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 ABCA12 26154 genome.wustl.edu 37 2 215890462 215890463 + Frame_Shift_Ins INS - - T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 215890462 215890463 - T INS ABCA12 ENST00000272895 human ensembl 70_37 -1 known frame_shift_ins c.1222_1221 p.S407fs 0.999:1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ADAMTS3 9508 genome.wustl.edu 37 4 73176775 73176775 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 73176775 73176775 C T SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.2045 p.G682E 1.000 prints_Peptidase_M12B_ADAM-TS 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_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150522694 150522694 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150522694 150522694 G A SNP ADAMTSL4 ENST00000483335 human ensembl 70_37 +1 known rna NULL NULL 0.847 - - - no_errors ADAMTSL4 HGNC ADD1 118 genome.wustl.edu 37 4 2877717 2877717 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 2877717 2877717 C T SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known silent c.75 p.F25 0.740 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC AHNAK 79026 genome.wustl.edu 37 11 62289474 62289474 + Missense_Mutation SNP T T G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 62289474 62289474 T G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.12415 p.K4139Q 0.920 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ANKRD17 26057 genome.wustl.edu 37 4 73956516 73956516 + Nonsense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 73956516 73956516 G A SNP ANKRD17 ENST00000358602 human ensembl 70_37 -1 known nonsense c.6829 p.Q2277* 1.000 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 ANKS1B 56899 genome.wustl.edu 37 12 99166870 99166870 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 99166870 99166870 C G SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known missense c.3454 p.D1152H 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC AP2A2 161 genome.wustl.edu 37 11 959489 959489 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 959489 959489 C G SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.120 p.I40M 0.995 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,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_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC AP3B1 8546 genome.wustl.edu 37 5 77423876 77423876 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 77423876 77423876 C T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.1946 p.R649Q 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ARFIP2 23647 genome.wustl.edu 37 11 6498387 6498387 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 6498387 6498387 G A SNP ARFIP2 ENST00000254584 human ensembl 70_37 -1 known missense c.982 p.R328W 1.000 NULL pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156916522 156916522 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 156916522 156916522 G C SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.2626 p.Q876E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155917026 155917026 + RNA SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 155917026 155917026 G C SNP ARHGEF2 ENST00000470541 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARHGEF2 HGNC ARRDC3 57561 genome.wustl.edu 37 5 90671370 90671370 + Frame_Shift_Del DEL T T - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 90671370 90671370 T - DEL ARRDC3 ENST00000265138 human ensembl 70_37 -1 known frame_shift_del c.571 p.I191fs 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ATP2B3 492 genome.wustl.edu 37 X 152825250 152825250 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 152825250 152825250 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known missense c.2689 p.L897V 0.998 pfam_ATPase_P-typ_cation-transptr_C,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 ATP4A 495 genome.wustl.edu 37 19 36054415 36054415 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 36054415 36054415 G C SNP ATP4A ENST00000262623 human ensembl 70_37 -1 known silent c.27 p.L9 0.836 pfam_ATPase_P-typ_H/K-transp_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC DPH6 89978 genome.wustl.edu 37 15 35834625 35834625 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 35834625 35834625 G T SNP ATPBD4 ENST00000256538 human ensembl 70_37 -1 known missense c.107 p.A36D 1.000 pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom - no_errors ATPBD4 HGNC ATRX 546 genome.wustl.edu 37 X 76874434 76874434 + Missense_Mutation SNP T T A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 76874434 76874434 T A SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.5288 p.N1763I 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC BBS9 27241 genome.wustl.edu 37 7 33545330 33545330 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 33545330 33545330 G A SNP BBS9 ENST00000489708 human ensembl 70_37 +1 putative rna NULL NULL 0.130 - - - no_errors BBS9 HGNC C11orf84 144097 genome.wustl.edu 37 11 63586438 63586438 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 63586438 63586438 G A SNP C11orf84 ENST00000294244 human ensembl 70_37 +1 known missense c.898 p.E300K 0.000 NULL NULL - no_errors C11orf84 HGNC C7orf65 401335 genome.wustl.edu 37 7 47698599 47698599 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 47698599 47698599 C G SNP C7orf65 ENST00000408988 human ensembl 70_37 +1 putative missense c.229 p.L77V 0.012 NULL NULL - no_errors C7orf65 HGNC C9orf84 158401 genome.wustl.edu 37 9 114508574 114508574 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 114508574 114508574 G C SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known missense c.827 p.S276C 0.006 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC CAD 790 genome.wustl.edu 37 2 27447715 27447715 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 27447715 27447715 C G SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.1357 p.L453V 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,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_fold,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 CAMSAP3 57662 genome.wustl.edu 37 19 7678011 7678011 + Nonsense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 7678011 7678011 G T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known nonsense c.2713 p.E905* 0.915 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC CC2D2A 57545 genome.wustl.edu 37 4 15482840 15482840 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 15482840 15482840 G C SNP CC2D2A ENST00000507954 human ensembl 70_37 +1 putative missense c.267 p.K89N 0.077 NULL NULL - no_errors CC2D2A HGNC CCDC77 84318 genome.wustl.edu 37 12 547595 547595 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 547595 547595 G A SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 NULL NULL - no_errors CCDC77 HGNC CCNC 892 genome.wustl.edu 37 6 100006296 100006296 + Frame_Shift_Del DEL A A - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 100006296 100006296 A - DEL CCNC ENST00000482541 human ensembl 70_37 -1 putative frame_shift_del c.423 p.F141fs 0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC CD101 9398 genome.wustl.edu 37 1 117544453 117544453 + Nonsense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 117544453 117544453 C G SNP CD101 ENST00000256652 human ensembl 70_37 +1 known nonsense c.14 p.S5* 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC CDK10 8558 genome.wustl.edu 37 16 89756984 89756984 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 89756984 89756984 G C SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.184 p.D62H 0.971 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK10 HGNC CEP63 80254 genome.wustl.edu 37 3 134256086 134256086 + Silent SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 134256086 134256086 G T SNP CEP63 ENST00000337090 human ensembl 70_37 +1 known silent c.531 p.L177 1.000 NULL NULL - no_errors CEP63 HGNC CERS2 29956 genome.wustl.edu 37 1 150936958 150936958 + RNA SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150936958 150936958 G C SNP CERS2 ENST00000482825 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors CERS2 HGNC CERS2 29956 genome.wustl.edu 37 1 150939634 150939634 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150939634 150939634 G A SNP CERS2 ENST00000271688 human ensembl 70_37 -1 known silent c.657 p.L219 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC CERS2 29956 genome.wustl.edu 37 1 150939640 150939640 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150939640 150939640 G A SNP CERS2 ENST00000271688 human ensembl 70_37 -1 known silent c.651 p.I217 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC CHD4 1108 genome.wustl.edu 37 12 6690291 6690291 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 6690291 6690291 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.4912 p.E1638K 0.124 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,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 CHD8 57680 genome.wustl.edu 37 14 21899634 21899634 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 21899634 21899634 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.169 p.D57N 0.989 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CIB4 130106 genome.wustl.edu 37 2 26804232 26804232 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 26804232 26804232 C T SNP CIB4 ENST00000288861 human ensembl 70_37 -1 known silent c.557 p.*186 0.684 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16360323 16360323 + RNA SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 16360323 16360323 G T SNP CLCNKA ENST00000464764 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CLCNKA HGNC CLDN16 10686 genome.wustl.edu 37 3 190105955 190105955 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 190105955 190105955 C G SNP CLDN16 ENST00000264734 human ensembl 70_37 +1 known missense c.47 p.S16C 0.043 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC CTSD 1509 genome.wustl.edu 37 11 1774826 1774826 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 1774826 1774826 G C SNP CTSD ENST00000236671 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSD HGNC CUL9 23113 genome.wustl.edu 37 6 43182816 43182816 + Splice_Site SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 43182816 43182816 G T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known splice_site c.5689-1 e29-1 1.000 - - - no_errors CUL9 HGNC CUX1 1523 genome.wustl.edu 37 7 101813778 101813778 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 101813778 101813778 C T SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known missense c.809 p.S270L 0.876 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CYB5B 80777 genome.wustl.edu 37 16 69481063 69481063 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 69481063 69481063 G T SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known missense c.185 p.G62V 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC CYB5B 80777 genome.wustl.edu 37 16 69481080 69481080 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 69481080 69481080 G A SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known missense c.202 p.E68K 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC CYP4F11 57834 genome.wustl.edu 37 19 16033213 16033213 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 16033213 16033213 C T SNP CYP4F11 ENST00000248041 human ensembl 70_37 -1 known missense c.946 p.E316K 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 CYP4F11 HGNC DACT2 168002 genome.wustl.edu 37 6 168708148 168708148 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 168708148 168708148 G A SNP DACT2 ENST00000366795 human ensembl 70_37 -1 known silent c.2289 p.F763 1.000 NULL NULL - no_errors DACT2 HGNC DDRGK1 65992 genome.wustl.edu 37 20 3185217 3185217 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 3185217 3185217 G C SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known silent c.57 p.L19 0.630 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC DGKA 1606 genome.wustl.edu 37 12 56347184 56347184 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 56347184 56347184 C T SNP DGKA ENST00000331886 human ensembl 70_37 +1 known missense c.2114 p.T705M 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC DOCK8 81704 genome.wustl.edu 37 9 405010 405010 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 405010 405010 G A SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known silent c.3327 p.L1109 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DRD2 1813 genome.wustl.edu 37 11 113283564 113283564 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 113283564 113283564 G C SNP DRD2 ENST00000355319 human ensembl 70_37 -1 known silent c.858 p.L286 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC DTX3L 151636 genome.wustl.edu 37 3 122288386 122288386 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 122288386 122288386 G T SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.1450 p.V484L 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000180913 0 genome.wustl.edu 37 11 6150204 6150204 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 6150204 6150204 G C SNP ENSG00000180913 ENST00000316517 human ensembl 70_37 +1 known missense c.365 p.R122T 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 - no_errors AC111177.1 Clone_based_ensembl_gene ENSG00000181464 0 genome.wustl.edu 37 17 15468963 15468963 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 15468963 15468963 G C SNP ENSG00000181464 ENST00000312127 human ensembl 70_37 -1 known missense c.616 p.P206A 0.016 NULL NULL - no_errors CDRT1 Uniprot_genename ENSG00000225119 0 genome.wustl.edu 37 10 38737408 38737408 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 38737408 38737408 C G SNP ENSG00000225119 ENST00000447412 human ensembl 70_37 +1 known rna NULL NULL 0.961 - - - no_errors RP11-291L22.3 Clone_based_vega_gene ENSG00000225119 0 genome.wustl.edu 37 10 38737434 38737434 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 38737434 38737434 C G SNP ENSG00000225119 ENST00000447412 human ensembl 70_37 +1 known rna NULL NULL 0.961 - - - no_errors RP11-291L22.3 Clone_based_vega_gene ENSG00000227053 0 genome.wustl.edu 37 7 100660835 100660835 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 100660835 100660835 C T SNP ENSG00000227053 ENST00000441882 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-395B7.4 Clone_based_vega_gene ENSG00000231183 0 genome.wustl.edu 37 7 76532184 76532184 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 76532184 76532184 C T SNP ENSG00000231183 ENST00000472463 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000233177 0 genome.wustl.edu 37 10 121333127 121333127 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 121333127 121333127 C G SNP ENSG00000233177 ENST00000448423 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-179H18.2 Clone_based_vega_gene ENSG00000235121 0 genome.wustl.edu 37 1 201693808 201693808 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 201693808 201693808 C G SNP ENSG00000235121 ENST00000429443 human ensembl 70_37 -1 known rna NULL NULL 0.121 - - - no_errors RP11-90L20.2 Clone_based_vega_gene ENSG00000238009 0 genome.wustl.edu 37 1 133436 133436 + RNA SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 133436 133436 G C SNP ENSG00000238009 ENST00000453576 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-34P13.7 Clone_based_vega_gene ENSG00000242962 0 genome.wustl.edu 37 15 23443813 23443813 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 23443813 23443813 C T SNP ENSG00000242962 ENST00000488468 human ensembl 70_37 +1 novel rna NULL NULL 0.009 - - - no_errors Metazoa_SRP RFAM ENSG00000254921 0 genome.wustl.edu 37 11 8061147 8061147 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 8061147 8061147 G A SNP ENSG00000254921 ENST00000526646 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-236J17.6 Clone_based_vega_gene ENSG00000258428 0 genome.wustl.edu 37 14 57114462 57114462 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 57114462 57114462 C G SNP ENSG00000258428 ENST00000553800 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1085N6.2 Clone_based_vega_gene ENSG00000268657 0 genome.wustl.edu 37 14 92040832 92040832 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 92040832 92040832 C G SNP ENSG00000268657 ENST00000596306 human ensembl 70_37 -1 known missense c.125 p.R42P 0.000 NULL NULL - no_errors AL133373.1 Clone_based_ensembl_gene ENSG00000269583 0 genome.wustl.edu 37 19 44079628 44079628 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 44079628 44079628 C T SNP ENSG00000269583 ENST00000600242 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors L34079.4 Clone_based_vega_gene EPHA3 2042 genome.wustl.edu 37 3 89468499 89468499 + Missense_Mutation SNP A A C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 89468499 89468499 A C SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.2033 p.D678A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_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,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_cat_dom - no_errors EPHA3 HGNC ERP27 121506 genome.wustl.edu 37 12 15068652 15068652 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 15068652 15068652 C G SNP ERP27 ENST00000544881 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ERP27 HGNC ETV2 2116 genome.wustl.edu 37 19 36133941 36133941 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 36133941 36133941 G A SNP ETV2 ENST00000402764 human ensembl 70_37 +1 known missense c.229 p.G77R 0.913 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV2 HGNC FAM98A 25940 genome.wustl.edu 37 2 33820590 33820590 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 33820590 33820590 G A SNP FAM98A ENST00000238823 human ensembl 70_37 -1 known silent c.168 p.L56 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC FBXW7 55294 genome.wustl.edu 37 4 153247367 153247367 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 153247367 153247367 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1435 p.R479G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FMO1 2326 genome.wustl.edu 37 1 171244628 171244628 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 171244628 171244628 G C SNP FMO1 ENST00000354841 human ensembl 70_37 +1 known missense c.465 p.L155F 1.000 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_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC FMO6P 388714 genome.wustl.edu 37 1 171121215 171121215 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 171121215 171121215 G C SNP FMO6P ENST00000236166 human ensembl 70_37 +1 novel missense c.994 p.D332H 0.069 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_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO6P HGNC GBP7 388646 genome.wustl.edu 37 1 89618015 89618015 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 89618015 89618015 C G SNP GBP7 ENST00000294671 human ensembl 70_37 -1 known silent c.561 p.L187 0.995 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC GCG 2641 genome.wustl.edu 37 2 163005610 163005610 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 163005610 163005610 C T SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC GCKR 2646 genome.wustl.edu 37 2 27726397 27726397 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 27726397 27726397 G C SNP GCKR ENST00000264717 human ensembl 70_37 +1 known missense c.661 p.D221H 1.000 NULL NULL - no_errors GCKR HGNC GEN1 348654 genome.wustl.edu 37 2 17962884 17962884 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 17962884 17962884 C G SNP GEN1 ENST00000317402 human ensembl 70_37 +1 known missense c.2405 p.S802C 1.000 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC GMIP 51291 genome.wustl.edu 37 19 19746372 19746372 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 19746372 19746372 C G SNP GMIP ENST00000203556 human ensembl 70_37 -1 known missense c.1412 p.G471A 0.908 NULL pfam_RhoGAP_dom,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 GMIP HGNC GREB1 9687 genome.wustl.edu 37 2 11778841 11778841 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 11778841 11778841 C G SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known missense c.5592 p.I1864M 1.000 NULL NULL - no_errors GREB1 HGNC GRM7 2917 genome.wustl.edu 37 3 7188329 7188329 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 7188329 7188329 C T SNP GRM7 ENST00000402647 human ensembl 70_37 +1 known missense c.710 p.S237F 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,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 GTPBP4 23560 genome.wustl.edu 37 10 1061781 1061781 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 1061781 1061781 G A SNP GTPBP4 ENST00000360803 human ensembl 70_37 +1 known missense c.1697 p.R566Q 1.000 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC GUCY1A3 2982 genome.wustl.edu 37 4 156643280 156643280 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 156643280 156643280 C T SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known silent c.1807 p.L603 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase 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 GUCY2F 2986 genome.wustl.edu 37 X 108696910 108696910 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 108696910 108696910 G A SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1211 p.S404L 0.988 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,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_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC HDAC6 10013 genome.wustl.edu 37 X 48661072 48661072 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 48661072 48661072 C T SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known silent c.15 p.N5 0.000 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC HDDC2 51020 genome.wustl.edu 37 6 125621802 125621803 + Frame_Shift_Del DEL CT CT - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 125621802 125621803 CT - DEL HDDC2 ENST00000398153 human ensembl 70_37 -1 known frame_shift_del c.88_87 p.R29fs 1.000:0.998 NULL pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC HDHD1 8226 genome.wustl.edu 37 X 7023850 7023850 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 7023850 7023850 G C SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known missense c.160 p.Q54E 0.992 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC HEATR1 55127 genome.wustl.edu 37 1 236724550 236724550 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 236724550 236724550 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.4621 p.E1541K 0.644 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HELZ2 85441 genome.wustl.edu 37 20 62203254 62203254 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 62203254 62203254 C G SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HELZ2 HGNC HELZ2 85441 genome.wustl.edu 37 20 62203573 62203573 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 62203573 62203573 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.166 p.E56K 0.994 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HERC1 8925 genome.wustl.edu 37 15 64005673 64005673 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 64005673 64005673 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.4342 p.R1448W 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,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 HFM1 164045 genome.wustl.edu 37 1 91790314 91790314 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 91790314 91790314 C T SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.2345 p.R782K 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HIAT1 64645 genome.wustl.edu 37 1 100534090 100534090 + Missense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 100534090 100534090 C A SNP HIAT1 ENST00000370152 human ensembl 70_37 +1 known missense c.767 p.S256Y 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 HIF1A 3091 genome.wustl.edu 37 14 62188340 62188340 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 62188340 62188340 G C SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.412 p.D138H 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC HLA-A 3105 genome.wustl.edu 37 6 29911899 29911900 + Frame_Shift_Ins INS - - C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 29911899 29911900 - C INS HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_ins c.620_621 p.K210fs 0.903:0.000 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HPD 3242 genome.wustl.edu 37 12 122277702 122277702 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 122277702 122277702 C G SNP HPD ENST00000289004 human ensembl 70_37 -1 known missense c.1114 p.E372Q 1.000 pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC IGSF9B 22997 genome.wustl.edu 37 11 133807325 133807325 + Nonsense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 133807325 133807325 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known nonsense c.625 p.R209* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like 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 - no_errors IGSF9B HGNC INPP4B 8821 genome.wustl.edu 37 4 142950044 142950044 + Missense_Mutation SNP A A G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 142950044 142950044 A G SNP INPP4B ENST00000262992 human ensembl 70_37 -1 known missense c.2666 p.V889A 0.999 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC IRS1 3667 genome.wustl.edu 37 2 227662668 227662668 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 227662668 227662668 C T SNP IRS1 ENST00000305123 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS1 HGNC IRS1 3667 genome.wustl.edu 37 2 227662864 227662864 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 227662864 227662864 C T SNP IRS1 ENST00000305123 human ensembl 70_37 -1 known silent c.591 p.L197 0.992 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS1 HGNC KCTD4 386618 genome.wustl.edu 37 13 45768493 45768493 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 13 45768493 45768493 C T SNP KCTD4 ENST00000379108 human ensembl 70_37 -1 known silent c.210 p.P70 0.831 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC KDM1B 221656 genome.wustl.edu 37 6 18212785 18212785 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 18212785 18212785 G A SNP KDM1B ENST00000388870 human ensembl 70_37 +1 known missense c.1936 p.E646K 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC KDM2A 22992 genome.wustl.edu 37 11 66975046 66975046 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 66975046 66975046 C T SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known nonsense c.373 p.Q125* 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KIAA0556 23247 genome.wustl.edu 37 16 27659991 27659991 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 27659991 27659991 G C SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.475 p.D159H 0.999 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KIAA1731 85459 genome.wustl.edu 37 11 93461963 93461963 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 93461963 93461963 G C SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.7278 p.E2426D 0.000 NULL NULL - no_errors KIAA1731 HGNC KIAA1919 91749 genome.wustl.edu 37 6 111588064 111588064 + Silent SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 111588064 111588064 G T SNP KIAA1919 ENST00000368847 human ensembl 70_37 +1 known silent c.1299 p.G433 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC KLHL29 114818 genome.wustl.edu 37 2 23919346 23919346 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 23919346 23919346 G A SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known missense c.2068 p.G690R 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC LDHD 197257 genome.wustl.edu 37 16 75148489 75148489 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 75148489 75148489 G C SNP LDHD ENST00000300051 human ensembl 70_37 -1 known silent c.564 p.L188 0.128 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC LOC101060424 101060424 genome.wustl.edu 37 16 22558146 22558146 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 22558146 22558146 C T SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-368J21.3 Clone_based_vega_gene LOC284009 284009 genome.wustl.edu 37 17 2310431 2310431 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 2310431 2310431 G A SNP LOC284009 ENST00000381977 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-59D14.3 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195415466 195415466 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 195415466 195415466 C T SNP LOC440993 ENST00000420851 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AC069513.3 Clone_based_vega_gene LOC728643 728643 genome.wustl.edu 37 16 51679714 51679714 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 51679714 51679714 C T SNP LOC728643 ENST00000562726 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-2119F7.2 Clone_based_vega_gene LOC729461 729461 genome.wustl.edu 37 22 20640910 20640910 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 20640910 20640910 C T SNP LOC729461 ENST00000428139 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors AC011718.2 Clone_based_vega_gene LONRF2 164832 genome.wustl.edu 37 2 100906845 100906845 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 100906845 100906845 C T SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.1795 p.V599M 0.178 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC LRFN1 57622 genome.wustl.edu 37 19 39804698 39804698 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 39804698 39804698 G A SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.1279 p.R427W 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 - no_errors LRFN1 HGNC LRRC3C 100505591 genome.wustl.edu 37 17 38100984 38100984 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 38100984 38100984 C G SNP LRRC3C ENST00000377924 human ensembl 70_37 +1 known silent c.825 p.V275 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3C HGNC LRRC41 10489 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC LRRC8E 80131 genome.wustl.edu 37 19 7963642 7963642 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 7963642 7963642 G A SNP LRRC8E ENST00000306708 human ensembl 70_37 +1 known missense c.235 p.E79K 0.015 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC MACC1 346389 genome.wustl.edu 37 7 20193845 20193845 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 20193845 20193845 G C SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known missense c.2317 p.R773G 0.648 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC MCM10 55388 genome.wustl.edu 37 10 13217641 13217641 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 13217641 13217641 C G SNP MCM10 ENST00000361282 human ensembl 70_37 +1 known missense c.727 p.Q243E 0.005 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC MCM3AP 8888 genome.wustl.edu 37 21 47700456 47700456 + Missense_Mutation SNP T T G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 21 47700456 47700456 T G SNP MCM3AP ENST00000291688 human ensembl 70_37 -1 known missense c.1477 p.S493R 0.038 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ME2 4200 genome.wustl.edu 37 18 48450510 48450510 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 18 48450510 48450510 C T SNP ME2 ENST00000321341 human ensembl 70_37 +1 known missense c.1099 p.H367Y 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC MED23 9439 genome.wustl.edu 37 6 131912530 131912530 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 131912530 131912530 C T SNP MED23 ENST00000368058 human ensembl 70_37 -1 known missense c.3627 p.M1209I 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC MED24 9862 genome.wustl.edu 37 17 38192033 38192033 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 38192033 38192033 G A SNP MED24 ENST00000394128 human ensembl 70_37 -1 known missense c.268 p.R90W 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC KMT2E 55904 genome.wustl.edu 37 7 104753289 104753289 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 104753289 104753289 C G SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.5086 p.P1696A 0.901 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 MLL5 HGNC MLLT6 4302 genome.wustl.edu 37 17 36863784 36863784 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 36863784 36863784 G C SNP MLLT6 ENST00000325718 human ensembl 70_37 +1 known missense c.235 p.D79H 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC MNT 4335 genome.wustl.edu 37 17 2298236 2298236 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 2298236 2298236 G T SNP MNT ENST00000174618 human ensembl 70_37 -1 known missense c.586 p.L196M 0.969 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MNT HGNC MORC3 23515 genome.wustl.edu 37 21 37741363 37741363 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 21 37741363 37741363 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known missense c.1697 p.S566L 0.728 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MTMR2 8898 genome.wustl.edu 37 11 95598789 95598789 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 95598789 95598789 G C SNP MTMR2 ENST00000346299 human ensembl 70_37 -1 known missense c.238 p.P80A 1.000 pfam_GRAM,smart_GRAM pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR2 HGNC MYEF2 50804 genome.wustl.edu 37 15 48450996 48450996 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 48450996 48450996 C G SNP MYEF2 ENST00000324324 human ensembl 70_37 -1 known missense c.841 p.E281Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC MYH13 8735 genome.wustl.edu 37 17 10263346 10263346 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 10263346 10263346 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.576 p.V192 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH13 8735 genome.wustl.edu 37 17 10263483 10263483 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 10263483 10263483 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.528 p.L176 0.333 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH4 4622 genome.wustl.edu 37 17 10356553 10356553 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 10356553 10356553 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known silent c.3027 p.Q1009 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,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 NBEA 26960 genome.wustl.edu 37 13 36220484 36220484 + Missense_Mutation SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 13 36220484 36220484 T C SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.7706 p.L2569P 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,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBEAL2 23218 genome.wustl.edu 37 3 47039707 47039707 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 47039707 47039707 G T SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.3109 p.V1037L 1.000 NULL 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 NBEAL2 HGNC NBR1 4077 genome.wustl.edu 37 17 41348588 41348588 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 41348588 41348588 C T SNP NBR1 ENST00000341165 human ensembl 70_37 +1 known missense c.1841 p.A614V 0.242 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC NCF2 4688 genome.wustl.edu 37 1 183536381 183536381 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 183536381 183536381 C T SNP NCF2 ENST00000367535 human ensembl 70_37 -1 known silent c.813 p.K271 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_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 NIPAL3 57185 genome.wustl.edu 37 1 24787009 24787009 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 24787009 24787009 C T SNP NIPAL3 ENST00000374399 human ensembl 70_37 +1 known silent c.901 p.L301 0.999 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC NRD1 4898 genome.wustl.edu 37 1 52287195 52287195 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 52287195 52287195 C T SNP NRD1 ENST00000354831 human ensembl 70_37 -1 known missense c.1396 p.E466K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC NRP1 8829 genome.wustl.edu 37 10 33545393 33545393 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 33545393 33545393 G T SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known missense c.665 p.P222H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB pfam_CUB,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,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC OR8B3 390271 genome.wustl.edu 37 11 124267083 124267083 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 124267083 124267083 G C SNP OR8B3 ENST00000354597 human ensembl 70_37 -1 known silent c.165 p.L55 0.892 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC OSMR 9180 genome.wustl.edu 37 5 38876431 38876431 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 38876431 38876431 C T SNP OSMR ENST00000274276 human ensembl 70_37 +1 known nonsense c.202 p.Q68* 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC OTOGL 283310 genome.wustl.edu 37 12 80661098 80661098 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 80661098 80661098 C T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.2429 p.S810L 0.850 smart_VWC_out 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 OVCH2 341277 genome.wustl.edu 37 11 7716913 7716913 + Splice_Site SNP T T A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 7716913 7716913 T A SNP OVCH2 ENST00000454689 human ensembl 70_37 -1 known splice_site c.1172-2 e12-2 0.581 - - - no_errors OVCH2 HGNC PCDHA5 56143 genome.wustl.edu 37 5 140202753 140202753 + Nonsense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 140202753 140202753 G T SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known nonsense c.1393 p.E465* 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC PCNA 5111 genome.wustl.edu 37 20 5098124 5098124 + Nonsense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 5098124 5098124 C A SNP PCNA ENST00000379143 human ensembl 70_37 -1 known nonsense c.574 p.E192* 1.000 pfam_Pr_cel_nuc_antig_C,pfam_Rad9/Ddc1,tigrfam_Pr_cel_nuc_antig pfam_Pr_cel_nuc_antig_C,pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig - no_errors PCNA HGNC PCYOX1 51449 genome.wustl.edu 37 2 70504018 70504018 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 70504018 70504018 C T SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known nonsense c.1012 p.Q338* 0.859 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 PCYT1B 9468 genome.wustl.edu 37 X 24580054 24580054 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 24580054 24580054 G A SNP PCYT1B ENST00000492876 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCYT1B HGNC PDE2A 5138 genome.wustl.edu 37 11 72301026 72301026 + Splice_Site SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 72301026 72301026 C A SNP PDE2A ENST00000334456 human ensembl 70_37 -1 known splice_site c.757-1 e10-1 1.000 - - - no_errors PDE2A HGNC PDZD2 23037 genome.wustl.edu 37 5 32110196 32110196 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 32110196 32110196 C G SNP PDZD2 ENST00000513490 human ensembl 70_37 +1 known rna NULL NULL 0.985 - - - no_errors PDZD2 HGNC PEX14 5195 genome.wustl.edu 37 1 10689808 10689808 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 10689808 10689808 G A SNP PEX14 ENST00000356607 human ensembl 70_37 +1 known missense c.898 p.E300K 0.947 NULL pfam_Pex14_N - no_errors PEX14 HGNC PHF12 57649 genome.wustl.edu 37 17 27277153 27277153 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 27277153 27277153 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.178 p.D60N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 PHF12 57649 genome.wustl.edu 37 17 27277195 27277195 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 27277195 27277195 C G SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 superfamily_Znf_FYVE_PHD 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 PHF23 79142 genome.wustl.edu 37 17 7140950 7140950 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 7140950 7140950 G T SNP PHF23 ENST00000320316 human ensembl 70_37 -1 known missense c.64 p.Q22K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC PID1 55022 genome.wustl.edu 37 2 229890630 229890630 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 229890630 229890630 G T SNP PID1 ENST00000354069 human ensembl 70_37 -1 known missense c.471 p.H157Q 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors PID1 HGNC PIGR 5284 genome.wustl.edu 37 1 207110701 207110701 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 207110701 207110701 C T SNP PIGR ENST00000356495 human ensembl 70_37 -1 known missense c.784 p.E262K 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC PKD1L2 114780 genome.wustl.edu 37 16 81253777 81253777 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 81253777 81253777 G C SNP PKD1L2 ENST00000337114 human ensembl 70_37 -1 known missense c.199 p.Q67E 0.175 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin 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 DKFZP686J19100 Uniprot_genename POLR1A 25885 genome.wustl.edu 37 2 86267661 86267661 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 86267661 86267661 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known silent c.3594 p.L1198 0.193 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 POLR1A 25885 genome.wustl.edu 37 2 86276325 86276325 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 86276325 86276325 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.2433 p.K811N 0.996 NULL 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 POTEI 653269 genome.wustl.edu 37 2 131221222 131221222 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 131221222 131221222 C T SNP POTEI ENST00000451531 human ensembl 70_37 -1 novel missense c.2395 p.E799K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEI HGNC PPL 5493 genome.wustl.edu 37 16 4936000 4936000 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 4936000 4936000 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2656 p.D886H 0.112 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPP2R2C 5522 genome.wustl.edu 37 4 6325074 6325074 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 6325074 6325074 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known missense c.1299 p.N433K 1.000 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 PPP2R2C HGNC PRICKLE4 29964 genome.wustl.edu 37 6 41754697 41754697 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 41754697 41754697 G C SNP PRICKLE4 ENST00000335515 human ensembl 70_37 +1 known missense c.985 p.E329Q 0.019 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC PROK1 84432 genome.wustl.edu 37 1 110993841 110993841 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 110993841 110993841 G A SNP PROK1 ENST00000271331 human ensembl 70_37 +1 known missense c.3 p.M1I 0.990 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK1 HGNC PTPRA 5786 genome.wustl.edu 37 20 2945628 2945628 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 2945628 2945628 C T SNP PTPRA ENST00000425918 human ensembl 70_37 +1 known silent c.228 p.F76 0.944 pirsf_Tyr_Pase_rcpt_a/e-type pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC PTPRB 5787 genome.wustl.edu 37 12 70964988 70964988 + Missense_Mutation SNP T T G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 70964988 70964988 T G SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.3188 p.D1063A 0.999 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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PTPRH 5794 genome.wustl.edu 37 19 55705544 55705544 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 55705544 55705544 C G SNP PTPRH ENST00000588559 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors PTPRH HGNC RACGAP1 29127 genome.wustl.edu 37 12 50410481 50410481 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 50410481 50410481 C T SNP RACGAP1 ENST00000312377 human ensembl 70_37 -1 known silent c.18 p.L6 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC RAI1 10743 genome.wustl.edu 37 17 17698750 17698750 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 17698750 17698750 G A SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.2488 p.E830K 0.972 NULL smart_Znf_PHD - no_errors RAI1 HGNC RAI1 10743 genome.wustl.edu 37 17 17698867 17698867 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 17698867 17698867 G C SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.2605 p.E869Q 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC REL 5966 genome.wustl.edu 37 2 61145397 61145397 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 61145397 61145397 G A SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.607 p.E203K 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC REV3L 5980 genome.wustl.edu 37 6 111697429 111697429 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 111697429 111697429 G C SNP REV3L ENST00000358835 human ensembl 70_37 -1 known missense c.2129 p.S710C 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 RFX3 5991 genome.wustl.edu 37 9 3275593 3275593 + Silent SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 3275593 3275593 T C SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known silent c.993 p.P331 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC RGS14 10636 genome.wustl.edu 37 5 176794490 176794490 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 176794490 176794490 G A SNP RGS14 ENST00000408923 human ensembl 70_37 +1 known missense c.559 p.E187K 0.998 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS14 HGNC RGS6 9628 genome.wustl.edu 37 14 72945011 72945011 + Silent SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 72945011 72945011 T C SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known silent c.828 p.C276 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_Regulat_G_prot_signal,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,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC RLIM 51132 genome.wustl.edu 37 X 73812025 73812025 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 73812025 73812025 C G SNP RLIM ENST00000332687 human ensembl 70_37 -1 known silent c.1125 p.V375 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC RRP7B 91695 genome.wustl.edu 37 22 42977984 42977984 + RNA SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 42977984 42977984 G T SNP RRP7B ENST00000357802 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RRP7B HGNC RWDD3 25950 genome.wustl.edu 37 1 95712057 95712057 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 95712057 95712057 C G SNP RWDD3 ENST00000460571 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RWDD3 HGNC RYR3 6263 genome.wustl.edu 37 15 34131094 34131094 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 34131094 34131094 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.12913 p.E4305K 1.000 pfam_Ryanrecept_TM4-6,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_2,pfscan_MIR_motif - no_errors RYR3 HGNC SALL3 27164 genome.wustl.edu 37 18 76754104 76754104 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 18 76754104 76754104 C T SNP SALL3 ENST00000537592 human ensembl 70_37 +1 known missense c.2113 p.R705W 0.996 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC SAMD1 90378 genome.wustl.edu 37 19 14199246 14199246 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 14199246 14199246 C T SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel missense c.1282 p.D428N 0.931 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC SCN8A 6334 genome.wustl.edu 37 12 52200842 52200842 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 52200842 52200842 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.5572 p.D1858N 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SEC23A 10484 genome.wustl.edu 37 14 39561767 39561767 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 39561767 39561767 G C SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known missense c.344 p.S115C 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 SEC23A HGNC SERINC2 347735 genome.wustl.edu 37 1 31907413 31907413 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 31907413 31907413 G A SNP SERINC2 ENST00000491976 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors SERINC2 HGNC SERPINA1 5265 genome.wustl.edu 37 14 94849131 94849131 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 94849131 94849131 C T SNP SERPINA1 ENST00000355814 human ensembl 70_37 -1 known silent c.444 p.L148 0.019 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC SETDB1 9869 genome.wustl.edu 37 1 150936781 150936781 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150936781 150936781 G C SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.3817 p.E1273Q 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,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 SF1 7536 genome.wustl.edu 37 11 64535724 64535724 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 64535724 64535724 G A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known missense c.922 p.R308W 0.990 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 SKIDA1 387640 genome.wustl.edu 37 10 21805509 21805509 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 21805509 21805509 C T SNP SKIDA1 ENST00000449193 human ensembl 70_37 -1 known missense c.1243 p.E415K 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC SKOR1 390598 genome.wustl.edu 37 15 68120303 68120303 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 68120303 68120303 G A SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2137 p.D713N 0.933 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC SLC12A7 10723 genome.wustl.edu 37 5 1081831 1081831 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 1081831 1081831 C T SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known silent c.1158 p.A386 0.010 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC SLC2A1 6513 genome.wustl.edu 37 1 43392500 43392500 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 43392500 43392500 G A SNP SLC2A1 ENST00000475162 human ensembl 70_37 -1 known rna NULL NULL 0.668 - - - no_errors SLC2A1 HGNC SLC2A1 6513 genome.wustl.edu 37 1 43392510 43392510 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 43392510 43392510 G A SNP SLC2A1 ENST00000475162 human ensembl 70_37 -1 known rna NULL NULL 0.078 - - - no_errors SLC2A1 HGNC SLC44A4 80736 genome.wustl.edu 37 6 31832357 31832357 + RNA DEL A A - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 31832357 31832357 A - DEL SLC44A4 ENST00000487680 human ensembl 70_37 -1 putative rna NULL NULL 0.055 - - - no_errors SLC44A4 HGNC SLITRK3 22865 genome.wustl.edu 37 3 164906461 164906461 + Missense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 164906461 164906461 C A SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known missense c.2158 p.G720W 0.411 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC SMAP2 64744 genome.wustl.edu 37 1 40879805 40879805 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 40879805 40879805 C T SNP SMAP2 ENST00000487871 human ensembl 70_37 +1 known rna NULL NULL 0.123 - - - no_errors SMAP2 HGNC SMCR7L 54471 genome.wustl.edu 37 22 39910184 39910184 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 39910184 39910184 C G SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known missense c.1248 p.I416M 1.000 NULL NULL - no_errors SMCR7L HGNC SMTN 6525 genome.wustl.edu 37 22 31484503 31484503 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 31484503 31484503 C T SNP SMTN ENST00000347557 human ensembl 70_37 +1 known nonsense c.205 p.Q69* 0.605 pfam_Smoothelin pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC SNCG 6623 genome.wustl.edu 37 10 88722612 88722612 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 88722612 88722612 G A SNP SNCG ENST00000465679 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNCG HGNC SOGA3 387104 genome.wustl.edu 37 6 127836178 127836178 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 127836178 127836178 C G SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known missense c.1116 p.E372D 1.000 NULL pfam_DUF3166 - no_errors SOGA3 HGNC SP2 6668 genome.wustl.edu 37 17 45994157 45994157 + Silent SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 45994157 45994157 G T SNP SP2 ENST00000376741 human ensembl 70_37 +1 known silent c.720 p.L240 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC SPATA9 83890 genome.wustl.edu 37 5 95018273 95018273 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 95018273 95018273 C G SNP SPATA9 ENST00000274432 human ensembl 70_37 -1 known missense c.109 p.D37H 1.000 NULL NULL - no_errors SPATA9 HGNC SYNE1 23345 genome.wustl.edu 37 6 152782776 152782776 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 152782776 152782776 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.2350 p.E784Q 0.974 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 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 TAF2 6873 genome.wustl.edu 37 8 120831654 120831654 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 8 120831654 120831654 G C SNP TAF2 ENST00000378164 human ensembl 70_37 -1 known missense c.231 p.I77M 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC TANK 10010 genome.wustl.edu 37 2 162061215 162061215 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 162061215 162061215 G C SNP TANK ENST00000259075 human ensembl 70_37 +1 known missense c.238 p.E80Q 1.000 NULL NULL - no_errors TANK HGNC TAS2R7 50837 genome.wustl.edu 37 12 10954406 10954406 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 10954406 10954406 G T SNP TAS2R7 ENST00000240687 human ensembl 70_37 -1 known missense c.764 p.T255N 0.133 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC TENM1 10178 genome.wustl.edu 37 X 123514396 123514396 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 123514396 123514396 C G SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.8189 p.G2730A 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 TENM1 10178 genome.wustl.edu 37 X 123556368 123556368 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 123556368 123556368 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.4225 p.R1409C 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 TEX15 56154 genome.wustl.edu 37 8 30700365 30700365 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 8 30700365 30700365 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.6169 p.E2057K 1.000 NULL NULL - no_errors TEX15 HGNC TGFBR2 7048 genome.wustl.edu 37 3 30729968 30729968 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 30729968 30729968 C T SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known nonsense c.1564 p.R522* 0.992 pfam_Prot_kinase_cat_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_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_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_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC TMEM192 201931 genome.wustl.edu 37 4 166000823 166000823 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 166000823 166000823 G C SNP TMEM192 ENST00000306480 human ensembl 70_37 -1 known missense c.803 p.P268R 0.047 NULL NULL - no_errors TMEM192 HGNC TMEM52B 120939 genome.wustl.edu 37 12 10339184 10339184 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 10339184 10339184 C G SNP TMEM52B ENST00000381923 human ensembl 70_37 +1 known missense c.303 p.I101M 0.971 NULL NULL - no_errors TMEM52B HGNC TNFRSF21 27242 genome.wustl.edu 37 6 47251693 47251693 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 47251693 47251693 G C SNP TNFRSF21 ENST00000296861 human ensembl 70_37 -1 known missense c.1224 p.I408M 1.000 superfamily_DEATH-like,smart_Death,prints_TNFR_21 pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC TNS3 64759 genome.wustl.edu 37 7 47384590 47384590 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 47384590 47384590 C T SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.2498 p.R833K 0.844 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC TRIM54 57159 genome.wustl.edu 37 2 27522162 27522162 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 27522162 27522162 G C SNP TRIM54 ENST00000296098 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box 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 TSEN34 79042 genome.wustl.edu 37 19 54697142 54697142 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 54697142 54697142 G C SNP TSEN34 ENST00000429671 human ensembl 70_37 +1 known missense c.858 p.K286N 1.000 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC TSHR 7253 genome.wustl.edu 37 14 81422242 81422242 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 81422242 81422242 C G SNP TSHR ENST00000557096 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors TSHR HGNC TSPAN15 23555 genome.wustl.edu 37 10 71267213 71267213 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 71267213 71267213 C G SNP TSPAN15 ENST00000463840 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors TSPAN15 HGNC TTN 7273 genome.wustl.edu 37 2 179554591 179554591 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 179554591 179554591 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.28063 p.E9355K 1.000 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_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBA3FP 113691 genome.wustl.edu 37 22 21368230 21368230 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 21368230 21368230 G A SNP TUBA3FP ENST00000292748 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TUBA3FP HGNC TUT1 64852 genome.wustl.edu 37 11 62348654 62348654 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 62348654 62348654 G C SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.728 p.S243C 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC UGT2B17 7367 genome.wustl.edu 37 4 69433770 69433770 + Missense_Mutation SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 69433770 69433770 T C SNP UGT2B17 ENST00000317746 human ensembl 70_37 -1 known missense c.433 p.K145E 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC UNC13A 23025 genome.wustl.edu 37 19 17767092 17767092 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 17767092 17767092 C G SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.1147 p.E383Q 0.996 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNC80 285175 genome.wustl.edu 37 2 210809892 210809892 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 210809892 210809892 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.6970 p.E2324Q 1.000 NULL NULL - no_errors UNC80 HGNC USP34 9736 genome.wustl.edu 37 2 61575399 61575399 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 61575399 61575399 G C SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.1891 p.H631D 0.998 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC USP47 55031 genome.wustl.edu 37 11 11962085 11962085 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 11962085 11962085 G C SNP USP47 ENST00000399455 human ensembl 70_37 +1 known missense c.2363 p.R788T 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC VCAM1 7412 genome.wustl.edu 37 1 101186190 101186190 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 101186190 101186190 G T SNP VCAM1 ENST00000294728 human ensembl 70_37 +1 known missense c.223 p.G75W 0.977 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC WDFY3 23001 genome.wustl.edu 37 4 85707190 85707190 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 85707190 85707190 G A SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.4004 p.T1335I 0.999 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 WDR36 134430 genome.wustl.edu 37 5 110440408 110440408 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 110440408 110440408 G C SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known missense c.1087 p.D363H 1.000 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC WDR72 256764 genome.wustl.edu 37 15 54003546 54003546 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 54003546 54003546 G C SNP WDR72 ENST00000360509 human ensembl 70_37 -1 known missense c.844 p.Q282E 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 WDR72 HGNC WLS 79971 genome.wustl.edu 37 1 68614246 68614246 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 68614246 68614246 C T SNP WLS ENST00000540432 human ensembl 70_37 -1 known missense c.1070 p.R357K 1.000 NULL NULL - no_errors WLS HGNC WNT9B 7484 genome.wustl.edu 37 17 44950037 44950037 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 44950037 44950037 C T SNP WNT9B ENST00000290015 human ensembl 70_37 +1 known silent c.232 p.L78 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC XRN2 22803 genome.wustl.edu 37 20 21309246 21309246 + Nonsense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 21309246 21309246 C G SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known nonsense c.365 p.S122* 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ZFC3H1 196441 genome.wustl.edu 37 12 72038798 72038798 + Nonsense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 72038798 72038798 G A SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known nonsense c.1138 p.Q380* 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ZHX3 23051 genome.wustl.edu 37 20 39831549 39831549 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 39831549 39831549 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.2008 p.E670K 0.998 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZHX3 23051 genome.wustl.edu 37 20 39831588 39831588 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 39831588 39831588 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.1969 p.D657N 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZNF169 169841 genome.wustl.edu 37 9 97062305 97062305 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 97062305 97062305 G C SNP ZNF169 ENST00000395395 human ensembl 70_37 +1 known missense c.465 p.K155N 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 ZNF169 HGNC ZNF180 7733 genome.wustl.edu 37 19 44980766 44980766 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 44980766 44980766 C G SNP ZNF180 ENST00000221327 human ensembl 70_37 -1 known missense c.1932 p.L644F 0.055 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 ZNF180 HGNC ZNF511 118472 genome.wustl.edu 37 10 135165620 135165620 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 135165620 135165620 C G SNP ZNF511 ENST00000368554 human ensembl 70_37 +1 known missense c.715 p.Q239E 0.001 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ZNF532 55205 genome.wustl.edu 37 18 56615335 56615335 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 18 56615335 56615335 C T SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known silent c.2742 p.F914 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ZNF628 89887 genome.wustl.edu 37 19 55995213 55995213 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 55995213 55995213 G C SNP ZNF628 ENST00000598519 human ensembl 70_37 +1 known missense c.2653 p.E885Q 0.728 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ZNF711 7552 genome.wustl.edu 37 X 84526761 84526761 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 84526761 84526761 G A SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.2237 p.C746Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ZNF763 284390 genome.wustl.edu 37 19 12089811 12089811 + Missense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 12089811 12089811 C A SNP ZNF763 ENST00000538752 human ensembl 70_37 +1 known missense c.1132 p.H378N 0.979 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF763 HGNC ZNF77 58492 genome.wustl.edu 37 19 2933928 2933928 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 2933928 2933928 C T SNP ZNF77 ENST00000314531 human ensembl 70_37 -1 known silent c.1197 p.V399 0.340 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 ZNF77 HGNC ZNF800 168850 genome.wustl.edu 37 7 127014255 127014255 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 127014255 127014255 G C SNP ZNF800 ENST00000265827 human ensembl 70_37 -1 known missense c.1135 p.Q379E 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ZNF83 55769 genome.wustl.edu 37 19 53116876 53116876 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 53116876 53116876 C G SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.942 p.E314D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC