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 ADCY6 112 genome.wustl.edu 37 12 49169780 49169780 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 49169780 49169780 G A SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known missense c.1772 p.S591F 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC AKNA 80709 genome.wustl.edu 37 9 117107283 117107283 + RNA SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 117107283 117107283 C G SNP AKNA ENST00000492875 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors AKNA HGNC ARID2 196528 genome.wustl.edu 37 12 46287285 46287285 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 46287285 46287285 C A SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.5230 p.L1744M 0.811 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ATP10D 57205 genome.wustl.edu 37 4 47584003 47584003 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 47584003 47584003 C T SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known silent c.3675 p.I1225 0.999 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ATP2B1 490 genome.wustl.edu 37 12 90003751 90003751 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 90003751 90003751 C A SNP ATP2B1 ENST00000261173 human ensembl 70_37 -1 known missense c.2405 p.G802V 1.000 pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ATP2B3 492 genome.wustl.edu 37 X 152815583 152815583 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 152815583 152815583 G A SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.1662 p.L554 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC BCKDHB 594 genome.wustl.edu 37 6 80881080 80881080 + Nonsense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 80881080 80881080 G T SNP BCKDHB ENST00000320393 human ensembl 70_37 +1 known nonsense c.715 p.E239* 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 BCKDHB HGNC BHLHE40-AS1 100507582 genome.wustl.edu 37 3 4940570 4940570 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 4940570 4940570 C A SNP BHLHE40-AS1 ENST00000438479 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors BHLHE40-AS1 HGNC C4orf21 55345 genome.wustl.edu 37 4 113508645 113508645 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 113508645 113508645 C A SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.3568 p.D1190Y 0.001 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC CACNA1B 774 genome.wustl.edu 37 9 140917674 140917674 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 140917674 140917674 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.2482 p.R828W 0.855 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CAMSAP2 23271 genome.wustl.edu 37 1 200730003 200730003 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 200730003 200730003 C A SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.176 p.T59K 0.994 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC CCDC59 29080 genome.wustl.edu 37 12 82750802 82750802 + Nonsense_Mutation SNP A A T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 82750802 82750802 A T SNP CCDC59 ENST00000256151 human ensembl 70_37 -1 known nonsense c.401 p.L134* 0.000 NULL pfam_rRNA_processing,prints_BR22 - no_errors CCDC59 HGNC CCDC93 54520 genome.wustl.edu 37 2 118709186 118709186 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 118709186 118709186 C T SNP CCDC93 ENST00000460781 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC93 HGNC CECR2 27443 genome.wustl.edu 37 22 17907428 17907428 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 17907428 17907428 G A SNP CECR2 ENST00000497534 human ensembl 70_37 +1 putative rna NULL NULL 0.283 - - - no_errors CECR2 HGNC CEP250 11190 genome.wustl.edu 37 20 34096011 34096011 + Missense_Mutation SNP T T A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 20 34096011 34096011 T A SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.6898 p.L2300M 0.974 NULL superfamily_Prefoldin - no_errors CEP250 HGNC CEP72 55722 genome.wustl.edu 37 5 644446 644446 + Missense_Mutation SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 644446 644446 G C SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known missense c.1572 p.L524F 1.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC CEPT1 10390 genome.wustl.edu 37 1 111721817 111721817 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 111721817 111721817 G T SNP CEPT1 ENST00000467362 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CEPT1 HGNC CHST13 166012 genome.wustl.edu 37 3 126261024 126261024 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 126261024 126261024 C T SNP CHST13 ENST00000319340 human ensembl 70_37 +1 known missense c.629 p.P210L 0.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC CNGA1 1259 genome.wustl.edu 37 4 47973119 47973120 + Splice_Site INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 47973119 47973120 - A INS CNGA1 ENST00000402813 human ensembl 70_37 -1 known splice_site_ins c.1-3_4 e1-2 0.002:0.019 - - - no_errors CNGA1 HGNC CNOT8 9337 genome.wustl.edu 37 5 154238369 154238369 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 154238369 154238369 G A SNP CNOT8 ENST00000518782 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CNOT8 HGNC CNTN1 1272 genome.wustl.edu 37 12 41419115 41419115 + Missense_Mutation SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 41419115 41419115 T C SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.2687 p.I896T 0.998 superfamily_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 - no_errors CNTN1 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 146818156 146818156 + Silent SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 146818156 146818156 C A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known silent c.840 p.V280 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,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 COL11A1 1301 genome.wustl.edu 37 1 103480147 103480147 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 103480147 103480147 G T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1528 p.R510S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL4A4 1286 genome.wustl.edu 37 2 228004878 228004878 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 228004878 228004878 C A SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known missense c.191 p.R64L 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC COLEC12 81035 genome.wustl.edu 37 18 346550 346550 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 346550 346550 G A SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1072 p.R358W 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 CREBZF 58487 genome.wustl.edu 37 11 85371271 85371271 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 85371271 85371271 C T SNP CREBZF ENST00000531515 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors CREBZF HGNC CRTC3 64784 genome.wustl.edu 37 15 91161147 91161147 + Missense_Mutation SNP A A G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 91161147 91161147 A G SNP CRTC3 ENST00000268184 human ensembl 70_37 +1 known missense c.646 p.N216D 1.000 NULL NULL - no_errors CRTC3 HGNC CXorf27 25763 genome.wustl.edu 37 X 37850383 37850383 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 37850383 37850383 C T SNP CXorf27 ENST00000341016 human ensembl 70_37 +1 known silent c.291 p.S97 0.000 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC DCTN5 84516 genome.wustl.edu 37 16 23678902 23678902 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 23678902 23678902 C T SNP DCTN5 ENST00000563614 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DCTN5 HGNC DDX27 55661 genome.wustl.edu 37 20 47839534 47839534 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 20 47839534 47839534 G A SNP DDX27 ENST00000371764 human ensembl 70_37 +1 known missense c.374 p.R125Q 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC DNER 92737 genome.wustl.edu 37 2 230282895 230282895 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 230282895 230282895 G A SNP DNER ENST00000341772 human ensembl 70_37 -1 known missense c.1538 p.P513L 0.999 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors DNER HGNC DPEP2 64174 genome.wustl.edu 37 16 68024864 68024864 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 68024864 68024864 C T SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.769 p.V257I 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC EHD1 10938 genome.wustl.edu 37 11 64622129 64622129 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 64622129 64622129 G A SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.1281 p.G427 0.443 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC EML6 400954 genome.wustl.edu 37 2 55054744 55054744 + Silent SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 55054744 55054744 G T SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel silent c.567 p.G189 0.528 superfamily_WD40_repeat_dom,smart_WD40_repeat,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 EML6 HGNC ENSG00000197210 0 genome.wustl.edu 37 22 21477651 21477651 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 21477651 21477651 C A SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000203335 0 genome.wustl.edu 37 7 153755823 153755823 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 153755823 153755823 G A SNP ENSG00000203335 ENST00000366161 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006019.3 Clone_based_vega_gene ENSG00000225166 0 genome.wustl.edu 37 2 216321685 216321685 + RNA SNP A A G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 216321685 216321685 A G SNP ENSG00000225166 ENST00000447835 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012462.2 Clone_based_vega_gene ENSG00000228216 0 genome.wustl.edu 37 9 93727554 93727554 + RNA SNP A A T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 93727554 93727554 A T SNP ENSG00000228216 ENST00000427745 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-367F23.1 Clone_based_vega_gene ENSG00000228560 0 genome.wustl.edu 37 1 159316121 159316121 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 159316121 159316121 G T SNP ENSG00000228560 ENST00000431862 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-550P17.5 Clone_based_vega_gene ENSG00000232412 0 genome.wustl.edu 37 X 123093241 123093241 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 123093241 123093241 C T SNP ENSG00000232412 ENST00000426367 human ensembl 70_37 -1 known rna NULL NULL 0.144 - - - no_errors RP1-315G1.3 Clone_based_vega_gene ENSG00000234210 0 genome.wustl.edu 37 7 157261102 157261102 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 157261102 157261102 G A SNP ENSG00000234210 ENST00000444158 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC006372.4 Clone_based_vega_gene ENSG00000244681 0 genome.wustl.edu 37 3 95382135 95382135 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 95382135 95382135 G A SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000248464 0 genome.wustl.edu 37 5 44413408 44413409 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 44413408 44413409 - A INS ENSG00000248464 ENST00000502457 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-473L15.2 Clone_based_vega_gene ENSG00000250235 0 genome.wustl.edu 37 4 157853151 157853151 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 157853151 157853151 G A SNP ENSG00000250235 ENST00000505116 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-612J15.2 Clone_based_vega_gene ENSG00000250903 0 genome.wustl.edu 37 6 2283981 2283981 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 2283981 2283981 C T SNP ENSG00000250903 ENST00000456943 human ensembl 70_37 +1 known rna NULL NULL 0.141 - - - no_errors RP1-80B9.2 Clone_based_vega_gene ENSG00000251049 0 genome.wustl.edu 37 4 58462540 58462540 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 58462540 58462540 C T SNP ENSG00000251049 ENST00000509641 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-685F15.1 Clone_based_vega_gene ENSG00000251093 0 genome.wustl.edu 37 5 90522623 90522623 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 90522623 90522623 G T SNP ENSG00000251093 ENST00000510153 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-414H23.3 Clone_based_vega_gene ENSG00000254226 0 genome.wustl.edu 37 5 151648399 151648399 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 151648399 151648399 G C SNP ENSG00000254226 ENST00000524295 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000254226 0 genome.wustl.edu 37 5 151648402 151648403 + RNA INS - - T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 151648402 151648403 - T INS ENSG00000254226 ENST00000524295 human ensembl 70_37 +1 known rna NULL NULL 0.019:0.020 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000255367 0 genome.wustl.edu 37 11 3529520 3529520 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 3529520 3529520 G A SNP ENSG00000255367 ENST00000527970 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102312095 102312095 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 102312095 102312095 G T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259847 0 genome.wustl.edu 37 16 65175954 65175954 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 65175954 65175954 G A SNP ENSG00000259847 ENST00000563754 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-95H3.1 Clone_based_vega_gene ENSG00000259953 0 genome.wustl.edu 37 9 114798147 114798147 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 114798147 114798147 C A SNP ENSG00000259953 ENST00000563249 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-4O1.2 Clone_based_vega_gene ENSG00000261020 0 genome.wustl.edu 37 17 21919380 21919380 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 21919380 21919380 C T SNP ENSG00000261020 ENST00000562182 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-744K17.1 Clone_based_vega_gene ENSG00000261037 0 genome.wustl.edu 37 5 6019249 6019249 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 6019249 6019249 G T SNP ENSG00000261037 ENST00000564741 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-471C19.1 Clone_based_vega_gene ENSG00000261544 0 genome.wustl.edu 37 15 66058980 66058980 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 66058980 66058980 G T SNP ENSG00000261544 ENST00000567396 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-16E23.3 Clone_based_vega_gene ENSG00000261552 0 genome.wustl.edu 37 16 29000537 29000537 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 29000537 29000537 G A SNP ENSG00000261552 ENST00000561471 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-264B17.5 Clone_based_vega_gene ENSG00000262873 0 genome.wustl.edu 37 17 78991807 78991807 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 78991807 78991807 G A SNP ENSG00000262873 ENST00000572036 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors CTD-2561B21.11 Clone_based_vega_gene ENSG00000264812 0 genome.wustl.edu 37 17 80358595 80358595 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 80358595 80358595 T C SNP ENSG00000264812 ENST00000579188 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP13-20L14.4 Clone_based_vega_gene ENSG00000266371 0 genome.wustl.edu 37 17 29464558 29464558 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 29464558 29464558 G C SNP ENSG00000266371 ENST00000584382 human ensembl 70_37 +1 known rna NULL NULL 0.238 - - - no_errors RP11-142O6.1 Clone_based_vega_gene ENSG00000268516 0 genome.wustl.edu 37 19 58769924 58769924 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 19 58769924 58769924 G C SNP ENSG00000268516 ENST00000597230 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-3138B18.5 Clone_based_vega_gene FADD 8772 genome.wustl.edu 37 11 70049620 70049620 + Nonsense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 70049620 70049620 G T SNP FADD ENST00000301838 human ensembl 70_37 +1 known nonsense c.55 p.E19* 0.280 pfam_DED,superfamily_DEATH-like,smart_DED,pirsf_FADD,pfscan_DED pfam_Death,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Death,pirsf_FADD,pfscan_Death,pfscan_DED - no_errors FADD HGNC FER1L4 80307 genome.wustl.edu 37 20 34173150 34173150 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 20 34173150 34173150 G A SNP FER1L4 ENST00000430275 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors FER1L4 HGNC FGFR2 2263 genome.wustl.edu 37 10 123246890 123246890 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 10 123246890 123246890 C T SNP FGFR2 ENST00000457416 human ensembl 70_37 -1 known missense c.2038 p.V680I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC FHL3 2275 genome.wustl.edu 37 1 38471151 38471151 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 38471151 38471151 G A SNP FHL3 ENST00000475084 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors FHL3 HGNC FTCD 10841 genome.wustl.edu 37 21 47570313 47570313 + Nonsense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 21 47570313 47570313 G A SNP FTCD ENST00000359679 human ensembl 70_37 -1 known nonsense c.763 p.R255* 0.999 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC GABRE 2564 genome.wustl.edu 37 X 151121844 151121844 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 151121844 151121844 C A SNP GABRE ENST00000483564 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GABRE HGNC GATA1 2623 genome.wustl.edu 37 X 48652558 48652558 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 48652558 48652558 C T SNP GATA1 ENST00000376670 human ensembl 70_37 +1 known missense c.1229 p.P410L 0.975 NULL pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC GDI1 2664 genome.wustl.edu 37 X 153670141 153670141 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 153670141 153670141 G T SNP GDI1 ENST00000447750 human ensembl 70_37 +1 known missense c.991 p.D331Y 1.000 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC GFRA3 2676 genome.wustl.edu 37 5 137599970 137599970 + Missense_Mutation SNP A A G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 137599970 137599970 A G SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known missense c.359 p.V120A 0.825 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC GOLGA3 2802 genome.wustl.edu 37 12 133378543 133378543 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 133378543 133378543 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.1610 p.R537Q 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC GOLGA6L2 283685 genome.wustl.edu 37 15 23685081 23685081 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 23685081 23685081 C T SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative silent c.2541 p.G847 0.000 NULL NULL - no_errors GOLGA6L2 HGNC GPX8 493869 genome.wustl.edu 37 5 54460615 54460615 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 54460615 54460615 G A SNP GPX8 ENST00000506123 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC HEPACAM 220296 genome.wustl.edu 37 11 124791168 124791168 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 124791168 124791168 G A SNP HEPACAM ENST00000298251 human ensembl 70_37 -1 known missense c.1117 p.R373W 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM HGNC HRNR 388697 genome.wustl.edu 37 1 152186490 152186490 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 152186490 152186490 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.7615 p.G2539S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HRNR 388697 genome.wustl.edu 37 1 152188964 152188964 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 152188964 152188964 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.5141 p.S1714N 0.006 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC KIAA1522 57648 genome.wustl.edu 37 1 33236208 33236208 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 33236208 33236208 C T SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known silent c.1428 p.L476 0.484 NULL NULL - no_errors KIAA1522 HGNC KLHL18 23276 genome.wustl.edu 37 3 47364191 47364191 + Nonsense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 47364191 47364191 C T SNP KLHL18 ENST00000232766 human ensembl 70_37 +1 known nonsense c.394 p.R132* 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,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 KRTAP10-6 386674 genome.wustl.edu 37 21 46011964 46011964 + Silent SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 21 46011964 46011964 T C SNP KRTAP10-6 ENST00000400368 human ensembl 70_37 -1 known silent c.402 p.S134 0.250 NULL NULL - no_errors KRTAP10-6 HGNC LCE2C 353140 genome.wustl.edu 37 1 152648817 152648817 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 152648817 152648817 G A SNP LCE2C ENST00000368783 human ensembl 70_37 +1 known missense c.326 p.C109Y 0.997 NULL NULL - no_errors LCE2C HGNC LEPREL1 55214 genome.wustl.edu 37 3 189705337 189705337 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 189705337 189705337 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known silent c.1077 p.P359 0.038 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC LIN9 286826 genome.wustl.edu 37 1 226455783 226455783 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 226455783 226455783 G A SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.739 p.R247C 1.000 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC LOC100133669 100133669 genome.wustl.edu 37 8 144090003 144090003 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 8 144090003 144090003 G A SNP LOC100133669 ENST00000502167 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors RP11-273G15.2 Clone_based_vega_gene LOC100133669 100133669 genome.wustl.edu 37 8 144090068 144090068 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 8 144090068 144090068 G C SNP LOC100133669 ENST00000502167 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors RP11-273G15.2 Clone_based_vega_gene LOC100287082 100287082 genome.wustl.edu 37 18 8695864 8695864 + RNA SNP A A C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 8695864 8695864 A C SNP LOC100287082 ENST00000579368 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-674N23.1 Clone_based_vega_gene LOC100287225 100287225 genome.wustl.edu 37 18 49088593 49088593 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 49088593 49088593 C T SNP LOC100287225 ENST00000435144 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-267C16.1 Clone_based_vega_gene LOC100506098 100506098 genome.wustl.edu 37 7 20261234 20261235 + RNA INS - - C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 20261234 20261235 - C INS LOC100506098 ENST00000430859 human ensembl 70_37 +1 known rna NULL NULL 0.884:0.855 - - - no_errors AC005083.1 Clone_based_vega_gene LOC100506874 100506874 genome.wustl.edu 37 15 85121556 85121557 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 85121556 85121557 - A INS LOC100506874 ENST00000557887 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.004 - - - no_errors RP11-182J1.9 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195393212 195393212 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 195393212 195393212 C T SNP LOC440993 ENST00000457233 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC069513.3 Clone_based_vega_gene LOC729603 729603 genome.wustl.edu 37 6 160516880 160516880 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 160516880 160516880 G A SNP LOC729603 ENST00000569097 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-288H12.3 Clone_based_vega_gene LOC729603 729603 genome.wustl.edu 37 6 160516957 160516957 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 160516957 160516957 G C SNP LOC729603 ENST00000569097 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-288H12.3 Clone_based_vega_gene LOXL1-AS1 100287616 genome.wustl.edu 37 15 74210676 74210676 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 74210676 74210676 T C SNP LOXL1-AS1 ENST00000564194 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LOXL1-AS1 HGNC LRIG1 26018 genome.wustl.edu 37 3 66431162 66431162 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 66431162 66431162 G T SNP LRIG1 ENST00000273261 human ensembl 70_37 -1 known missense c.2894 p.P965Q 0.003 NULL 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 - no_errors LRIG1 HGNC MAGEB1 4112 genome.wustl.edu 37 X 30268663 30268663 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 30268663 30268663 C T SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known missense c.53 p.A18V 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC MBTPS1 8720 genome.wustl.edu 37 16 84101352 84101352 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 84101352 84101352 G A SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known silent c.2148 p.N716 0.192 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC MEIS2 4212 genome.wustl.edu 37 15 37183275 37183275 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 37183275 37183275 T C SNP MEIS2 ENST00000560702 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MEIS2 HGNC MIR146B 574447 genome.wustl.edu 37 10 104196339 104196339 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 10 104196339 104196339 C T SNP MIR146B ENST00000365699 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors MIR146B HGNC MIR181A1 406995 genome.wustl.edu 37 1 198828217 198828218 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 198828217 198828218 - A INS MIR181A1 ENST00000385026 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR181A1 HGNC MIR5582 100847020 genome.wustl.edu 37 11 46774719 46774720 + RNA INS - - C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 46774719 46774720 - C INS MIR5582 ENST00000579697 human ensembl 70_37 -1 known rna NULL NULL 0.100:0.067 - - - no_errors MIR5582 HGNC MURC 347273 genome.wustl.edu 37 9 103348259 103348259 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 103348259 103348259 G T SNP MURC ENST00000307584 human ensembl 70_37 +1 known missense c.621 p.M207I 1.000 NULL NULL - no_errors MURC HGNC MYO7B 4648 genome.wustl.edu 37 2 128335752 128335752 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 128335752 128335752 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.894 p.Y298 0.304 pfam_Myosin_head_motor_dom,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_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 NBPF22P 285622 genome.wustl.edu 37 5 85589062 85589062 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 85589062 85589062 C T SNP NBPF22P ENST00000590707 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NBPF22P HGNC NEDD4L 23327 genome.wustl.edu 37 18 55981815 55981815 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 55981815 55981815 G A SNP NEDD4L ENST00000592601 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NEDD4L HGNC NFATC1 4772 genome.wustl.edu 37 18 77253552 77253552 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 77253552 77253552 G C SNP NFATC1 ENST00000590861 human ensembl 70_37 +1 putative rna NULL NULL 0.988 - - - no_errors NFATC1 HGNC NPL 80896 genome.wustl.edu 37 1 182791267 182791268 + Frame_Shift_Ins INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 182791267 182791268 - A INS NPL ENST00000258317 human ensembl 70_37 +1 known frame_shift_ins c.671_672 p.T227fs 1.000:0.993 pfam_Dihydrodipicolinate_synth-like pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC NPL 80896 genome.wustl.edu 37 1 182791267 182791268 + Frame_Shift_Ins INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 182791267 182791268 - A INS NPL ENST00000258317 human ensembl 70_37 +1 known frame_shift_ins c.671_672 p.T227fs 1.000:0.993 pfam_Dihydrodipicolinate_synth-like pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC OPCML 4978 genome.wustl.edu 37 11 132399032 132399032 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 132399032 132399032 C A SNP OPCML ENST00000541867 human ensembl 70_37 -1 known missense c.449 p.G150V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors OPCML HGNC OR5M3 219482 genome.wustl.edu 37 11 56237174 56237174 + Missense_Mutation SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 56237174 56237174 T C SNP OR5M3 ENST00000312240 human ensembl 70_37 -1 known missense c.800 p.E267G 0.017 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC OR6N2 81442 genome.wustl.edu 37 1 158747044 158747044 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 158747044 158747044 G A SNP OR6N2 ENST00000339258 human ensembl 70_37 -1 known missense c.382 p.R128W 0.236 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC PAN3-AS1 100288730 genome.wustl.edu 37 13 28710999 28711000 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 13 28710999 28711000 - A INS PAN3-AS1 ENST00000563843 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.039 - - - no_errors PAN3-AS1 HGNC PANX2 56666 genome.wustl.edu 37 22 50615969 50615969 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 50615969 50615969 C T SNP PANX2 ENST00000395842 human ensembl 70_37 +1 known silent c.828 p.R276 0.987 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC PCDH18 54510 genome.wustl.edu 37 4 138451499 138451499 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 138451499 138451499 G A SNP PCDH18 ENST00000344876 human ensembl 70_37 -1 known missense c.1744 p.R582C 0.988 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC PCP4 5121 genome.wustl.edu 37 21 41255441 41255441 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 21 41255441 41255441 C T SNP PCP4 ENST00000468717 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PCP4 HGNC PDE3A 5139 genome.wustl.edu 37 12 20522788 20522788 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 20522788 20522788 C T SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known silent c.570 p.A190 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PDE3A 5139 genome.wustl.edu 37 12 20522788 20522788 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 20522788 20522788 C T SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known silent c.570 p.A190 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PIP4K2C 79837 genome.wustl.edu 37 12 57985144 57985144 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 57985144 57985144 C T SNP PIP4K2C ENST00000354947 human ensembl 70_37 +1 known silent c.72 p.F24 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC PPP1R17 10842 genome.wustl.edu 37 7 31746967 31746967 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 31746967 31746967 G A SNP PPP1R17 ENST00000498609 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors PPP1R17 HGNC PRRT4 401399 genome.wustl.edu 37 7 127990931 127990931 + Silent SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 127990931 127990931 G T SNP PRRT4 ENST00000446477 human ensembl 70_37 -1 known silent c.2679 p.G893 1.000 NULL NULL - no_errors PRRT4 HGNC RANBP10 57610 genome.wustl.edu 37 16 67763658 67763658 + Missense_Mutation SNP A A T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 67763658 67763658 A T SNP RANBP10 ENST00000317506 human ensembl 70_37 -1 known missense c.1072 p.S358T 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC RBM26 64062 genome.wustl.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 13 79918806 79918807 - T INS RBM26 ENST00000327303 human ensembl 70_37 -1 known frame_shift_ins c.2182_2181 p.Q727fs 1.000:1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC RBM6 10180 genome.wustl.edu 37 3 50006066 50006066 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 50006066 50006066 G T SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.1208 p.S403I 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 RPS6 6194 genome.wustl.edu 37 9 19376658 19376658 + RNA SNP T T G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 19376658 19376658 T G SNP RPS6 ENST00000498815 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS6 HGNC RYR2 6262 genome.wustl.edu 37 1 237957284 237957284 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 237957284 237957284 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.13918 p.V4640I 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_2,pfscan_MIR_motif - no_errors RYR2 HGNC SDHAP1 255812 genome.wustl.edu 37 3 195711042 195711042 + RNA SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 195711042 195711042 C G SNP SDHAP1 ENST00000413474 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SDHAP1 HGNC SFRP4 6424 genome.wustl.edu 37 7 37956057 37956057 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 37956057 37956057 C T SNP SFRP4 ENST00000436072 human ensembl 70_37 -1 known missense c.83 p.R28H 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom 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 SLC8A1 6546 genome.wustl.edu 37 2 40405622 40405622 + Nonsense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 40405622 40405622 G T SNP SLC8A1 ENST00000332839 human ensembl 70_37 -1 known nonsense c.1820 p.S607* 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC SLC9C1 285335 genome.wustl.edu 37 3 111983170 111983170 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 111983170 111983170 C T SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.899 p.R300H 0.972 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC SMAD5 4090 genome.wustl.edu 37 5 135515156 135515157 + RNA INS - - AA TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 135515156 135515157 - AA INS SMAD5 ENST00000514641 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SMAD5 HGNC SPEN 23013 genome.wustl.edu 37 1 16255855 16255855 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 16255855 16255855 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.3120 p.V1040 0.014 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SRRM4 84530 genome.wustl.edu 37 12 119592176 119592176 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 119592176 119592176 G A SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known missense c.1520 p.R507Q 1.000 NULL NULL - no_errors SRRM4 HGNC SULT1E1 6783 genome.wustl.edu 37 4 70715163 70715163 + Missense_Mutation SNP T T G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 70715163 70715163 T G SNP SULT1E1 ENST00000226444 human ensembl 70_37 -1 known missense c.488 p.Q163P 0.978 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1E1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152716766 152716766 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 152716766 152716766 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7597 p.E2533K 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC THEM6 51337 genome.wustl.edu 37 8 143816856 143816856 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 8 143816856 143816856 G A SNP THEM6 ENST00000336138 human ensembl 70_37 +1 known silent c.626 p.*209 0.992 NULL NULL - no_errors THEM6 HGNC TOM1 10043 genome.wustl.edu 37 22 35726358 35726358 + Missense_Mutation SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 35726358 35726358 C G SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known missense c.784 p.R262G 0.988 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC TP73-AS1 57212 genome.wustl.edu 37 1 3656076 3656076 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 3656076 3656076 T C SNP TP73-AS1 ENST00000452079 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TP73-AS1 HGNC TPSB2 64499 genome.wustl.edu 37 16 1277336 1277336 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 1277336 1277336 G A SNP TPSB2 ENST00000339687 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TPSB2 HGNC TRIM16 10626 genome.wustl.edu 37 17 15534963 15534963 + Missense_Mutation SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 15534963 15534963 C G SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known missense c.1081 p.E361Q 0.989 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC UPB1 51733 genome.wustl.edu 37 22 24923769 24923769 + RNA SNP T T A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 24923769 24923769 T A SNP UPB1 ENST00000498140 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UPB1 HGNC XIRP2 129446 genome.wustl.edu 37 2 168115174 168115174 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 168115174 168115174 G T SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.2217 p.K739N 0.990 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ZBTB4 57659 genome.wustl.edu 37 17 7365772 7365772 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 7365772 7365772 C A SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known missense c.2529 p.E843D 0.002 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 ZBTB4 HGNC ZNF684 127396 genome.wustl.edu 37 1 41010164 41010164 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 41010164 41010164 C A SNP ZNF684 ENST00000372697 human ensembl 70_37 +1 known missense c.334 p.Q112K 0.073 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ZNF717 100131827 genome.wustl.edu 37 3 75759465 75759465 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 75759465 75759465 C T SNP ZNF717 ENST00000491507 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors ZNF717 HGNC ZNF775 285971 genome.wustl.edu 37 7 150095001 150095001 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 150095001 150095001 G A SNP ZNF775 ENST00000329630 human ensembl 70_37 +1 known missense c.1432 p.E478K 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ZSWIM5 57643 genome.wustl.edu 37 1 45484400 45484400 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 45484400 45484400 C T SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known missense c.3284 p.R1095Q 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC