 IRS4 0 genome.wustl.edu 37 X 107976445 107976445 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 107976445 107976445 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known nonsense c.3130 p.R1044* 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 87 0 0 20 103 83.7398 IRS4 0 genome.wustl.edu 37 X 107978696 107978696 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 107978696 107978696 G T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.879 p.F293L 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 120 0 0 38 114 75 GUCY2F 0 genome.wustl.edu 37 X 108638569 108638569 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 108638569 108638569 C T SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known splice_site c.2424+1 e11+1 1.000 - - - no_errors GUCY2F HGNC ENSG00000101890 63 0 0 26 41 61.194 GUCY2F 0 genome.wustl.edu 37 X 108638641 108638641 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 108638641 108638641 G T SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.2353 p.L785I 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 123 0 0 32 133 80.6061 RGAG1 0 genome.wustl.edu 37 X 109696171 109696171 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 109696171 109696171 G T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.2326 p.D776Y 0.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 69 0 0 17 100 85.4701 PAK3 0 genome.wustl.edu 37 X 110385348 110385348 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 110385348 110385348 G A SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.200 p.R67H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 88 0 0 30 100 76.9231 PAK3 0 genome.wustl.edu 37 X 110406810 110406810 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 110406810 110406810 T G SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known silent c.729 p.V243 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 57 0 0 34 87 71.9008 ALG13 0 genome.wustl.edu 37 X 110928252 110928252 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 110928252 110928252 G A SNP ALG13 ENST00000371979 human ensembl 74_37 +1 known missense c.304 p.E102K 1.000 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ENSG00000101901 231 0 0 67 287 81.0734 ALG13 0 genome.wustl.edu 37 X 110988113 110988113 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 110988113 110988113 C T SNP ALG13 ENST00000394780 human ensembl 74_37 +1 putative silent c.2913 p.S971 0.994 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 16 0 0 9 20 68.9655 ALG13 0 genome.wustl.edu 37 X 111000794 111000794 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 111000794 111000794 T G SNP ALG13 ENST00000487243 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ALG13 HGNC ENSG00000101901 15 0 0 10 18 64.2857 TRPC5 0 genome.wustl.edu 37 X 111155848 111155848 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 111155848 111155848 G A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.571 p.R191C 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 119 0 0 23 102 81.6 HTR2C 0 genome.wustl.edu 37 X 114082759 114082759 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 114082759 114082759 T G SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.543 p.I181M 0.994 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_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 53 0 0 16 49 75.3846 LRCH2 0 genome.wustl.edu 37 X 114357648 114357648 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 114357648 114357648 G A SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known missense c.1957 p.R653C 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 8 0 0 3 28 90.3226 AGTR2 0 genome.wustl.edu 37 X 115304594 115304594 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 115304594 115304594 C A SNP AGTR2 ENST00000371906 human ensembl 74_37 +1 known missense c.1061 p.S354Y 0.574 prints_ATII_AT2_rcpt pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 85 0 0 24 94 79.661 MSL3 0 genome.wustl.edu 37 X 11778982 11778982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 11778982 11778982 G A SNP MSL3 ENST00000312196 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 superfamily_Chromodomain-like pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 13 0 0 5 10 66.6667 DOCK11 0 genome.wustl.edu 37 X 117805097 117805097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 117805097 117805097 C T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.5188 p.R1730C 0.988 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 33 0 0 19 63 76.8293 LONRF3 0 genome.wustl.edu 37 X 118108896 118108896 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 118108896 118108896 G A SNP LONRF3 ENST00000371628 human ensembl 74_37 +1 known silent c.153 p.T51 0.003 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 13 0 0 2 4 66.6667 KIAA1210 0 genome.wustl.edu 37 X 118230472 118230472 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 118230472 118230472 C A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.1251 p.K417N 0.015 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 32 0 0 13 40 75.4717 CUL4B 0 genome.wustl.edu 37 X 119673163 119673163 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 119673163 119673163 T G SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.1755 p.K585N 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 10 0 0 4 15 78.9474 CUL4B 0 genome.wustl.edu 37 X 119694325 119694325 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 119694325 119694325 C A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.223 p.D75Y 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 49 0 0 20 45 69.2308 C1GALT1C1 0 genome.wustl.edu 37 X 119760099 119760099 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 119760099 119760099 A G SNP C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known missense c.923 p.V308A 0.856 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 63 0 0 22 107 82.9457 XIAP 0 genome.wustl.edu 37 X 123020225 123020225 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123020225 123020225 G A SNP XIAP ENST00000355640 human ensembl 74_37 +1 known missense c.713 p.R238Q 0.164 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 88 0 0 24 108 81.8182 STAG2 0 genome.wustl.edu 37 X 123171427 123171427 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123171427 123171427 A C SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known silent c.339 p.A113 0.946 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 84 0 0 25 112 81.7518 STAG2 0 genome.wustl.edu 37 X 123202434 123202434 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123202434 123202434 G A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known silent c.2286 p.K762 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 42 0 0 14 66 82.5 TENM1 0 genome.wustl.edu 37 X 123517913 123517913 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123517913 123517913 A C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.6868 p.L2290V 0.982 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 112 0 0 49 173 77.9279 TENM1 0 genome.wustl.edu 37 X 123538903 123538903 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123538903 123538903 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5369 p.S1790L 0.970 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 82 0 0 27 95 77.8689 TENM1 0 genome.wustl.edu 37 X 123657246 123657246 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123657246 123657246 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3001 p.P1001S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 82 0 0 15 77 83.6957 TENM1 0 genome.wustl.edu 37 X 123870961 123870961 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 123870961 123870961 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.622 p.K208Q 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 80 0 0 16 85 84.1584 FRMPD4 0 genome.wustl.edu 37 X 12701697 12701697 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 12701697 12701697 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.564 p.G188 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 41 0 0 7 22 75.8621 ACTRT1 0 genome.wustl.edu 37 X 127186142 127186142 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 127186142 127186142 T C SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.44 p.D15G 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 80 0 0 26 83 76.1468 SMARCA1 0 genome.wustl.edu 37 X 128599549 128599549 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 128599549 128599549 C T SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.2978 p.R993Q 1.000 pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 67 0 0 33 122 78.7097 SMARCA1 0 genome.wustl.edu 37 X 128599864 128599864 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 128599864 128599864 C T SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.2774 p.R925K 1.000 pfam_SLIDE,superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 96 0 0 33 111 77.0833 SASH3 0 genome.wustl.edu 37 X 128926655 128926655 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 128926655 128926655 G A SNP SASH3 ENST00000356892 human ensembl 74_37 +1 known missense c.644 p.G215D 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 120 0 0 28 73 72.2772 TLR7 0 genome.wustl.edu 37 X 12905084 12905084 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 12905084 12905084 C A SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known missense c.1457 p.S486Y 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 135 0 0 30 76 71.6981 TLR8 0 genome.wustl.edu 37 X 12937551 12937551 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 12937551 12937551 T C SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.392 p.L131P 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 107 0 0 23 78 77.2277 TLR8 0 genome.wustl.edu 37 X 12940036 12940036 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 12940036 12940036 T G SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known silent c.2877 p.A959 0.747 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 69 0 0 21 41 66.129 USP26 0 genome.wustl.edu 37 X 132159805 132159805 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 132159805 132159805 C A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.2444 p.R815I 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 63 0 0 21 91 81.25 CCDC160 0 genome.wustl.edu 37 X 133379644 133379644 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 133379644 133379644 G A SNP CCDC160 ENST00000370809 human ensembl 74_37 +1 known missense c.814 p.A272T 0.116 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 23 0 0 3 29 90.625 MIR450A1 0 genome.wustl.edu 37 X 133674439 133674439 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 133674439 133674439 G A SNP MIR450A1 ENST00000362262 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors MIR450A1 HGNC ENSG00000199132 43 0 0 10 41 80.3922 CXorf48 0 genome.wustl.edu 37 X 134303569 134303569 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 134303569 134303569 A C SNP CXorf48 ENST00000276241 human ensembl 74_37 -1 known silent c.228 p.V76 0.000 superfamily_NA-bd_OB-fold superfamily_NA-bd_OB-fold - no_errors CXorf48 HGNC ENSG00000169551 40 0 0 13 28 68.2927 SAGE1 0 genome.wustl.edu 37 X 134991090 134991090 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 134991090 134991090 C A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known silent c.1509 p.V503 0.003 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 82 0 0 26 90 77.5862 SAGE1 0 genome.wustl.edu 37 X 134993842 134993842 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 134993842 134993842 A G SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.2251 p.T751A 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 163 0 0 50 172 77.4775 SAGE1 0 genome.wustl.edu 37 X 134994097 134994097 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 134994097 134994097 C T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known nonsense c.2506 p.R836* 0.993 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 56 0 0 23 59 71.9512 MAP7D3 0 genome.wustl.edu 37 X 135303041 135303041 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 135303041 135303041 A C SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.2315 p.F772C 0.001 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 226 0 0 64 248 79.4872 GPR112 0 genome.wustl.edu 37 X 135431650 135431650 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 135431650 135431650 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.5785 p.L1929 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 114 0 0 28 132 82.5 GPR112 0 genome.wustl.edu 37 X 135432563 135432563 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 135432563 135432563 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.6698 p.S2233L 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 76 0 0 10 67 87.013 GPR112 0 genome.wustl.edu 37 X 135443643 135443643 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 135443643 135443643 G A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.7174 p.A2392T 0.164 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 49 0 0 15 49 76.5625 CD40LG 0 genome.wustl.edu 37 X 135741442 135741442 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 135741442 135741442 C T SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known silent c.654 p.C218 0.002 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 210 0 0 71 214 75.0877 ARHGEF6 0 genome.wustl.edu 37 X 135754267 135754267 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 135754267 135754267 C A SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.2047 p.D683Y 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 117 0 0 27 108 80 GPR101 0 genome.wustl.edu 37 X 136113696 136113696 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 136113696 136113696 G A SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known silent c.138 p.F46 0.007 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 85 0 0 23 84 78.5047 MCF2 0 genome.wustl.edu 37 X 138689852 138689852 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 138689852 138689852 C A SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.1923 p.K641N 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 40 0 0 46 10 17.8571 MAGEC3 0 genome.wustl.edu 37 X 140967039 140967039 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 140967039 140967039 T G SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.337 p.S113A 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 22 0 0 9 8 47.0588 MAGEC1 0 genome.wustl.edu 37 X 140996572 140996572 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 140996572 140996572 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known nonsense c.3382 p.E1128* 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 80 0 0 77 13 14.4444 RNA5SP498 0 genome.wustl.edu 37 X 1419221 1419221 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 1419221 1419221 C T SNP RNA5SP498 ENST00000411342 human ensembl 74_37 -1 known rna NULL NULL 0.081 - - - no_errors RNA5SP498 HGNC ENSG00000223274 8 0 0 7 4 36.3636 SLITRK4 0 genome.wustl.edu 37 X 142718309 142718309 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 142718309 142718309 C T SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.616 p.V206I 0.816 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 87 0 0 78 36 31.5789 SPANXN2 0 genome.wustl.edu 37 X 142795585 142795585 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 142795585 142795585 C T SNP SPANXN2 ENST00000370498 human ensembl 74_37 -1 known silent c.93 p.P31 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 55 0 0 14 60 81.0811 FMR1NB 0 genome.wustl.edu 37 X 147106456 147106456 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 147106456 147106456 G A SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known missense c.704 p.R235Q 0.000 NULL superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 54 0 0 22 68 75.5556 AFF2 0 genome.wustl.edu 37 X 147743734 147743734 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 147743734 147743734 T C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.486 p.D162 0.983 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 150 0 0 42 167 79.9043 MAGEA11 0 genome.wustl.edu 37 X 148797493 148797493 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 148797493 148797493 G A SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known missense c.347 p.R116K 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 110 0 0 17 89 83.9623 PASD1 0 genome.wustl.edu 37 X 150840971 150840971 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 150840971 150840971 T C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1754 p.I585T 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 60 0 0 106 37 25.8741 FATE1 0 genome.wustl.edu 37 X 150891227 150891227 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 150891227 150891227 A C SNP FATE1 ENST00000370350 human ensembl 74_37 +1 known missense c.548 p.Q183P 0.437 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 59 0 0 37 40 51.9481 GABRQ 0 genome.wustl.edu 37 X 151820165 151820165 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 151820165 151820165 C T SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.1078 p.R360C 0.008 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 79 0 0 20 144 87.8049 ASB9 0 genome.wustl.edu 37 X 15267048 15267048 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 15267048 15267048 A G SNP ASB9 ENST00000380488 human ensembl 74_37 -1 known missense c.578 p.V193A 0.086 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 66 0 0 21 22 51.1628 ATP2B3 0 genome.wustl.edu 37 X 152815144 152815144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 152815144 152815144 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1528 p.D510N 0.999 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 78 0 0 58 76 56.7164 ABCD1 0 genome.wustl.edu 37 X 153001668 153001668 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153001668 153001668 C T SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1184 p.A395V 0.940 superfamily_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 123 0 0 24 124 83.7838 SRPK3 0 genome.wustl.edu 37 X 153046776 153046776 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153046776 153046776 G T SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known missense c.165 p.Q55H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 33 0 0 47 10 17.5439 SRPK3 0 genome.wustl.edu 37 X 153049822 153049822 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153049822 153049822 C T SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known silent c.1221 p.I407 0.402 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 41 0 0 8 47 85.4545 L1CAM 0 genome.wustl.edu 37 X 153133495 153133495 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153133495 153133495 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1792 p.E598K 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 96 0 0 22 126 85.1351 AVPR2 0 genome.wustl.edu 37 X 153171980 153171980 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153171980 153171980 C T SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.914 p.A305V 0.417 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_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 183 0 0 48 206 81.1024 HCFC1 0 genome.wustl.edu 37 X 153228874 153228874 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153228874 153228874 C A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.514 p.D172Y 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 33 0 0 28 36 56.25 ASB11 0 genome.wustl.edu 37 X 15333600 15333600 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 15333600 15333600 C T SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known missense c.128 p.G43E 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 58 0 0 18 36 66.6667 OPN1LW 0 genome.wustl.edu 37 X 153416361 153416361 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153416361 153416361 T G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.346 p.S116A 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 119 0 0 144 42 22.5806 TKTL1 0 genome.wustl.edu 37 X 153549110 153549110 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153549110 153549110 G A SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.1036 p.V346M 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 107 0 0 87 99 53.2258 PLXNA3 0 genome.wustl.edu 37 X 153693557 153693557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153693557 153693557 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.2240 p.A747V 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 20 0 0 18 9 33.3333 GAB3 0 genome.wustl.edu 37 X 153944425 153944425 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153944425 153944425 G A SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known silent c.252 p.F84 0.403 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 161 0 0 37 234 86.3469 DKC1 0 genome.wustl.edu 37 X 153993212 153993212 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153993212 153993212 C T SNP DKC1 ENST00000369550 human ensembl 74_37 +1 known missense c.55 p.R19W 0.016 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 91 0 0 19 160 89.3855 DKC1 0 genome.wustl.edu 37 X 153995639 153995639 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 153995639 153995639 G A SNP DKC1 ENST00000369550 human ensembl 74_37 +1 known missense c.622 p.D208N 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_PsdUridine_synth_B_fam pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 122 0 0 182 74 28.9062 F8 0 genome.wustl.edu 37 X 154185408 154185408 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 154185408 154185408 C A SNP F8 ENST00000360256 human ensembl 74_37 -1 known nonsense c.1576 p.E526* 0.998 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 100 0 0 169 52 23.5294 F8 0 genome.wustl.edu 37 X 154194944 154194944 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 154194944 154194944 A G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.1028 p.V343A 0.988 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 73 0 0 17 123 87.8571 PIR 0 genome.wustl.edu 37 X 15474167 15474167 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 15474167 15474167 G A SNP PIR ENST00000380420 human ensembl 74_37 -1 known missense c.284 p.A95V 0.997 pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC ENSG00000087842 173 1 0.574713 44 99 69.2308 IL9R 0 genome.wustl.edu 37 X 155239771 155239771 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 155239771 155239771 G A SNP IL9R ENST00000244174 human ensembl 74_37 +1 known silent c.1263 p.P421 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 59 0 0 25 3 10.7143 GRPR 0 genome.wustl.edu 37 X 16170750 16170750 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 16170750 16170750 T C SNP GRPR ENST00000380289 human ensembl 74_37 +1 known silent c.1137 p.C379 0.996 prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 180 0 0 56 79 58.5185 ASMT 0 genome.wustl.edu 37 X 1742126 1742126 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 1742126 1742126 C T SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.164 p.A55V 0.061 pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 64 0 0 35 14 28.5714 ASMT 0 genome.wustl.edu 37 X 1755266 1755266 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 1755266 1755266 G T SNP ASMT ENST00000509780 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ASMT HGNC ENSG00000196433 147 0 0 68 40 37.037 NHS 0 genome.wustl.edu 37 X 17745600 17745600 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 17745600 17745600 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.3311 p.S1104L 0.080 NULL NULL - no_errors NHS HGNC ENSG00000188158 113 1 0.877193 34 70 67.3077 PHKA2 0 genome.wustl.edu 37 X 18938281 18938281 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 18938281 18938281 G A SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.1832 p.S611L 0.993 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 65 0 0 24 63 72.4138 MAP3K15 0 genome.wustl.edu 37 X 19410570 19410570 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 19410570 19410570 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.2216 p.R739Q 0.934 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 122 0 0 17 61 78.2051 SH3KBP1 0 genome.wustl.edu 37 X 19626054 19626054 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 19626054 19626054 A C SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known splice_site c.1005+2 e9+2 1.000 - - - no_errors SH3KBP1 HGNC ENSG00000147010 40 0 0 9 24 72.7273 RPS6KA3 0 genome.wustl.edu 37 X 20195149 20195149 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 20195149 20195149 C T SNP RPS6KA3 ENST00000379565 human ensembl 74_37 -1 known missense c.899 p.R300Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 69 0 0 25 43 63.2353 DHRSX 0 genome.wustl.edu 37 X 2139159 2139159 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 2139159 2139159 T C SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.916 p.T306A 0.815 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 174 0 0 64 44 40.7407 DDX53 0 genome.wustl.edu 37 X 23019630 23019630 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 23019630 23019630 G A SNP DDX53 ENST00000327968 human ensembl 74_37 +1 known missense c.1456 p.D486N 0.932 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 76 0 0 22 46 67.6471 DHRSX 0 genome.wustl.edu 37 X 2326792 2326792 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 2326792 2326792 C T SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.280 p.D94N 0.010 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 30 0 0 25 8 24.2424 PTCHD1 0 genome.wustl.edu 37 X 23397823 23397823 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 23397823 23397823 T C SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.467 p.V156A 0.991 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 85 0 0 22 50 69.4444 PTCHD1 0 genome.wustl.edu 37 X 23411641 23411641 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 23411641 23411641 G T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.2006 p.R669M 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 74 0 0 24 32 57.1429 CXorf58 0 genome.wustl.edu 37 X 23928489 23928489 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 23928489 23928489 C T SNP CXorf58 ENST00000379211 human ensembl 74_37 +1 known missense c.70 p.R24C 0.000 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 41 0 0 14 96 87.2727 POLA1 0 genome.wustl.edu 37 X 24751894 24751894 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 24751894 24751894 T C SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known silent c.1794 p.C598 0.998 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 40 0 0 6 53 89.8305 POLA1 0 genome.wustl.edu 37 X 24751916 24751916 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 24751916 24751916 G T SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known nonsense c.1816 p.E606* 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 38 0 0 32 25 43.8596 MAGEB2 0 genome.wustl.edu 37 X 30237408 30237408 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 30237408 30237408 G T SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.711 p.E237D 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 28 0 0 29 21 42 DMD 0 genome.wustl.edu 37 X 31164479 31164479 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 31164479 31164479 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.10850 p.S3617Y 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 43 0 0 41 20 32.7869 DMD 0 genome.wustl.edu 37 X 32235105 32235105 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 32235105 32235105 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6366 p.E2122D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,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 20 0 0 6 28 82.3529 DMD 0 genome.wustl.edu 37 X 32328264 32328264 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 32328264 32328264 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6052 p.L2018I 0.708 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,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 67 0 0 63 32 33.6842 MXRA5 0 genome.wustl.edu 37 X 3239545 3239545 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 3239545 3239545 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.4181 p.G1394D 0.029 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 23 0 0 17 3 15 CXorf22 0 genome.wustl.edu 37 X 36007570 36007570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 36007570 36007570 A C SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.2848 p.I950L 0.981 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 33 0 0 25 24 48.9796 XK 0 genome.wustl.edu 37 X 37545370 37545370 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 37545370 37545370 G A SNP XK ENST00000378616 human ensembl 74_37 +1 known silent c.156 p.Q52 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 27 0 0 5 23 82.1429 CYBB 0 genome.wustl.edu 37 X 37665699 37665699 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 37665699 37665699 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known silent c.1374 p.L458 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 74 0 0 48 35 42.1687 SYTL5 0 genome.wustl.edu 37 X 37984742 37984742 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 37984742 37984742 G A SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known missense c.2099 p.R700H 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL5 HGNC ENSG00000147041 53 0 0 58 35 37.6344 RPGR 0 genome.wustl.edu 37 X 38158349 38158349 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 38158349 38158349 G A SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.1105 p.R369C 0.001 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 29 0 0 24 15 38.4615 USP9X 0 genome.wustl.edu 37 X 41000424 41000424 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 41000424 41000424 G T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known nonsense c.976 p.E326* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 11 0 0 20 16 44.4444 GPR82 0 genome.wustl.edu 37 X 41587118 41587118 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 41587118 41587118 A C SNP GPR82 ENST00000302548 human ensembl 74_37 +1 known missense c.839 p.N280T 0.314 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 34 0 0 72 6 7.69231 MIR221 0 genome.wustl.edu 37 X 45605641 45605641 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 45605641 45605641 G A SNP MIR221 ENST00000385135 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors MIR221 HGNC ENSG00000207870 31 0 0 28 12 30 RBM10 0 genome.wustl.edu 37 X 47041358 47041358 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47041358 47041358 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.1702 p.D568N 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 43 0 0 31 20 39.2157 RBM10 0 genome.wustl.edu 37 X 47044457 47044457 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47044457 47044457 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.1954 p.A652T 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 19 0 0 7 6 46.1538 UBA1 0 genome.wustl.edu 37 X 47065665 47065665 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47065665 47065665 G A SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known missense c.1760 p.R587H 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 21 0 0 12 20 62.5 ZNF157 0 genome.wustl.edu 37 X 47272103 47272103 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47272103 47272103 A G SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.631 p.T211A 0.997 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 ZNF157 HGNC ENSG00000147117 58 0 0 19 59 75.641 ZNF41 0 genome.wustl.edu 37 X 47308810 47308810 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47308810 47308810 C A SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known missense c.389 p.R130I 0.998 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 28 0 0 19 14 42.4242 SYN1 0 genome.wustl.edu 37 X 47464761 47464761 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47464761 47464761 A C SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known missense c.545 p.F182C 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_dom,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 26 0 0 30 4 11.7647 ELK1 0 genome.wustl.edu 37 X 47500810 47500810 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47500810 47500810 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known silent c.31 p.L11 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 28 0 0 8 32 80 ZNF630 0 genome.wustl.edu 37 X 47919043 47919043 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 47919043 47919043 T G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.788 p.N263T 0.750 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 ZNF630 HGNC ENSG00000221994 84 0 0 103 24 18.8976 GLOD5 0 genome.wustl.edu 37 X 48632033 48632033 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 48632033 48632033 T C SNP GLOD5 ENST00000470676 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GLOD5 HGNC ENSG00000171433 8 0 0 5 6 54.5455 PQBP1 0 genome.wustl.edu 37 X 48760018 48760018 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 48760018 48760018 G A SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.587 p.R196Q 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 14 0 0 9 13 59.0909 PIM2 0 genome.wustl.edu 37 X 48772563 48772563 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 48772563 48772563 T G SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known missense c.329 p.E110A 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 25 0 0 8 12 60 OTUD5 0 genome.wustl.edu 37 X 48791968 48791968 + Splice_Site SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 48791968 48791968 C G SNP OTUD5 ENST00000156084 human ensembl 74_37 -1 known splice_site c.925+1 e4+1 0.595 - - - no_errors OTUD5 HGNC ENSG00000068308 111 0 0 69 42 37.8378 OTUD5 0 genome.wustl.edu 37 X 48792100 48792100 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 48792100 48792100 T C SNP OTUD5 ENST00000156084 human ensembl 74_37 -1 known missense c.794 p.D265G 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC ENSG00000068308 215 0 0 154 88 36.3636 KCND1 0 genome.wustl.edu 37 X 48825826 48825826 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 48825826 48825826 C T SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.853 p.D285N 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 22 0 0 5 13 72.2222 CACNA1F 0 genome.wustl.edu 37 X 49081339 49081339 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 49081339 49081339 G T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known nonsense c.1794 p.C598* 0.999 pfam_Ion_trans_dom,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 24 0 0 5 10 66.6667 CCNB3 0 genome.wustl.edu 37 X 50028141 50028141 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 50028141 50028141 A C SNP CCNB3 ENST00000491907 human ensembl 74_37 +1 known rna NULL NULL 0.236 - - - no_errors CCNB3 HGNC ENSG00000147082 43 0 0 16 18 52.9412 CCNB3 0 genome.wustl.edu 37 X 50052637 50052637 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 50052637 50052637 A C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.1468 p.I490L 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 31 0 0 11 29 72.5 CCNB3 0 genome.wustl.edu 37 X 50055601 50055601 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 50055601 50055601 A C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3392 p.K1131T 1.000 superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 87 0 0 19 52 73.2394 SHROOM4 0 genome.wustl.edu 37 X 50377847 50377847 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 50377847 50377847 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1226 p.R409H 1.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 23 0 0 9 13 59.0909 MAGED1 0 genome.wustl.edu 37 X 51638836 51638836 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 51638836 51638836 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.901 p.R301W 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 11 0 0 2 5 71.4286 MAGED1 0 genome.wustl.edu 37 X 51640603 51640603 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 51640603 51640603 C T SNP MAGED1 ENST00000494718 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGED1 HGNC ENSG00000179222 43 0 0 12 11 47.8261 SSX7 0 genome.wustl.edu 37 X 52674499 52674499 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 52674499 52674499 G A SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known silent c.561 p.D187 0.195 pfam_SSXRD_motif pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 55 0 0 19 30 61.2245 HUWE1 0 genome.wustl.edu 37 X 53574690 53574690 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 53574690 53574690 A G SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10580 p.V3527A 0.956 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 24 0 0 3 7 70 HUWE1 0 genome.wustl.edu 37 X 53613488 53613488 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 53613488 53613488 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.4786 p.T1596A 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 16 0 0 3 12 80 FAM120C 0 genome.wustl.edu 37 X 54114280 54114280 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 54114280 54114280 G T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2545 p.P849T 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 52 0 0 9 24 72.7273 FAM120C 0 genome.wustl.edu 37 X 54159186 54159186 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 54159186 54159186 A C SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2001 p.S667R 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 17 0 0 5 10 66.6667 FGD1 0 genome.wustl.edu 37 X 54496803 54496803 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 54496803 54496803 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.747 p.S249 0.058 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 23 0 0 2 13 86.6667 TRO 0 genome.wustl.edu 37 X 54955213 54955213 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 54955213 54955213 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.2056 p.D686N 0.243 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 22 0 0 6 14 70 MAGEH1 0 genome.wustl.edu 37 X 55479459 55479459 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 55479459 55479459 G A SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known missense c.652 p.A218T 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 57 0 0 11 24 68.5714 SPIN3 0 genome.wustl.edu 37 X 57021144 57021144 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 57021144 57021144 A G SNP SPIN3 ENST00000374919 human ensembl 74_37 -1 known silent c.237 p.N79 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN3 HGNC ENSG00000204271 171 0 0 51 88 63.3094 ZXDB 0 genome.wustl.edu 37 X 57619029 57619029 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 57619029 57619029 G A SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known missense c.548 p.G183D 0.986 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 8 0 0 8 9 52.9412 ZXDA 0 genome.wustl.edu 37 X 57935217 57935217 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 57935217 57935217 C T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known silent c.1638 p.P546 0.141 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 60 0 0 14 34 70.8333 NLGN4X 0 genome.wustl.edu 37 X 5821576 5821576 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 5821576 5821576 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1203 p.D401 0.993 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 31 0 0 9 22 70.9677 SHOX 0 genome.wustl.edu 37 X 591664 591664 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 591664 591664 C A SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.32 p.S11Y 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 350 0 0 173 68 28.2158 SHOX 0 genome.wustl.edu 37 X 601807 601807 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 601807 601807 G A SNP SHOX ENST00000381578 human ensembl 74_37 +1 known silent c.618 p.R206 0.993 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 131 0 0 50 23 31.5068 NLGN4X 0 genome.wustl.edu 37 X 6069042 6069042 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 6069042 6069042 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.466 p.E156K 0.999 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 55 0 0 17 46 73.0159 AMER1 0 genome.wustl.edu 37 X 63412011 63412011 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 63412011 63412011 C A SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known nonsense c.1156 p.E386* 0.737 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 78 0 0 28 38 57.5758 MSN 0 genome.wustl.edu 37 X 64936689 64936689 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 64936689 64936689 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.22 p.R8C 0.996 pirsf_ERM,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 58 0 0 9 28 75.6757 STARD8 0 genome.wustl.edu 37 X 67935147 67935147 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 67935147 67935147 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.163 p.P55S 0.993 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 18 0 0 1 8 88.8889 DLG3 0 genome.wustl.edu 37 X 69669649 69669649 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 69669649 69669649 C T SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.697 p.R233W 1.000 superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 11 0 0 4 5 55.5556 IL2RG 0 genome.wustl.edu 37 X 70331290 70331290 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 70331290 70331290 C A SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known nonsense c.100 p.E34* 1.000 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 48 0 0 7 21 75 TAF1 0 genome.wustl.edu 37 X 70597031 70597031 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 70597031 70597031 G A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.701 p.R234Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 57 0 0 9 33 78.5714 TAF1 0 genome.wustl.edu 37 X 70601751 70601751 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 70601751 70601751 G A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.1516 p.D506N 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 66 0 0 20 34 62.963 TAF1 0 genome.wustl.edu 37 X 70608626 70608626 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 70608626 70608626 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.2605 p.R869C 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 97 0 0 16 66 80.4878 RGAG4 0 genome.wustl.edu 37 X 71349753 71349753 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 71349753 71349753 G A SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known silent c.1638 p.R546 0.032 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 42 0 0 36 4 10 RPS4X 0 genome.wustl.edu 37 X 71493691 71493691 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 71493691 71493691 C T SNP RPS4X ENST00000316084 human ensembl 74_37 -1 known silent c.492 p.L164 1.000 pfam_Ribosomal_S4e_central_region,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central_region,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 37 0 0 32 3 8.57143 NAP1L2 0 genome.wustl.edu 37 X 72433253 72433253 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 72433253 72433253 C T SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.1076 p.R359Q 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 66 0 0 20 44 68.75 NAP1L2 0 genome.wustl.edu 37 X 72433985 72433985 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 72433985 72433985 A C SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.344 p.L115R 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 71 0 0 27 42 60.8696 MAP2K4P1 0 genome.wustl.edu 37 X 72744984 72744984 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 72744984 72744984 G T SNP MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 18 0 0 2 19 90.4762 XIST 0 genome.wustl.edu 37 X 73041814 73041814 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73041814 73041814 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 16 0 0 5 8 61.5385 XIST 0 genome.wustl.edu 37 X 73045047 73045047 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73045047 73045047 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 22 0 0 12 21 63.6364 XIST 0 genome.wustl.edu 37 X 73048994 73048994 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73048994 73048994 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 34 0 0 9 15 62.5 XIST 0 genome.wustl.edu 37 X 73064507 73064507 + RNA SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73064507 73064507 T C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 61 0 0 14 35 71.4286 XIST 0 genome.wustl.edu 37 X 73064940 73064940 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73064940 73064940 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 92 0 0 23 66 74.1573 XIST 0 genome.wustl.edu 37 X 73067487 73067487 + RNA SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73067487 73067487 C A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors XIST HGNC ENSG00000229807 10 0 0 1 5 83.3333 RLIM 0 genome.wustl.edu 37 X 73811613 73811613 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73811613 73811613 G A SNP RLIM ENST00000332687 human ensembl 74_37 -1 known nonsense c.1537 p.R513* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 34 0 0 12 27 69.2308 KIAA2022 0 genome.wustl.edu 37 X 73965454 73965454 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 73965454 73965454 G A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.32 p.A11V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 33 0 0 8 15 65.2174 ATRX 0 genome.wustl.edu 37 X 76938401 76938401 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 76938401 76938401 T G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.2347 p.S783R 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 143 0 0 52 104 66.6667 MAGT1 0 genome.wustl.edu 37 X 77096753 77096753 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 77096753 77096753 T C SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known silent c.987 p.G329 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 66 0 0 13 49 79.0323 DACH2 0 genome.wustl.edu 37 X 85404080 85404080 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 85404080 85404080 C T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known silent c.456 p.F152 0.998 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 37 0 0 10 20 66.6667 KLHL4 0 genome.wustl.edu 37 X 86888822 86888822 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 86888822 86888822 A C SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1623 p.E541D 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 45 0 0 20 27 57.4468 CPXCR1 0 genome.wustl.edu 37 X 88008703 88008703 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 88008703 88008703 T C SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known silent c.288 p.I96 0.691 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 28 0 0 5 22 81.4815 TBL1X 0 genome.wustl.edu 37 X 9679717 9679717 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 9679717 9679717 G A SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known silent c.1506 p.T502 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 44 0 0 9 25 73.5294 SHROOM2 0 genome.wustl.edu 37 X 9863383 9863383 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 9863383 9863383 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.1435 p.P479S 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 25 0 0 5 19 79.1667 PCDH19 0 genome.wustl.edu 37 X 99662442 99662442 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 99662442 99662442 T G SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.1154 p.Q385P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 102 0 0 77 16 17.2043 SRPX2 0 genome.wustl.edu 37 X 99920638 99920638 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 99920638 99920638 C A SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known missense c.765 p.F255L 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 125 0 0 34 140 80.4598 USP9Y 0 genome.wustl.edu 37 Y 14898521 14898521 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 14898521 14898521 C A SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.3349 p.H1117N 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 37 0 0 13 41 75.9259 DDX3Y 0 genome.wustl.edu 37 Y 15026499 15026499 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 15026499 15026499 C A SNP DDX3Y ENST00000336079 human ensembl 74_37 +1 known missense c.697 p.L233I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3Y HGNC ENSG00000067048 53 0 0 24 35 59.322 NLGN4Y 0 genome.wustl.edu 37 Y 16941710 16941710 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 16941710 16941710 C T SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known silent c.1083 p.V361 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 48 0 0 9 33 78.5714 RBMY2FP 0 genome.wustl.edu 37 Y 24457560 24457560 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 24457560 24457560 G A SNP RBMY2FP ENST00000303922 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RBMY2FP HGNC ENSG00000243040 25 0 0 8 23 74.1935 ZFY 0 genome.wustl.edu 37 Y 2848017 2848017 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 2848017 2848017 G T SNP ZFY ENST00000155093 human ensembl 74_37 +1 known nonsense c.2389 p.E797* 1.000 pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFY HGNC ENSG00000067646 71 0 0 49 5 9.25926 TGIF2LY 0 genome.wustl.edu 37 Y 3447605 3447605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 3447605 3447605 G A SNP TGIF2LY ENST00000321217 human ensembl 74_37 +1 known missense c.320 p.R107H 0.952 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LY HGNC ENSG00000176679 139 0 0 31 75 70.7547 PRKY 0 genome.wustl.edu 37 Y 7239831 7239831 + RNA SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 Y 7239831 7239831 C T SNP PRKY ENST00000528056 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRKY HGNC ENSG00000099725 13 0 0 4 10 71.4286 SMYD2 0 genome.wustl.edu 37 1 214491450 214491451 + Frame_Shift_Ins INS - - C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 214491450 214491451 - C INS SMYD2 ENST00000366957 human ensembl 74_37 +1 known frame_shift_ins c.377_378 p.E126fs 1.000:0.999 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 165 0 0 105 78 42.623 OR2T4 0 genome.wustl.edu 37 1 248525681 248525681 + Frame_Shift_Del DEL A A - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 248525681 248525681 A - DEL OR2T4 ENST00000366475 human ensembl 74_37 +1 known frame_shift_del c.799 p.K268fs 0.001 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 OR2T4 HGNC ENSG00000196944 265 1 0.37594 175 67 27.686 ENSG00000237568 0 genome.wustl.edu 37 1 89735376 89735377 + RNA INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 1 89735376 89735377 - A INS ENSG00000237568 ENST00000437128 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.008 - - - no_errors RP4-620F22.2 Clone_based_vega_gene ENSG00000237568 21 0 0 14 5 26.3158 OR4P4 0 genome.wustl.edu 37 11 55406575 55406575 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55406575 55406575 T - DEL OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_del c.742 p.F249fs 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 139 0 0 109 41 27.3333 OR8I2 0 genome.wustl.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 11 55861308 55861308 T - DEL OR8I2 ENST00000302124 human ensembl 74_37 +1 known frame_shift_del c.525 p.C178fs 0.881 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 OR8I2 HGNC ENSG00000172154 221 1 0.45045 135 40 22.8571 ST8SIA1 0 genome.wustl.edu 37 12 22354446 22354447 + RNA INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 22354446 22354447 - A INS ST8SIA1 ENST00000545494 human ensembl 74_37 -1 known rna NULL NULL 0.998:1.000 - - - no_errors ST8SIA1 HGNC ENSG00000111728 135 0 0 79 34 30.0885 GLS2 0 genome.wustl.edu 37 12 56872893 56872895 + In_Frame_Del DEL CTC CTC - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 56872893 56872895 CTC - DEL GLS2 ENST00000311966 human ensembl 74_37 -1 known in_frame_del c.477_475 p.E159in_frame_del 1.000:1.000:1.000 superfamily_Beta-lactam/transpept-like pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 145 0 0 89 21 19.0909 LRRIQ1 0 genome.wustl.edu 37 12 85450183 85450184 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 12 85450183 85450184 - A INS LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_ins c.1612_1613 p.I540fs 0.133:0.101 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 62 0 0 82 25 23.3645 FAM155A 0 genome.wustl.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 108518338 108518338 C - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known frame_shift_del c.607 p.D203fs 0.252 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 216 0 0 120 35 22.5806 SLITRK1 0 genome.wustl.edu 37 13 84455509 84455509 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 13 84455509 84455509 T - DEL SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_del c.134 p.K45fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 145 0 0 98 39 28.4672 GJD2 0 genome.wustl.edu 37 15 35045244 35045244 + Frame_Shift_Del DEL C C - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 35045244 35045244 C - DEL GJD2 ENST00000290374 human ensembl 74_37 -1 known frame_shift_del c.401 p.G134fs 1.000 prints_Connexin36 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 262 1 0.380228 139 65 31.8627 DUOX2 0 genome.wustl.edu 37 15 45404761 45404761 + Frame_Shift_Del DEL C C - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 15 45404761 45404761 C - DEL DUOX2 ENST00000389039 human ensembl 74_37 -1 known frame_shift_del c.316 p.V106fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 78 0 0 53 14 20.8955 PRRT2 0 genome.wustl.edu 37 16 29825012 29825012 + Frame_Shift_Del DEL G G - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 16 29825012 29825012 G - DEL PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_del c.637 p.A214fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 46 0 0 17 5 22.7273 KAT7 0 genome.wustl.edu 37 17 47869397 47869398 + Splice_Site INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 17 47869397 47869398 - A INS KAT7 ENST00000259021 human ensembl 74_37 +1 known splice_site_ins c.163+2_163+1 e2+2 1.000:0.994 - - - no_errors KAT7 HGNC ENSG00000136504 84 0 0 31 11 26.1905 CXADRP3 0 genome.wustl.edu 37 18 14478662 14478662 + RNA DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 18 14478662 14478662 T - DEL CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.487 - - - no_errors CXADRP3 HGNC ENSG00000265766 57 0 0 39 19 32.7586 ROCK2 0 genome.wustl.edu 37 2 11347936 11347937 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 11347936 11347937 - T INS ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_ins c.2465_2464 p.M822fs 1.000:0.994 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 101 0 0 72 32 30.7692 TTN-AS1 0 genome.wustl.edu 37 2 179449717 179449717 + RNA DEL A A - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179449717 179449717 A - DEL TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 160 0 0 100 51 33.7748 TTN 0 genome.wustl.edu 37 2 179537380 179537381 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 179537380 179537381 - T INS TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_ins c.30934_30933 p.E10311fs 1.000:0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 31 0 0 23 11 32.3529 ANKRD36 0 genome.wustl.edu 37 2 97784210 97784211 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 97784210 97784211 - A INS ANKRD36 ENST00000420699 human ensembl 74_37 +1 known frame_shift_ins c.442_443 p.L150fs 0.007:0.005 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 96 0 0 79 11 12.2222 LYG2 0 genome.wustl.edu 37 2 99860495 99860496 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 2 99860495 99860496 - T INS LYG2 ENST00000333017 human ensembl 74_37 -1 known frame_shift_ins c.487_486 p.F162fs 1.000:0.992 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 111 0 0 71 21 22.8261 SDCBP2 0 genome.wustl.edu 37 20 1291527 1291528 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 20 1291527 1291528 - T INS SDCBP2 ENST00000339987 human ensembl 74_37 -1 known frame_shift_ins c.741_740 p.I248fs 0.607:0.840 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 57 0 0 32 9 21.9512 SYNPO2 0 genome.wustl.edu 37 4 119951703 119951704 + Frame_Shift_Ins INS - - TTCCCAG TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 119951703 119951704 - TTCCCAG INS SYNPO2 ENST00000307142 human ensembl 74_37 +1 known frame_shift_ins c.1773_1774 p.G593fs 0.990:1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 211 0 0 146 9 5.80645 ZNF718 0 genome.wustl.edu 37 4 154892 154893 + RNA INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 154892 154893 - A INS ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors ZNF718 HGNC ENSG00000250312 11 0 0 18 7 28 KLF3 0 genome.wustl.edu 37 4 38696436 38696437 + Frame_Shift_Ins INS - - AA TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 38696436 38696437 - AA INS KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_ins c.765_766 p.R256fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 159 0 0 90 42 31.8182 SHROOM3 0 genome.wustl.edu 37 4 77660178 77660179 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 4 77660178 77660179 - T INS SHROOM3 ENST00000296043 human ensembl 74_37 +1 known frame_shift_ins c.852_853 p.S284fs 0.885:0.983 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 86 0 0 42 16 27.5862 ZNF608 0 genome.wustl.edu 37 5 124080775 124080776 + RNA INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 124080775 124080776 - A INS ZNF608 ENST00000512940 human ensembl 74_37 -1 putative rna NULL NULL 0.885:0.996 - - - no_errors ZNF608 HGNC ENSG00000168916 23 0 0 8 5 38.4615 SLC38A9 0 genome.wustl.edu 37 5 54922327 54922328 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 5 54922327 54922328 - A INS SLC38A9 ENST00000318672 human ensembl 74_37 -1 known frame_shift_ins c.1681_1680 p.M560fs 1.000:0.998 NULL pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 152 0 0 101 44 30.3448 C6orf62 0 genome.wustl.edu 37 6 24714604 24714605 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 24714604 24714605 - T INS C6orf62 ENST00000378119 human ensembl 74_37 -1 known frame_shift_ins c.371_370 p.I124fs 1.000:1.000 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 110 0 0 91 28 23.5294 TDRD6 0 genome.wustl.edu 37 6 46660415 46660416 + Frame_Shift_Ins INS - - C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 6 46660415 46660416 - C INS TDRD6 ENST00000316081 human ensembl 74_37 +1 known frame_shift_ins c.4550_4551 p.E1517fs 0.009:0.002 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 79 0 0 70 33 32.0388 ZFHX4 0 genome.wustl.edu 37 8 77617928 77617929 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 77617928 77617929 - A INS ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_ins c.1605_1606 p.Q537fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 64 0 0 44 15 25.4237 SNORA72 0 genome.wustl.edu 37 8 99054840 99054841 + RNA INS - - AC TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 8 99054840 99054841 - AC INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.033:0.030 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 64 0 0 67 20 22.9885 ZMAT1 0 genome.wustl.edu 37 X 101138438 101138439 + RNA INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 101138438 101138439 - T INS ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 15 0 0 33 8 19.5122 MIR513A1 0 genome.wustl.edu 37 X 146295032 146295032 + RNA DEL A A - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 146295032 146295032 A - DEL MIR513A1 ENST00000385138 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR513A1 HGNC ENSG00000207873 60 0 0 73 43 37.069 AFF2 0 genome.wustl.edu 37 X 148059926 148059926 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 X 148059926 148059926 T - DEL AFF2 ENST00000370460 human ensembl 74_37 +1 known frame_shift_del c.3511 p.F1171fs 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 100 0 0 63 99 61.1111