Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA12 0 genome.wustl.edu 37 2 215831659 215831659 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 215831659 215831659 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.5797 p.G1933S 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 105 0 0.00 88 36 29.03 ABCC12 0 genome.wustl.edu 37 16 48121987 48121987 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 48121987 48121987 G T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known nonsense c.3485 p.S1162* 0.982 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 73 0 0.00 37 22 37.29 ABCE1 0 genome.wustl.edu 37 4 146032195 146032195 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 146032195 146032195 T G SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.689 p.V230G 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 tier1 - - 104 0 0.00 44 26 37.14 ACAP2 0 genome.wustl.edu 37 3 195047675 195047675 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 195047675 195047675 A G SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.683 p.V228A 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 tier1 - - 37 0 0.00 37 19 33.93 ACOT1 0 genome.wustl.edu 37 14 74009789 74009789 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 74009789 74009789 C G SNP ACOT1 ENST00000311148 human ensembl 74_37 +1 known silent c.696 p.S232 0.992 pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 tier1 - - 91 0 0.00 59 21 25.93 ACOT11 0 genome.wustl.edu 37 1 55070856 55070856 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55070856 55070856 G C SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.1344 p.Q448H 0.993 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 tier1 - - 84 0 0.00 49 28 36.36 ACTN4 0 genome.wustl.edu 37 19 39215193 39215193 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 39215193 39215193 G C SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1998 p.Q666H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 140 0 0.00 135 24 15.09 ADAM19 0 genome.wustl.edu 37 5 156923951 156923951 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 156923951 156923951 G T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.1551 p.N517K 0.273 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 27 0 0.00 17 15 46.88 ADAMTS12 0 genome.wustl.edu 37 5 33649015 33649015 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 33649015 33649015 T G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1391 p.K464T 0.998 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 87 0 0.00 77 35 31.25 ADAMTS5 0 genome.wustl.edu 37 21 28337677 28337677 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 28337677 28337677 T G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1034 p.Q345P 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 227 0 0.00 119 63 34.43 ADCY5 0 genome.wustl.edu 37 3 123167204 123167204 + Frame_Shift_Del DEL C C - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 123167204 123167204 C - DEL ADCY5 ENST00000462833 human ensembl 74_37 -1 known frame_shift_del c.189 p.Q64fs 0.995 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 tier1 23 0 0.00 14 4 22.22 ADORA3 0 genome.wustl.edu 37 1 112042829 112042829 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 112042829 112042829 G A SNP ADORA3 ENST00000241356 human ensembl 74_37 -1 known silent c.700 p.L234 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA3 HGNC ENSG00000121933 tier1 - - 107 0 0.00 58 29 33.33 AFF3 0 genome.wustl.edu 37 2 100623273 100623273 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 100623273 100623273 T C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.769 p.T257A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 97 0 0.00 55 28 33.73 AGK 0 genome.wustl.edu 37 7 141292953 141292953 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 141292953 141292953 C T SNP AGK ENST00000355413 human ensembl 74_37 +1 known missense c.109 p.L37F 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 tier1 - - 57 0 0.00 28 11 28.21 AHDC1 0 genome.wustl.edu 37 1 27875278 27875278 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 27875278 27875278 G C SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.3349 p.L1117V 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 178 0 0.00 110 52 32.10 AKAP13 0 genome.wustl.edu 37 15 86124979 86124979 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 86124979 86124979 C G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.3680 p.T1227S 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 69 0 0.00 20 21 51.22 AKR7A3 0 genome.wustl.edu 37 1 19612803 19612803 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19612803 19612803 A G SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.278 p.F93S 0.516 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 tier1 - - 225 0 0.00 132 28 17.50 AKR7A3 0 genome.wustl.edu 37 1 19612805 19612805 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19612805 19612805 C T SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known silent c.276 p.R92 0.850 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 tier1 - - 227 0 0.00 133 28 17.39 ALCAM 0 genome.wustl.edu 37 3 105264121 105264121 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 105264121 105264121 C T SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.1046 p.A349V 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 tier1 - - 130 0 0.00 76 50 39.68 AMBRA1 0 genome.wustl.edu 37 11 46569856 46569856 + Silent SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 46569856 46569856 A C SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.75 p.A25 0.991 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 524 0 0.00 344 175 33.65 AMFR 0 genome.wustl.edu 37 16 56441887 56441887 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 56441887 56441887 T C SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.655 p.M219V 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 tier1 - - 79 0 0.00 47 18 27.69 AMOTL2 0 genome.wustl.edu 37 3 134078242 134078242 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 134078242 134078242 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.1987 p.R663W 0.998 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 - - 92 0 0.00 82 36 30.51 ANP32D 0 genome.wustl.edu 37 12 48866620 48866620 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 48866620 48866620 C T SNP ANP32D ENST00000266594 human ensembl 74_37 +1 known missense c.173 p.A58V 0.985 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 tier1 - - 138 0 0.00 94 36 27.69 APC 0 genome.wustl.edu 37 5 112174114 112174114 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 112174114 112174114 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.2823 p.E941 0.980 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 46 0 0.00 24 11 31.43 ARFGEF2 0 genome.wustl.edu 37 20 47611101 47611101 + Silent SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 47611101 47611101 A T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.3087 p.T1029 0.017 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 75 0 0.00 90 18 16.67 ARHGAP5 0 genome.wustl.edu 37 14 32561318 32561318 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 32561318 32561318 A C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1443 p.E481D 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 153 0 0.00 60 53 46.90 ARID1A 0 genome.wustl.edu 37 1 27100151 27100151 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 27100151 27100151 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.3947 p.S1316* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 157 0 0.00 57 99 63.46 ARPP21 0 genome.wustl.edu 37 3 35780834 35780834 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 35780834 35780834 G T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1673 p.G558V 0.999 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 197 0 0.00 118 54 31.40 ASPSCR1 0 genome.wustl.edu 37 17 79973161 79973161 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 79973161 79973161 C T SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.1564 p.P522S 0.014 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 tier1 - - 82 0 0.00 85 60 41.38 ATP6V0A1 0 genome.wustl.edu 37 17 40659608 40659608 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 40659608 40659608 A G SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.2096 p.H699R 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 tier1 - - 139 0 0.00 91 58 38.93 B3GNT4 0 genome.wustl.edu 37 12 122691057 122691057 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 122691057 122691057 C G SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.259 p.L87V 0.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 tier1 - - 489 0 0.00 254 125 32.89 BAI1 0 genome.wustl.edu 37 8 143558547 143558547 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 143558547 143558547 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 33 0 0.00 24 16 40.00 BMPER 0 genome.wustl.edu 37 7 33976945 33976945 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 33976945 33976945 C G SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.264 p.S88 0.004 smart_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 tier1 - - 151 0 0.00 75 37 33.04 BRCA2 0 genome.wustl.edu 37 13 32954167 32954167 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 13 32954167 32954167 G C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.9141 p.Q3047H 0.179 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 49 0 0.00 36 5 12.20 BTG4 0 genome.wustl.edu 37 11 111365983 111365983 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 111365983 111365983 A G SNP BTG4 ENST00000356018 human ensembl 74_37 -1 known silent c.567 p.N189 0.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 tier1 - - 111 0 0.00 72 39 35.14 C15orf43 0 genome.wustl.edu 37 15 45248926 45248926 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 45248926 45248926 G C SNP C15orf43 ENST00000340827 human ensembl 74_37 +1 known missense c.10 p.G4R 1.000 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 tier1 - - 73 0 0.00 45 21 31.82 C3 0 genome.wustl.edu 37 19 6714022 6714022 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 6714022 6714022 C G SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.754 p.E252Q 0.001 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 188 0 0.00 155 48 23.41 C9orf152 0 genome.wustl.edu 37 9 112963431 112963431 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 112963431 112963431 G A SNP C9orf152 ENST00000400613 human ensembl 74_37 -1 known missense c.517 p.P173S 0.028 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 tier1 - - 245 0 0.00 202 82 28.87 CACNA2D1 0 genome.wustl.edu 37 7 81667494 81667494 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 81667494 81667494 T C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.937 p.R313G 0.961 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 106 0 0.00 72 46 38.98 CARS 0 genome.wustl.edu 37 11 3041523 3041523 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 3041523 3041523 C T SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.1193 p.R398H 1.000 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 tier1 - - 91 0 0.00 74 24 24.49 CCP110 0 genome.wustl.edu 37 16 19554080 19554080 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 19554080 19554080 C G SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known missense c.2365 p.Q789E 1.000 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 tier1 - - 37 0 0.00 27 17 38.64 CCR5 0 genome.wustl.edu 37 3 46415067 46415067 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 46415067 46415067 G A SNP CCR5 ENST00000292303 human ensembl 74_37 +1 known missense c.674 p.R225Q 0.312 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 tier1 - - 353 0 0.00 255 108 29.67 CCR9 0 genome.wustl.edu 37 3 45943175 45943175 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 45943175 45943175 T G SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.895 p.F299V 0.083 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 tier1 - - 126 0 0.00 89 37 29.37 CD300LB 0 genome.wustl.edu 37 17 72519041 72519041 + Splice_Site SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 72519041 72519041 T A SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known splice_site c.555-2 e4-2 0.979 - - - no_errors CD300LB HGNC ENSG00000178789 tier1 - - 42 0 0.00 37 35 48.61 CDK14 0 genome.wustl.edu 37 7 90675216 90675216 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 90675216 90675216 T C SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1046 p.L349P 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 tier1 - - 62 0 0.00 52 22 29.73 CDKN1B 0 genome.wustl.edu 37 12 12871131 12871131 + Frame_Shift_Del DEL G G - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 12871131 12871131 G - DEL CDKN1B ENST00000228872 human ensembl 74_37 +1 known frame_shift_del c.358 p.A121fs 0.913 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 tier1 93 0 0.00 60 26 30.23 CEP85 0 genome.wustl.edu 37 1 26597570 26597570 + Nonsense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 26597570 26597570 G A SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known nonsense c.1715 p.W572* 0.938 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 tier1 - - 76 0 0.00 38 27 41.54 CHDH 0 genome.wustl.edu 37 3 53851805 53851805 + Nonstop_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 53851805 53851805 T A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known nonstop c.1784 p.*595L 0.901 NULL pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 tier1 - - 36 0 0.00 10 4 28.57 CHRNA2 0 genome.wustl.edu 37 8 27328547 27328547 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 27328547 27328547 G C SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.29 p.S10C 0.002 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 tier1 - - 61 0 0.00 45 25 35.71 CHRNG 0 genome.wustl.edu 37 2 233407629 233407629 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 233407629 233407629 G C SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.642 p.K214N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 96 0 0.00 53 28 34.57 CNNM1 0 genome.wustl.edu 37 10 101147910 101147910 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 101147910 101147910 C A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known nonsense c.2526 p.C842* 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 tier1 - - 114 0 0.00 46 49 51.58 COL12A1 0 genome.wustl.edu 37 6 75866024 75866024 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 75866024 75866024 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3199 p.P1067S 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 167 0 0.00 112 63 36.00 COL18A1 0 genome.wustl.edu 37 21 46876079 46876079 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 46876079 46876079 C A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.635 p.P212Q 0.001 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 91 0 0.00 73 24 24.74 COL18A1 0 genome.wustl.edu 37 21 46930021 46930021 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 46930021 46930021 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4784 p.R1595Q 0.873 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 rs200484625 - 23 0 0.00 19 8 29.63 COL18A1 0 genome.wustl.edu 37 21 46932280 46932280 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 46932280 46932280 A G SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.5233 p.I1745V 1.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 53 0 0.00 46 14 23.33 COPA 0 genome.wustl.edu 37 1 160267152 160267152 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 160267152 160267152 G C SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2271 p.I757M 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 195 0 0.00 139 64 31.53 CPNE8 0 genome.wustl.edu 37 12 39223183 39223183 + Silent SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 39223183 39223183 T A SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known silent c.405 p.I135 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 251 0 0.00 160 75 31.91 CRCT1 0 genome.wustl.edu 37 1 152488000 152488000 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 152488000 152488000 C G SNP CRCT1 ENST00000368790 human ensembl 74_37 +1 known missense c.141 p.C47W 0.229 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 tier1 - - 26 0 0.00 17 9 34.62 CRLF3 0 genome.wustl.edu 37 17 29113018 29113018 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 29113018 29113018 C G SNP CRLF3 ENST00000324238 human ensembl 74_37 -1 known missense c.991 p.D331H 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 tier1 - - 167 0 0.00 100 66 39.76 CROCCP2 0 genome.wustl.edu 37 1 16952885 16952885 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 16952885 16952885 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 - - 197 0 0.00 216 21 8.86 CROT 0 genome.wustl.edu 37 7 87011819 87011819 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 87011819 87011819 C A SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.1261 p.Q421K 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 tier1 - - 124 0 0.00 71 42 37.17 CTNNAL1 0 genome.wustl.edu 37 9 111727685 111727685 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 111727685 111727685 T C SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.1564 p.I522V 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 tier1 - - 114 0 0.00 122 46 27.38 CTNNB1 0 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 41266113 41266113 C G SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.110 p.S37C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 rs121913403 - 64 0 0.00 15 39 72.22 CUL7 0 genome.wustl.edu 37 6 43018033 43018033 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 43018033 43018033 T A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.1589 p.Y530F 0.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 tier1 - - 330 0 0.00 171 85 32.95 DDX58 0 genome.wustl.edu 37 9 32487519 32487519 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 32487519 32487519 A G SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.1325 p.V442A 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 tier1 - - 92 0 0.00 56 27 32.53 DEFB123 0 genome.wustl.edu 37 20 30037835 30037835 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 30037835 30037835 G A SNP DEFB123 ENST00000376309 human ensembl 74_37 +1 known missense c.62 p.G21D 0.002 NULL NULL - no_errors DEFB123 HGNC ENSG00000180424 tier1 - - 205 0 0.00 147 51 25.76 DENND5A 0 genome.wustl.edu 37 11 9225482 9225482 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 9225482 9225482 T A SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.674 p.Q225L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 tier1 - - 63 0 0.00 39 25 39.06 DFNA5 0 genome.wustl.edu 37 7 24784184 24784184 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 24784184 24784184 T G SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.401 p.E134A 0.264 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 tier1 - - 177 0 0.00 124 46 27.06 DGKI 0 genome.wustl.edu 37 7 137151687 137151687 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 137151687 137151687 T C SNP DGKI ENST00000424189 human ensembl 74_37 -1 novel silent c.2508 p.A836 0.992 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 73 0 0.00 41 25 37.88 DHX9 0 genome.wustl.edu 37 1 182844052 182844052 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 182844052 182844052 A G SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1778 p.K593R 1.000 superfamily_P-loop_NTPase pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 108 0 0.00 53 32 37.65 DISP1 0 genome.wustl.edu 37 1 223176822 223176822 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 223176822 223176822 C G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2083 p.L695V 0.028 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 tier1 - - 166 0 0.00 102 48 32.00 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 13717530 13717530 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 55 0 0.00 45 8 15.09 DNAJC13 0 genome.wustl.edu 37 3 132166292 132166292 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 132166292 132166292 C A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.272 p.T91K 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 55 0 0.00 47 10 17.54 DQX1 0 genome.wustl.edu 37 2 74745582 74745582 + Silent SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 74745582 74745582 G T SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known silent c.2145 p.V715 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 tier1 - - 99 0 0.00 73 36 33.03 DUS4L 0 genome.wustl.edu 37 7 107207495 107207495 + RNA SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 107207495 107207495 A G SNP DUS4L ENST00000498786 human ensembl 74_37 +1 known rna NULL NULL 0.967 - - - no_errors DUS4L HGNC ENSG00000105865 tier1 - - 32 0 0.00 19 10 34.48 DYX1C1 0 genome.wustl.edu 37 15 55710308 55710308 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 55710308 55710308 A C SNP DYX1C1 ENST00000380679 human ensembl 74_37 -1 known missense c.1071 p.I357M 0.002 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors DYX1C1 HGNC ENSG00000256061 tier1 - - 29 0 0.00 16 11 40.74 ECD 0 genome.wustl.edu 37 10 74916070 74916070 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 74916070 74916070 C T SNP ECD ENST00000430082 human ensembl 74_37 -1 known missense c.553 p.E185K 0.994 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 tier1 - - 98 0 0.00 89 70 43.75 EML3 0 genome.wustl.edu 37 11 62376087 62376087 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 62376087 62376087 G C SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1037 p.T346R 0.993 superfamily_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 tier1 - - 363 0 0.00 238 95 28.53 EP400 0 genome.wustl.edu 37 12 132514584 132514584 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 132514584 132514584 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5743 p.R1915C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 201 0 0.00 113 49 30.25 EPB41L3 0 genome.wustl.edu 37 18 5433965 5433965 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 18 5433965 5433965 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.761 p.R254H 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 319 0 0.00 93 69 42.59 EPX 0 genome.wustl.edu 37 17 56270780 56270780 + Silent SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 56270780 56270780 G C SNP EPX ENST00000225371 human ensembl 74_37 +1 known silent c.219 p.L73 1.000 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 - - 265 0 0.00 236 76 24.36 EPX 0 genome.wustl.edu 37 17 56274361 56274361 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 56274361 56274361 C A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.863 p.A288E 0.954 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 - - 229 0 0.00 224 77 25.58 ESYT3 0 genome.wustl.edu 37 3 138191676 138191676 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 138191676 138191676 C T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known silent c.2212 p.L738 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 tier1 - - 260 0 0.00 169 143 45.83 EVC2 0 genome.wustl.edu 37 4 5620354 5620354 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 5620354 5620354 G C SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2557 p.Q853E 0.998 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 29 0 0.00 14 7 33.33 EXTL1 0 genome.wustl.edu 37 1 26356983 26356983 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 26356983 26356983 A T SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.998 p.Q333L 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 tier1 - - 166 0 0.00 100 55 35.48 FAM188B 0 genome.wustl.edu 37 7 30921846 30921846 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 30921846 30921846 T A SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.2022 p.S674R 0.782 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 tier1 - - 196 0 0.00 110 57 34.13 FAM219A 0 genome.wustl.edu 37 9 34402376 34402376 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 34402376 34402376 C G SNP FAM219A ENST00000379078 human ensembl 74_37 -1 known missense c.350 p.W117S 0.000 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 tier1 - - 233 0 0.00 154 50 24.51 FAM71F2 0 genome.wustl.edu 37 7 128312448 128312448 + RNA SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 128312448 128312448 A C SNP FAM71F2 ENST00000460349 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors FAM71F2 HGNC ENSG00000205085 tier1 - - 21 0 0.00 18 6 25.00 FAM9A 0 genome.wustl.edu 37 X 8768144 8768144 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 8768144 8768144 G A SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known silent c.69 p.A23 0.952 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 tier1 - - 24 0 0.00 17 16 48.48 FANCA 0 genome.wustl.edu 37 16 89806506 89806506 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 89806506 89806506 C G SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.3830 p.S1277T 0.109 pfam_Fanconia pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 tier1 - - 171 0 0.00 118 58 32.95 FAT3 0 genome.wustl.edu 37 11 92088009 92088009 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 92088009 92088009 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2731 p.E911Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 162 0 0.00 78 31 28.44 FAT4 0 genome.wustl.edu 37 4 126411252 126411252 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 126411252 126411252 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.13275 p.V4425 0.446 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 172 0 0.00 99 50 33.56 FGF21 0 genome.wustl.edu 37 19 49260198 49260198 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 49260198 49260198 A T SNP FGF21 ENST00000222157 human ensembl 74_37 +1 known missense c.251 p.K84I 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF21 HGNC ENSG00000105550 tier1 - - 368 0 0.00 216 132 37.93 FH 0 genome.wustl.edu 37 1 241667375 241667375 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 241667375 241667375 G C SNP FH ENST00000366560 human ensembl 74_37 -1 known missense c.1075 p.P359A 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Fumarate_lyase_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 tier1 - - 58 0 0.00 25 12 32.43 FLNA 0 genome.wustl.edu 37 X 153591144 153591144 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 153591144 153591144 C G SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.2289 p.V763 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 tier1 - - 10 0 0.00 3 17 85.00 FOXM1 0 genome.wustl.edu 37 12 2968020 2968020 + Silent SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 2968020 2968020 A T SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known silent c.2190 p.S730 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 - - 121 0 0.00 82 15 15.46 FYB 0 genome.wustl.edu 37 5 39202288 39202288 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 39202288 39202288 A C SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.805 p.F269V 0.995 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 211 0 0.00 119 61 33.70 GABRD 0 genome.wustl.edu 37 1 1960679 1960679 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 1960679 1960679 C T SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.821 p.A274V 0.996 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 tier1 - - 12 0 0.00 7 9 52.94 GBE1 0 genome.wustl.edu 37 3 81695552 81695552 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 81695552 81695552 G T SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.773 p.A258E 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 95 0 0.00 35 15 30.00 GBE1 0 genome.wustl.edu 37 3 81754641 81754641 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 81754641 81754641 T C SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known silent c.267 p.K89 0.998 pfam_Glyco_hydro_13_N,superfamily_Ig_E-set pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 29 0 0.00 23 7 23.33 GCC2 0 genome.wustl.edu 37 2 109106410 109106410 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 109106410 109106410 T A SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.4169 p.L1390Q 0.997 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 56 0 0.00 54 5 8.47 GCK 0 genome.wustl.edu 37 7 44187361 44187361 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 44187361 44187361 T G SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.754 p.M252L 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 tier1 - - 178 0 0.00 160 30 15.79 GCN1L1 0 genome.wustl.edu 37 12 120575734 120575734 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 120575734 120575734 C A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known nonsense c.6364 p.E2122* 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 74 0 0.00 47 28 36.84 GEMIN5 0 genome.wustl.edu 37 5 154304027 154304027 + Splice_Site SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 154304027 154304027 A T SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known splice_site c.1379+2 e9+2 1.000 - - - no_errors GEMIN5 HGNC ENSG00000082516 tier1 - - 346 0 0.00 216 118 35.33 GLG1 0 genome.wustl.edu 37 16 74496081 74496081 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 74496081 74496081 C G SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.2947 p.D983H 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 61 0 0.00 40 20 33.33 GLI3 0 genome.wustl.edu 37 7 42005538 42005538 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 42005538 42005538 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3133 p.V1045M 0.937 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 91 0 0.00 44 19 30.16 GRHL3 0 genome.wustl.edu 37 1 24669201 24669201 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 24669201 24669201 G A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.1224 p.M408I 1.000 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 tier1 - - 171 0 0.00 181 16 8.12 GRHL3 0 genome.wustl.edu 37 1 24669202 24669202 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 24669202 24669202 C A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.1225 p.R409S 1.000 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 tier1 - - 169 0 0.00 179 16 8.21 GRIK2 0 genome.wustl.edu 37 6 102307312 102307312 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 102307312 102307312 G T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.1468 p.A490S 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 - - 90 0 0.00 49 18 26.87 GRM2 0 genome.wustl.edu 37 3 51746896 51746896 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 51746896 51746896 T G SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.858 p.N286K 0.316 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 tier1 - - 123 0 0.00 71 26 26.80 GTF2I 0 genome.wustl.edu 37 7 74113412 74113412 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 74113412 74113412 C T SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known silent c.360 p.F120 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 tier1 - - 14 0 0.00 20 14 41.18 GTF3C4 0 genome.wustl.edu 37 9 135554539 135554539 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 135554539 135554539 A G SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known silent c.1533 p.Q511 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 tier1 rs151079441 - 129 0 0.00 169 60 26.20 GZMH 0 genome.wustl.edu 37 14 25077579 25077579 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 25077579 25077579 C T SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.95 p.R32H 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 tier1 - - 335 0 0.00 188 87 31.52 HEATR5B 0 genome.wustl.edu 37 2 37268331 37268331 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 37268331 37268331 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.2801 p.T934I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 88 0 0.00 69 32 31.68 HECW1 0 genome.wustl.edu 37 7 43477644 43477644 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 43477644 43477644 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.844 p.E282* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 146 0 0.00 97 72 42.60 HEPHL1 0 genome.wustl.edu 37 11 93797566 93797566 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 93797566 93797566 T A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.698 p.V233E 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 59 0 0.00 28 15 34.88 HFE2 0 genome.wustl.edu 37 1 145416671 145416671 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 145416671 145416671 C G SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.1016 p.T339S 0.000 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 tier1 - - 79 0 0.00 50 20 28.57 HIST1H2BL 0 genome.wustl.edu 37 6 27775671 27775671 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 27775671 27775671 G T SNP HIST1H2BL ENST00000377401 human ensembl 74_37 -1 known missense c.14 p.A5D 0.994 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 tier1 - - 149 0 0.00 65 44 40.37 HLA-A 0 genome.wustl.edu 37 6 29911196 29911196 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 29911196 29911196 G C SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.495 p.Q165H 0.997 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 rs199474539 - 65 0 0.00 49 5 9.26 HLA-A 0 genome.wustl.edu 37 6 29911198 29911198 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 29911198 29911198 T C SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.497 p.I166T 0.971 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 rs1059516 - 64 0 0.00 53 6 10.17 HLA-A 0 genome.wustl.edu 37 6 29911200 29911201 + Frame_Shift_Ins INS - - T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 29911200 29911201 - T INS HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_ins c.499_500 p.T167fs 0.991:0.993 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 64 0 0.00 54 6 10.00 HLA-A 0 genome.wustl.edu 37 6 29911227 29911227 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 29911227 29911227 G T SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known nonsense c.526 p.E176* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 rs1059537 - 71 0 0.00 52 19 26.76 HLA-C 0 genome.wustl.edu 37 6 31238916 31238916 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 31238916 31238916 C A SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known nonsense c.553 p.E185* 0.431 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 - - 105 0 0.00 100 15 13.04 HPS5 0 genome.wustl.edu 37 11 18308255 18308255 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 18308255 18308255 G A SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.2720 p.S907L 0.008 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 53 0 0.00 31 15 32.61 HRNR 0 genome.wustl.edu 37 1 152188847 152188847 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 152188847 152188847 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5258 p.V1753A 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs145667921 - 37 0 0.00 17 3 15.00 HSP90AB1 0 genome.wustl.edu 37 6 44220936 44220936 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 44220936 44220936 A T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1886 p.N629I 1.000 pfam_Hsp90_fam,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 tier1 - - 255 0 0.00 173 81 31.89 HYDIN 0 genome.wustl.edu 37 16 70891638 70891638 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 70891638 70891638 A C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.12265 p.S4089A 0.920 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 100 0 0.00 93 21 18.42 ICAM5 0 genome.wustl.edu 37 19 10402309 10402309 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 10402309 10402309 G T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.497 p.R166L 0.985 smart_Ig_sub,prints_ICAM_VCAM_N pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 99 0 0.00 70 41 36.94 IFNLR1 0 genome.wustl.edu 37 1 24486013 24486013 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 24486013 24486013 C T SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known silent c.621 p.P207 0.302 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 tier1 - - 127 0 0.00 76 30 28.30 IGBP1 0 genome.wustl.edu 37 X 69366608 69366608 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 69366608 69366608 T C SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known missense c.608 p.I203T 0.924 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 44 0 0.00 49 9 15.52 IL2RB 0 genome.wustl.edu 37 22 37539616 37539616 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 22 37539616 37539616 G C SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.148 p.Q50E 0.806 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 tier1 - - 143 0 0.00 93 32 25.60 IL4 0 genome.wustl.edu 37 5 132009878 132009878 + Splice_Site SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 132009878 132009878 G T SNP IL4 ENST00000231449 human ensembl 74_37 +1 known splice_site c.135+1 e1+1 0.988 - - - no_errors IL4 HGNC ENSG00000113520 tier1 - - 153 0 0.00 106 40 27.40 INO80D 0 genome.wustl.edu 37 2 206921058 206921058 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 206921058 206921058 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known silent c.828 p.D276 0.752 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 - - 84 0 0.00 40 25 38.46 INS-IGF2 0 genome.wustl.edu 37 11 2182157 2182157 + Silent SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 2182157 2182157 G T SNP INS-IGF2 ENST00000356578 human ensembl 74_37 -1 known silent c.45 p.A15 0.000 superfamily_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin - no_errors INS-IGF2 HGNC ENSG00000129965 tier1 - - 83 0 0.00 48 32 40.00 INSR 0 genome.wustl.edu 37 19 7117150 7117150 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 7117150 7117150 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.4066 p.E1356K 0.985 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 rs146490822 - 190 0 0.00 127 63 33.16 INSRR 0 genome.wustl.edu 37 1 156814270 156814270 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 156814270 156814270 G C SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.2721 p.F907L 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 tier1 - - 110 0 0.00 87 42 32.56 KCND2 0 genome.wustl.edu 37 7 119915218 119915218 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 119915218 119915218 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.532 p.P178S 1.000 prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 70 0 0.00 40 25 38.46 KCNG1 0 genome.wustl.edu 37 20 49621343 49621343 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 49621343 49621343 C A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.775 p.G259C 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 19 0 0.00 13 9 40.91 KCNK3 0 genome.wustl.edu 37 2 26915889 26915889 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 26915889 26915889 G A SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.146 p.R49Q 1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 tier1 - - 25 0 0.00 10 8 44.44 KCNMB3 0 genome.wustl.edu 37 3 178984437 178984437 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 178984437 178984437 C G SNP KCNMB3 ENST00000349697 human ensembl 74_37 -1 known missense c.62 p.R21T 1.000 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 tier1 - - 59 0 0.00 61 10 14.08 KIF22 0 genome.wustl.edu 37 16 29816274 29816274 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 29816274 29816274 G T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.1817 p.S606I 0.997 superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 115 0 0.00 68 30 30.61 KIRREL2 0 genome.wustl.edu 37 19 36357139 36357139 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 36357139 36357139 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known silent c.1872 p.F624 0.986 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 tier1 - - 166 0 0.00 82 37 30.83 KRT6B 0 genome.wustl.edu 37 12 52843273 52843273 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 52843273 52843273 C T SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.1057 p.E353K 0.996 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 tier1 - - 321 0 0.00 196 86 30.50 LAGE3 0 genome.wustl.edu 37 X 153706667 153706667 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 153706667 153706667 C G SNP LAGE3 ENST00000357360 human ensembl 74_37 -1 known missense c.272 p.R91T 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors LAGE3 HGNC ENSG00000196976 tier1 - - 93 0 0.00 30 90 75.00 LDB1 0 genome.wustl.edu 37 10 103869414 103869414 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 103869414 103869414 C T SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known silent c.675 p.Q225 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 tier1 - - 136 0 0.00 106 11 9.40 LHCGR 0 genome.wustl.edu 37 2 48915642 48915642 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 48915642 48915642 C G SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1294 p.D432H 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 73 0 0.00 51 21 29.17 LHFPL3 0 genome.wustl.edu 37 7 103969565 103969565 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 103969565 103969565 G C SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.338 p.G113A 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 tier1 - - 168 0 0.00 107 51 32.08 LOC100131347 0 genome.wustl.edu 37 17 37264223 37264223 + RNA SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 37264223 37264223 C G SNP LOC100131347 ENST00000578423 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 tier1 - - 27 0 0.00 15 7 31.82 LOC440040 0 genome.wustl.edu 37 11 49831405 49831405 + RNA SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 49831405 49831405 C A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 52 0 0.00 37 22 37.29 LRRC16B 0 genome.wustl.edu 37 14 24535792 24535792 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 24535792 24535792 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.3609 p.K1203 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 139 0 0.00 74 45 37.50 LRRC23 0 genome.wustl.edu 37 12 7022359 7022360 + RNA INS - - G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 7022359 7022360 - G INS LRRC23 ENST00000472633 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC23 HGNC ENSG00000010626 tier1 9 0 0.00 4 6 60.00 LRRN3 0 genome.wustl.edu 37 7 110764569 110764569 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 110764569 110764569 A T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1741 p.T581S 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 69 0 0.00 36 17 32.08 LYZL6 0 genome.wustl.edu 37 17 34266318 34266318 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 34266318 34266318 C T SNP LYZL6 ENST00000293274 human ensembl 74_37 -1 known missense c.43 p.A15T 0.000 NULL pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL6 HGNC ENSG00000161572 tier1 - - 164 0 0.00 122 65 34.76 LZTS3 0 genome.wustl.edu 37 20 3145759 3145759 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 3145759 3145759 G C SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1363 p.Q455E 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 13 0 0.00 14 3 17.65 MALAT1 0 genome.wustl.edu 37 11 65270449 65270449 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 65270449 65270449 G A SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 16 0 0.00 9 7 43.75 MAP2 0 genome.wustl.edu 37 2 210574917 210574917 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 210574917 210574917 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.5012 p.K1671T 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 25 0 0.00 16 5 23.81 MAST2 0 genome.wustl.edu 37 1 46496357 46496357 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 46496357 46496357 G T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known nonsense c.2632 p.E878* 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 37 0 0.00 14 16 53.33 MCM8 0 genome.wustl.edu 37 20 5935803 5935803 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 5935803 5935803 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.392 p.G131D 0.716 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 tier1 rs138393496 - 78 0 0.00 47 18 27.69 MCMDC2 0 genome.wustl.edu 37 8 67813523 67813523 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 67813523 67813523 G A SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1709 p.R570H 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 tier1 rs142450719 - 88 0 0.00 59 12 16.90 ME1 0 genome.wustl.edu 37 6 83926271 83926271 + Silent SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 83926271 83926271 C A SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1494 p.R498 0.723 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 tier1 - - 157 0 0.00 108 41 27.52 ME1 0 genome.wustl.edu 37 6 83926280 83926280 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 83926280 83926280 T C SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1485 p.E495 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 ME1 HGNC ENSG00000065833 tier1 - - 152 0 0.00 108 39 26.53 MED17 0 genome.wustl.edu 37 11 93523876 93523876 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 93523876 93523876 C T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.554 p.S185F 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 tier1 - - 162 0 0.00 119 48 28.74 MFSD8 0 genome.wustl.edu 37 4 128865029 128865029 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 128865029 128865029 G C SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known missense c.317 p.P106R 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 tier1 - - 167 0 0.00 99 48 32.65 MFSD9 0 genome.wustl.edu 37 2 103343411 103343411 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 103343411 103343411 C A SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known missense c.320 p.G107V 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 tier1 - - 99 0 0.00 76 8 9.52 MICAL2 0 genome.wustl.edu 37 11 12234898 12234898 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 12234898 12234898 T C SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.788 p.I263T 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 273 0 0.00 193 80 29.30 MKI67 0 genome.wustl.edu 37 10 129899748 129899748 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 129899748 129899748 C G SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.9479 p.R3160T 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 211 0 0.00 214 137 39.03 MKRN3 0 genome.wustl.edu 37 15 23812252 23812252 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 23812252 23812252 C T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known silent c.1323 p.Y441 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 109 0 0.00 72 35 32.71 MMEL1 0 genome.wustl.edu 37 1 2527503 2527503 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 2527503 2527503 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.879 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 tier1 - - 298 0 0.00 213 111 34.26 MRAS 0 genome.wustl.edu 37 3 138121080 138121080 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 138121080 138121080 G A SNP MRAS ENST00000289104 human ensembl 74_37 +1 known missense c.596 p.G199D 0.399 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 tier1 - - 92 0 0.00 110 15 12.00 MROH7 0 genome.wustl.edu 37 1 55175737 55175737 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55175737 55175737 G C SNP MROH7 ENST00000421030 human ensembl 74_37 +1 known missense c.3849 p.W1283C 0.250 NULL superfamily_ARM-type_fold - no_errors MROH7 HGNC ENSG00000184313 tier1 - - 45 0 0.00 43 18 29.51 MSANTD1 0 genome.wustl.edu 37 4 3251139 3251139 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 3251139 3251139 G A SNP MSANTD1 ENST00000438480 human ensembl 74_37 +1 known missense c.190 p.E64K 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 tier1 - - 19 0 0.00 17 4 19.05 MUC16 0 genome.wustl.edu 37 19 9075305 9075305 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 9075305 9075305 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.12141 p.P4047 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 248 0 0.00 150 75 33.33 MUC5AC 0 genome.wustl.edu 37 11 1213102 1213102 + RNA SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 1213102 1213102 A G SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 201 0 0.00 188 10 5.00 MYBPC3 0 genome.wustl.edu 37 11 47354132 47354132 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 47354132 47354132 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.3612 p.V1204 0.973 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 102 0 0.00 80 19 19.19 MYO10 0 genome.wustl.edu 37 5 16681456 16681456 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 16681456 16681456 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.4346 p.S1449F 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 tier1 - - 117 0 0.00 64 32 33.33 MYO15A 0 genome.wustl.edu 37 17 18022927 18022927 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 18022927 18022927 G C SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.813 p.W271C 0.988 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 102 0 0.00 63 21 25.00 MYT1 0 genome.wustl.edu 37 20 62851073 62851073 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 62851073 62851073 A T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2060 p.D687V 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 116 0 0.00 102 9 8.11 NCAN 0 genome.wustl.edu 37 19 19337345 19337345 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 19337345 19337345 G C SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.1123 p.D375H 0.997 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 - - 114 0 0.00 84 26 23.64 NCDN 0 genome.wustl.edu 37 1 36028227 36028227 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 36028227 36028227 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1378 p.A460T 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 - - 49 0 0.00 24 12 32.43 NCF4 0 genome.wustl.edu 37 22 37271939 37271939 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 22 37271939 37271939 C G SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known missense c.872 p.S291C 0.000 NULL pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 106 0 0.00 80 47 37.01 NDOR1 0 genome.wustl.edu 37 9 140100297 140100297 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 140100297 140100297 G C SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known missense c.68 p.R23T 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 tier1 - - 77 0 0.00 79 28 26.17 NDST1 0 genome.wustl.edu 37 5 149901049 149901049 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 149901049 149901049 C A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.233 p.P78H 0.946 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 117 0 0.00 73 47 39.17 NEO1 0 genome.wustl.edu 37 15 73408892 73408892 + Nonsense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 73408892 73408892 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.142 p.R48* 0.914 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 109 0 0.00 31 20 39.22 NETO2 0 genome.wustl.edu 37 16 47162251 47162251 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 47162251 47162251 A G SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.466 p.Y156H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 tier1 - - 133 0 0.00 74 48 39.34 NEURL2 0 genome.wustl.edu 37 20 44519208 44519208 + Silent SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 44519208 44519208 G C SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known silent c.423 p.L141 0.993 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 tier1 - - 109 0 0.00 138 29 17.37 NLRP3 0 genome.wustl.edu 37 1 247588068 247588068 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 247588068 247588068 G A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.1323 p.A441 0.009 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 rs201976178 - 81 0 0.00 53 19 26.39 NOBOX 0 genome.wustl.edu 37 7 144098375 144098375 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 144098375 144098375 G A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.608 p.P203L 0.011 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 tier1 - - 36 0 0.00 17 12 41.38 NPAS1 0 genome.wustl.edu 37 19 47542712 47542712 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 47542712 47542712 G A SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.852 p.V284 0.999 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 tier1 - - 106 0 0.00 82 37 31.09 NPNT 0 genome.wustl.edu 37 4 106879639 106879639 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 106879639 106879639 C A SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.1171 p.P391T 1.000 NULL pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 tier1 - - 49 0 0.00 46 18 28.12 NPPB 0 genome.wustl.edu 37 1 11918304 11918304 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 11918304 11918304 G A SNP NPPB ENST00000376468 human ensembl 74_37 -1 known missense c.355 p.R119W 0.997 pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain - no_errors NPPB HGNC ENSG00000120937 tier1 - - 91 0 0.00 49 20 28.99 NRG2 0 genome.wustl.edu 37 5 139232604 139232604 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 139232604 139232604 C T SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.1307 p.R436Q 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 tier1 - - 185 0 0.00 111 47 29.75 NTNG2 0 genome.wustl.edu 37 9 135073526 135073526 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 135073526 135073526 G C SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.387 p.K129N 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 tier1 - - 102 0 0.00 85 64 42.95 OBSCN 0 genome.wustl.edu 37 1 228481237 228481237 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 228481237 228481237 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11051 p.R3684H 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 164 0 0.00 93 39 29.55 OPLAH 0 genome.wustl.edu 37 8 145112528 145112528 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 145112528 145112528 G C SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1245 p.N415K 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 53 0 0.00 27 13 32.50 OR10K1 0 genome.wustl.edu 37 1 158435501 158435501 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 158435501 158435501 G A SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.150 p.V50 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 - - 235 0 0.00 129 59 31.38 OR14K1 0 genome.wustl.edu 37 1 247902707 247902707 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 247902707 247902707 C A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.791 p.A264E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 78 0 0.00 30 19 38.78 OR1B1 0 genome.wustl.edu 37 9 125391331 125391331 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 125391331 125391331 C T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.484 p.V162M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 tier1 - - 58 0 0.00 58 13 18.31 OR2Z1 0 genome.wustl.edu 37 19 8841637 8841637 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 8841637 8841637 T C SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.247 p.S83P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 tier1 - - 117 0 0.00 65 47 41.96 OR56A1 0 genome.wustl.edu 37 11 6048178 6048178 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 6048178 6048178 T A SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.757 p.I253F 0.141 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 tier1 - - 97 0 0.00 65 17 20.73 OR5H14 0 genome.wustl.edu 37 3 97868957 97868957 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 97868957 97868957 C A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.728 p.A243D 0.467 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 47 0 0.00 33 11 25.00 OVCH1 0 genome.wustl.edu 37 12 29630148 29630148 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 29630148 29630148 G C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.1264 p.L422V 0.024 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 68 0 0.00 49 27 35.53 OXER1 0 genome.wustl.edu 37 2 42990074 42990074 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 42990074 42990074 C T SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known missense c.1246 p.E416K 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 tier1 - - 216 0 0.00 133 56 29.63 PABPN1 0 genome.wustl.edu 37 14 23792277 23792277 + Splice_Site SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 23792277 23792277 T C SNP PABPN1 ENST00000216727 human ensembl 74_37 +1 known splice_site c.534+2 e3+2 1.000 - - - no_errors PABPN1 HGNC ENSG00000100836 tier1 - - 159 0 0.00 93 54 36.73 PARP10 0 genome.wustl.edu 37 8 145059981 145059981 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 145059981 145059981 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.344 p.A115V 0.014 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 - - 88 0 0.00 67 29 30.21 PARP2 0 genome.wustl.edu 37 14 20820433 20820433 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 20820433 20820433 A G SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.566 p.E189G 0.957 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 tier1 - - 125 0 0.00 63 23 26.74 PCDH12 0 genome.wustl.edu 37 5 141336048 141336048 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 141336048 141336048 C A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.1369 p.A457S 0.755 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 - - 190 0 0.00 106 51 32.48 PCDH18 0 genome.wustl.edu 37 4 138450910 138450910 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 138450910 138450910 G A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2333 p.S778F 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 74 0 0.00 42 10 19.23 PCDHGA12 0 genome.wustl.edu 37 5 140811832 140811832 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 140811832 140811832 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1506 p.S502 0.962 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 163 0 0.00 98 50 33.56 PCOLCE 0 genome.wustl.edu 37 7 100203265 100203265 + RNA SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 100203265 100203265 C G SNP PCOLCE ENST00000486440 human ensembl 74_37 +1 known rna NULL NULL 0.570 - - - no_errors PCOLCE HGNC ENSG00000106333 tier1 - - 17 0 0.00 6 8 57.14 PDE1C 0 genome.wustl.edu 37 7 31920365 31920365 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 31920365 31920365 T C SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.237 p.E79 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 104 0 0.00 58 36 38.30 PELP1 0 genome.wustl.edu 37 17 4575317 4575317 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 4575317 4575317 T A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.3401 p.E1134V 0.046 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 tier1 - - 24 0 0.00 15 6 28.57 PGD 0 genome.wustl.edu 37 1 10479840 10479840 + RNA SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 10479840 10479840 A C SNP PGD ENST00000498356 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors PGD HGNC ENSG00000142657 tier1 - - 171 0 0.00 116 50 30.12 PHF15 0 genome.wustl.edu 37 5 133914666 133914666 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 133914666 133914666 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.2032 p.P678S 0.026 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 tier1 - - 317 0 0.00 215 134 38.29 PHLDA3 0 genome.wustl.edu 37 1 201437501 201437501 + RNA SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 201437501 201437501 G C SNP PHLDA3 ENST00000485436 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PHLDA3 HGNC ENSG00000174307 tier1 - - 137 0 0.00 57 26 31.33 PI16 0 genome.wustl.edu 37 6 36930864 36930864 + Nonsense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 36930864 36930864 C G SNP PI16 ENST00000373674 human ensembl 74_37 +1 known nonsense c.746 p.S249* 0.257 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 tier1 - - 252 0 0.00 160 68 29.82 PIK3CA 0 genome.wustl.edu 37 3 178927451 178927451 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 178927451 178927451 C T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1214 p.S405F 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 171 0 0.00 204 36 15.00 PKD2 0 genome.wustl.edu 37 4 88940704 88940704 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 88940704 88940704 T A SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known missense c.690 p.F230L 0.963 prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 - - 53 0 0.00 36 28 43.75 PKP1 0 genome.wustl.edu 37 1 201294102 201294103 + Frame_Shift_Ins INS - - C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 201294102 201294103 - C INS PKP1 ENST00000263946 human ensembl 74_37 +1 known frame_shift_ins c.1931_1932 p.T645fs 1.000:1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 tier1 440 0 0.00 249 32 11.39 PKP2 0 genome.wustl.edu 37 12 32996166 32996166 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 32996166 32996166 T C SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.1460 p.Q487R 0.004 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 39 0 0.00 26 9 25.71 PLAG1 0 genome.wustl.edu 37 8 57079526 57079526 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 57079526 57079526 A G SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.779 p.V260A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 tier1 - - 244 0 0.00 155 58 27.23 PMPCA 0 genome.wustl.edu 37 9 139305141 139305141 + Silent SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 139305141 139305141 G C SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known silent c.21 p.A7 0.001 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 tier1 - - 51 0 0.00 55 9 14.06 PNLIPRP2 0 genome.wustl.edu 37 10 118397924 118397924 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 118397924 118397924 G T SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known missense c.1108 p.V370L 0.000 pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 tier1 - - 15 0 0.00 7 5 41.67 PPARGC1B 0 genome.wustl.edu 37 5 149215999 149215999 + Nonsense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 149215999 149215999 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known nonsense c.1981 p.R661* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 tier1 - - 195 0 0.00 107 58 35.15 PPIB 0 genome.wustl.edu 37 15 64455190 64455190 + RNA SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 64455190 64455190 A G SNP PPIB ENST00000558492 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors PPIB HGNC ENSG00000166794 tier1 - - 52 0 0.00 32 7 17.95 PRAMEF5 0 genome.wustl.edu 37 1 13366043 13366043 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 13366043 13366043 T C SNP PRAMEF5 ENST00000376168 human ensembl 74_37 +1 known missense c.487 p.Y163H 0.002 NULL NULL - no_errors PRAMEF5 HGNC ENSG00000204502 tier1 - - 17 0 0.00 2 2 50.00 PRDM9 0 genome.wustl.edu 37 5 23509151 23509151 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 23509151 23509151 T C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.9 p.P3 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 47 0 0.00 39 10 20.41 PRRC2A 0 genome.wustl.edu 37 6 31594956 31594956 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 31594956 31594956 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1271 p.G424V 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 49 0 0.00 29 19 39.58 PRSS3 0 genome.wustl.edu 37 9 33798518 33798518 + Silent SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 33798518 33798518 T G SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known silent c.660 p.A220 0.992 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 tier1 - - 208 0 0.00 120 81 40.30 PSMG1 0 genome.wustl.edu 37 21 40550456 40550456 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 40550456 40550456 G T SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known missense c.574 p.L192I 0.978 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 tier1 - - 163 0 0.00 105 47 30.92 PTCHD3 0 genome.wustl.edu 37 10 27687309 27687309 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 27687309 27687309 A G SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.2218 p.S740P 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 43 0 0.00 30 17 36.17 PTPRG-AS1 0 genome.wustl.edu 37 3 62278384 62278384 + RNA SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 62278384 62278384 G T SNP PTPRG-AS1 ENST00000475371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTPRG-AS1 HGNC ENSG00000241472 tier1 - - 13 0 0.00 8 4 33.33 PTX4 0 genome.wustl.edu 37 16 1536494 1536494 + Nonsense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 1536494 1536494 G A SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known nonsense c.883 p.R295* 0.886 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 tier1 - - 112 0 0.00 81 7 7.95 RABGGTB 0 genome.wustl.edu 37 1 76257209 76257209 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 76257209 76257209 G A SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known missense c.532 p.D178N 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 tier1 - - 234 0 0.00 112 68 37.57 RANBP6 0 genome.wustl.edu 37 9 6012549 6012549 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 6012549 6012549 G A SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.3059 p.T1020I 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 - - 87 0 0.00 60 21 25.93 RASAL1 0 genome.wustl.edu 37 12 113553490 113553490 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 113553490 113553490 A G SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.953 p.L318P 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 tier1 - - 73 0 0.00 36 24 40.00 RC3H2 0 genome.wustl.edu 37 9 125659751 125659751 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 125659751 125659751 G A SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.38 p.S13F 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 31 0 0.00 24 9 27.27 RFX2 0 genome.wustl.edu 37 19 6001988 6001988 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 6001988 6001988 C T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1697 p.R566Q 0.999 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 158 0 0.00 93 40 30.08 RGS9 0 genome.wustl.edu 37 17 63200400 63200400 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 63200400 63200400 T C SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1184 p.I395T 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 tier1 - - 62 0 0.00 95 20 17.39 RIMS1 0 genome.wustl.edu 37 6 73023357 73023357 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 73023357 73023357 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4112 p.R1371H 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 30 0 0.00 11 9 45.00 ROBO3 0 genome.wustl.edu 37 11 124748251 124748251 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 124748251 124748251 A G SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.3239 p.N1080S 0.991 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 32 0 0.00 14 11 44.00 ROR2 0 genome.wustl.edu 37 9 94487112 94487112 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 94487112 94487112 T C SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1664 p.Y555C 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 82 0 0.00 78 14 15.22 RPGRIP1L 0 genome.wustl.edu 37 16 53679591 53679591 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 53679591 53679591 T A SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2629 p.I877L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 tier1 - - 60 0 0.00 42 21 33.33 RTN1 0 genome.wustl.edu 37 14 60069958 60069958 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 60069958 60069958 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.2201 p.T734I 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 42 0 0.00 28 15 34.88 RTN3 0 genome.wustl.edu 37 11 63520546 63520546 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 63520546 63520546 T C SNP RTN3 ENST00000536011 human ensembl 74_37 +1 known missense c.356 p.L119P 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 - - 335 0 0.00 242 102 29.65 SAP18 0 genome.wustl.edu 37 13 21715266 21715266 + RNA SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 13 21715266 21715266 T C SNP SAP18 ENST00000485646 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SAP18 HGNC ENSG00000150459 tier1 - - 8 0 0.00 3 7 70.00 SCG5 0 genome.wustl.edu 37 15 32972071 32972071 + Nonsense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 32972071 32972071 C T SNP SCG5 ENST00000300175 human ensembl 74_37 +1 known nonsense c.331 p.Q111* 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 tier1 - - 245 0 0.00 141 97 40.76 SDK1 0 genome.wustl.edu 37 7 4116752 4116752 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 4116752 4116752 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3133 p.V1045M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 70 0 0.00 46 18 28.12 SEC61A1 0 genome.wustl.edu 37 3 127786365 127786365 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 127786365 127786365 C G SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.1077 p.V359 0.990 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 174 0 0.00 108 56 34.15 SEMA6B 0 genome.wustl.edu 37 19 4555047 4555047 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 4555047 4555047 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 tier1 - - 153 0 0.00 99 48 32.65 SERPINA11 0 genome.wustl.edu 37 14 94914550 94914550 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 94914550 94914550 T A SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.562 p.T188S 0.985 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 tier1 - - 243 0 0.00 57 64 52.89 SFMBT2 0 genome.wustl.edu 37 10 7205858 7205858 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 7205858 7205858 T G SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2559 p.Q853H 1.000 pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 74 0 0.00 49 19 27.94 SGPP1 0 genome.wustl.edu 37 14 64194101 64194101 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 64194101 64194101 A C SNP SGPP1 ENST00000247225 human ensembl 74_37 -1 known missense c.562 p.S188A 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 tier1 - - 204 0 0.00 103 36 25.90 SHC1 0 genome.wustl.edu 37 1 154938889 154938890 + Frame_Shift_Ins INS - - C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 154938889 154938890 - C INS SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_ins c.1088_1087 p.V363fs 0.985:0.930 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 tier1 42 0 0.00 32 3 8.57 SLC13A3 0 genome.wustl.edu 37 20 45212173 45212173 + RNA SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 45212173 45212173 C A SNP SLC13A3 ENST00000464518 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC13A3 HGNC ENSG00000158296 tier1 - - 83 0 0.00 78 6 7.14 SLC17A4 0 genome.wustl.edu 37 6 25769257 25769257 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 25769257 25769257 T A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.136 p.C46S 0.964 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 85 0 0.00 64 21 24.71 SLC17A4 0 genome.wustl.edu 37 6 25769258 25769258 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 25769258 25769258 G T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.137 p.C46F 0.992 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 84 0 0.00 63 21 25.00 SLC4A4 0 genome.wustl.edu 37 4 72429557 72429557 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 72429557 72429557 G A SNP SLC4A4 ENST00000264485 human ensembl 74_37 +1 known missense c.3147 p.M1049I 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 178 0 0.00 117 53 31.18 SLC8A1 0 genome.wustl.edu 37 2 40657254 40657254 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 40657254 40657254 T G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.167 p.K56T 1.000 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 169 0 0.00 82 45 35.43 SMARCA2 0 genome.wustl.edu 37 9 2161782 2161782 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 2161782 2161782 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4078 p.D1360N 1.000 superfamily_Bromodomain,superfamily_RNaseH-like_dom pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 75 0 0.00 54 22 28.95 SNORD115-48 0 genome.wustl.edu 37 15 25514970 25514970 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 25514970 25514970 G A SNP SNORD115-48 ENST00000364764 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-48 HGNC ENSG00000201634 tier1 - - 64 0 0.00 52 19 26.76 SPAM1 0 genome.wustl.edu 37 7 123594238 123594238 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 123594238 123594238 A T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.614 p.K205I 0.488 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 tier1 - - 122 0 0.00 69 42 37.84 SPATA21 0 genome.wustl.edu 37 1 16727329 16727329 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 16727329 16727329 C T SNP SPATA21 ENST00000335496 human ensembl 74_37 -1 known missense c.1060 p.V354I 0.013 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SPATA21 HGNC ENSG00000187144 tier1 rs140765732 - 312 0 0.00 207 93 31.00 SPINK4 0 genome.wustl.edu 37 9 33221060 33221060 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 33221060 33221060 G A SNP SPINK4 ENST00000379723 human ensembl 74_37 +1 known silent c.84 p.S28 0.000 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 tier1 - - 66 0 0.00 38 19 33.33 SPTAN1 0 genome.wustl.edu 37 9 131380016 131380016 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 131380016 131380016 G C SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.5455 p.A1819P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 121 0 0.00 79 61 43.57 SSMEM1 0 genome.wustl.edu 37 7 129847885 129847885 + Nonsense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 129847885 129847885 T A SNP SSMEM1 ENST00000297819 human ensembl 74_37 +1 known nonsense c.135 p.Y45* 1.000 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 tier1 - - 159 0 0.00 97 49 33.56 STAC3 0 genome.wustl.edu 37 12 57642901 57642901 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 57642901 57642901 T C SNP STAC3 ENST00000332782 human ensembl 74_37 -1 known missense c.257 p.N86S 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 tier1 - - 97 0 0.00 76 27 26.21 STYK1 0 genome.wustl.edu 37 12 10777274 10777274 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 10777274 10777274 C G SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.902 p.R301T 0.995 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 tier1 - - 257 0 0.00 138 57 29.23 TAS1R2 0 genome.wustl.edu 37 1 19184054 19184054 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19184054 19184054 T G SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.254 p.D85A 0.001 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 102 0 0.00 66 33 33.33 TERT 0 genome.wustl.edu 37 5 1282621 1282621 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 1282621 1282621 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.1692 p.T564 0.895 pfam_Telomerase_RBD,smart_Telomerase_RBD,prints_Telomerase_RT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 108 0 0.00 65 48 42.48 TEX2 0 genome.wustl.edu 37 17 62271199 62271199 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 62271199 62271199 C A SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.1896 p.K632N 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 tier1 - - 124 0 0.00 180 21 10.40 TIGD4 0 genome.wustl.edu 37 4 153690957 153690957 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 153690957 153690957 C G SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.1200 p.L400F 0.916 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 tier1 - - 105 0 0.00 64 49 43.36 TNIK 0 genome.wustl.edu 37 3 170912388 170912388 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 170912388 170912388 C T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.343 p.D115N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 tier1 - - 217 0 0.00 204 56 21.46 TPTE 0 genome.wustl.edu 37 21 10934967 10934967 + Nonsense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 10934967 10934967 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known nonsense c.826 p.R276* 0.629 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 171 0 0.00 152 17 10.06 TRERF1 0 genome.wustl.edu 37 6 42227417 42227417 + Frame_Shift_Del DEL C C - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 42227417 42227417 C - DEL TRERF1 ENST00000541110 human ensembl 74_37 -1 known frame_shift_del c.1989 p.E663fs 0.977 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 227 0 0.00 136 52 27.66 TRIO 0 genome.wustl.edu 37 5 14488285 14488285 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 14488285 14488285 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.7548 p.H2516 0.999 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 23 0 0.00 23 14 37.84 TRPM8 0 genome.wustl.edu 37 2 234854619 234854619 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 234854619 234854619 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.819 p.V273 0.002 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 rs200501002 - 127 0 0.00 93 34 26.77 TSSK4 0 genome.wustl.edu 37 14 24676673 24676673 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 24676673 24676673 G T SNP TSSK4 ENST00000339917 human ensembl 74_37 +1 known missense c.792 p.E264D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK4 HGNC ENSG00000139908 tier1 - - 123 0 0.00 82 33 28.70 TTC21A 0 genome.wustl.edu 37 3 39174717 39174717 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 39174717 39174717 C G SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.2761 p.P921A 0.845 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 84 0 0.00 34 15 30.61 TTC21B 0 genome.wustl.edu 37 2 166747428 166747428 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 166747428 166747428 T C SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known silent c.3021 p.R1007 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 56 0 0.00 51 19 27.14 TTC39C 0 genome.wustl.edu 37 18 21703872 21703872 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 18 21703872 21703872 A G SNP TTC39C ENST00000317571 human ensembl 74_37 +1 known missense c.1261 p.K421E 1.000 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 tier1 - - 56 0 0.00 50 14 21.88 TUBAL3 0 genome.wustl.edu 37 10 5436181 5436181 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 5436181 5436181 C A SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known nonsense c.640 p.E214* 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 tier1 - - 106 0 0.00 53 25 32.05 USP24 0 genome.wustl.edu 37 1 55603306 55603306 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55603306 55603306 T A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.2603 p.Q868L 0.997 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 32 0 0.00 22 12 35.29 USP24 0 genome.wustl.edu 37 1 55603307 55603307 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55603307 55603307 G T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.2602 p.Q868K 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 32 0 0.00 21 12 36.36 VEPH1 0 genome.wustl.edu 37 3 157146233 157146233 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 157146233 157146233 G T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.574 p.Q192K 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 - - 100 0 0.00 100 24 19.35 VPS13C 0 genome.wustl.edu 37 15 62264958 62264958 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 62264958 62264958 C G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.2623 p.D875H 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 93 0 0.00 61 31 33.70 WDR33 0 genome.wustl.edu 37 2 128467158 128467158 + Splice_Site SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 128467158 128467158 T A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known splice_site c.3473-2 e19-2 0.953 - - - no_errors WDR33 HGNC ENSG00000136709 tier1 - - 139 0 0.00 92 49 34.75 WDR60 0 genome.wustl.edu 37 7 158664001 158664001 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 158664001 158664001 C G SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.238 p.P80A 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 - - 13 0 0.00 3 4 57.14 WDR90 0 genome.wustl.edu 37 16 716275 716275 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 716275 716275 C T SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known silent c.462 p.C154 0.019 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 - - 145 0 0.00 36 32 47.06 XIRP2 0 genome.wustl.edu 37 2 168100398 168100398 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 168100398 168100398 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.2496 p.K832 0.111 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 159 0 0.00 97 50 34.01 XIRP2 0 genome.wustl.edu 37 2 168108443 168108443 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 168108443 168108443 C G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10541 p.S3514C 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 116 0 0.00 52 21 28.77 XRCC3 0 genome.wustl.edu 37 14 104165811 104165811 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 104165811 104165811 C G SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known missense c.664 p.E222Q 1.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 tier1 - - 125 0 0.00 47 40 45.98 ZFHX4 0 genome.wustl.edu 37 8 77764760 77764760 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 77764760 77764760 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5603 p.P1868L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 26 0 0.00 16 5 23.81 ZNF585A 0 genome.wustl.edu 37 19 37643698 37643698 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 37643698 37643698 T A SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.1103 p.E368V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 tier1 - - 123 0 0.00 86 24 21.82 ZNF624 0 genome.wustl.edu 37 17 16526673 16526673 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 16526673 16526673 G C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.1527 p.F509L 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF624 HGNC ENSG00000197566 tier1 - - 91 0 0.00 60 24 28.57 ZNF675 0 genome.wustl.edu 37 19 23836771 23836771 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 23836771 23836771 T G SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.964 p.T322P 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 tier1 - - 58 0 0.00 69 17 19.54 ZNF676 0 genome.wustl.edu 37 19 22363387 22363387 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 22363387 22363387 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1132 p.S378P 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 110 0 0.00 66 24 26.67 ZSCAN10 0 genome.wustl.edu 37 16 3139315 3139315 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 3139315 3139315 C T SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1955 p.R652Q 0.989 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 tier1 - - 78 0 0.00 59 16 21.33 ADORA3 0 genome.wustl.edu 37 1 112042829 112042829 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 112042829 112042829 G A SNP ADORA3 ENST00000241356 human ensembl 74_37 -1 known silent c.700 p.L234 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA3 HGNC ENSG00000121933 100 0 0 54 27 33.3333 NPPB 0 genome.wustl.edu 37 1 11918304 11918304 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 11918304 11918304 G A SNP NPPB ENST00000376468 human ensembl 74_37 -1 known missense c.355 p.R119W 0.997 pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain - no_errors NPPB HGNC ENSG00000120937 77 0 0 41 20 32.7869 NBPF10 0 genome.wustl.edu 37 1 145293555 145293555 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 145293555 145293555 C A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.150 p.F50L 0.107 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 492 0 0 498 43 7.94824 HFE2 0 genome.wustl.edu 37 1 145416671 145416671 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 145416671 145416671 C G SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.1016 p.T339S 0.000 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 73 0 0 49 19 27.9412 CRCT1 0 genome.wustl.edu 37 1 152488000 152488000 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 152488000 152488000 C G SNP CRCT1 ENST00000368790 human ensembl 74_37 +1 known missense c.141 p.C47W 0.229 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 26 0 0 16 9 36 INSRR 0 genome.wustl.edu 37 1 156814270 156814270 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 156814270 156814270 G C SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.2721 p.F907L 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 95 0 0 74 33 30.8411 COPA 0 genome.wustl.edu 37 1 160267152 160267152 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 160267152 160267152 G C SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2271 p.I757M 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 167 0 0 115 52 31.1377 SPATA21 0 genome.wustl.edu 37 1 16727329 16727329 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 16727329 16727329 C T SNP SPATA21 ENST00000335496 human ensembl 74_37 -1 known missense c.1060 p.V354I 0.013 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SPATA21 HGNC ENSG00000187144 270 0 0 191 81 29.7794 CROCCP2 0 genome.wustl.edu 37 1 16952885 16952885 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 16952885 16952885 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 176 0 0 176 16 8.33333 DHX9 0 genome.wustl.edu 37 1 182844052 182844052 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 182844052 182844052 A G SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1778 p.K593R 1.000 superfamily_P-loop_NTPase pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 101 0 0 51 30 37.037 TAS1R2 0 genome.wustl.edu 37 1 19184054 19184054 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19184054 19184054 T G SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.254 p.D85A 0.001 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 97 0 0 59 28 32.1839 GABRD 0 genome.wustl.edu 37 1 1960679 1960679 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 1960679 1960679 C T SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.821 p.A274V 0.996 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 9 0 0 5 7 58.3333 AKR7A3 0 genome.wustl.edu 37 1 19612726 19612726 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19612726 19612726 T C SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.355 p.T119A 0.990 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 114 0 0 70 4 5.40541 AKR7A3 0 genome.wustl.edu 37 1 19612803 19612803 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19612803 19612803 A G SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.278 p.F93S 0.516 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 190 0 0 114 24 17.3913 AKR7A3 0 genome.wustl.edu 37 1 19612805 19612805 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 19612805 19612805 C T SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known silent c.276 p.R92 0.850 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 191 0 0 114 24 17.3913 DISP1 0 genome.wustl.edu 37 1 223176822 223176822 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 223176822 223176822 C G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2083 p.L695V 0.028 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 150 0 0 89 47 34.5588 OBSCN 0 genome.wustl.edu 37 1 228481237 228481237 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 228481237 228481237 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11051 p.R3684H 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 154 0 0 86 37 30.0813 FH 0 genome.wustl.edu 37 1 241667375 241667375 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 241667375 241667375 G C SNP FH ENST00000366560 human ensembl 74_37 -1 known missense c.1075 p.P359A 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Fumarate_lyase_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 57 0 0 23 11 32.3529 IFNLR1 0 genome.wustl.edu 37 1 24486013 24486013 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 24486013 24486013 C T SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known silent c.621 p.P207 0.302 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 115 0 0 64 27 29.6703 GRHL3 0 genome.wustl.edu 37 1 24669202 24669202 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 24669202 24669202 C A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.1225 p.R409S 1.000 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 151 0 0 157 13 7.64706 NLRP3 0 genome.wustl.edu 37 1 247588068 247588068 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 247588068 247588068 G A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.1323 p.A441 0.009 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 76 0 0 47 18 27.6923 OR14K1 0 genome.wustl.edu 37 1 247902707 247902707 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 247902707 247902707 C A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.791 p.A264E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 71 0 0 28 17 37.7778 MMEL1 0 genome.wustl.edu 37 1 2527503 2527503 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 2527503 2527503 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.879 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 255 0 0 178 94 34.5588 EXTL1 0 genome.wustl.edu 37 1 26356983 26356983 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 26356983 26356983 A T SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.998 p.Q333L 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 141 0 0 85 40 32 CEP85 0 genome.wustl.edu 37 1 26597570 26597570 + Nonsense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 26597570 26597570 G A SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known nonsense c.1715 p.W572* 0.938 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 67 0 0 36 22 37.931 ARID1A 0 genome.wustl.edu 37 1 27100151 27100151 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 27100151 27100151 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.3947 p.S1316* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 148 0 0 50 86 63.2353 AHDC1 0 genome.wustl.edu 37 1 27875278 27875278 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 27875278 27875278 G C SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.3349 p.L1117V 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 160 0 0 100 44 30.5556 NCDN 0 genome.wustl.edu 37 1 36028227 36028227 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 36028227 36028227 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1378 p.A460T 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 43 0 0 20 12 37.5 MAST2 0 genome.wustl.edu 37 1 46496357 46496357 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 46496357 46496357 G T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known nonsense c.2632 p.E878* 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 33 0 0 14 15 51.7241 ACOT11 0 genome.wustl.edu 37 1 55070856 55070856 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55070856 55070856 G C SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.1344 p.Q448H 0.993 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 76 0 0 44 26 37.1429 MROH7 0 genome.wustl.edu 37 1 55175737 55175737 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55175737 55175737 G C SNP MROH7 ENST00000421030 human ensembl 74_37 +1 known missense c.3849 p.W1283C 0.250 NULL superfamily_ARM-type_fold - no_errors MROH7 HGNC ENSG00000184313 45 0 0 41 18 30.5085 USP24 0 genome.wustl.edu 37 1 55603307 55603307 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 55603307 55603307 G T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.2602 p.Q868K 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 31 0 0 17 10 37.037 RABGGTB 0 genome.wustl.edu 37 1 76257209 76257209 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 76257209 76257209 G A SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known missense c.532 p.D178N 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 209 0 0 94 59 38.5621 CNNM1 0 genome.wustl.edu 37 10 101147910 101147910 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 101147910 101147910 C A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known nonsense c.2526 p.C842* 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 94 0 0 38 43 53.0864 LDB1 0 genome.wustl.edu 37 10 103869414 103869414 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 103869414 103869414 C T SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known silent c.675 p.Q225 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 119 0 0 93 11 10.5769 PNLIPRP2 0 genome.wustl.edu 37 10 118397924 118397924 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 118397924 118397924 G T SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known missense c.1108 p.V370L 0.000 pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 12 0 0 7 5 41.6667 C10orf137 0 genome.wustl.edu 37 10 127436538 127436538 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 127436538 127436538 A T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.3080 p.H1027L 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 102 0 0 176 10 5.37634 MKI67 0 genome.wustl.edu 37 10 129899748 129899748 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 129899748 129899748 C G SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.9479 p.R3160T 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 200 0 0 201 130 39.2749 PTCHD3 0 genome.wustl.edu 37 10 27687309 27687309 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 27687309 27687309 A G SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.2218 p.S740P 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 40 0 0 26 15 36.5854 TUBAL3 0 genome.wustl.edu 37 10 5436181 5436181 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 5436181 5436181 C A SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known nonsense c.640 p.E214* 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 95 0 0 50 23 31.5068 TET1 0 genome.wustl.edu 37 10 70333844 70333844 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 70333844 70333844 G T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.1749 p.L583F 0.994 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 200 1 0.497512 125 121 49.187 SFMBT2 0 genome.wustl.edu 37 10 7205858 7205858 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 7205858 7205858 T G SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2559 p.Q853H 1.000 pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 69 0 0 45 18 28.5714 ECD 0 genome.wustl.edu 37 10 74916070 74916070 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 10 74916070 74916070 C T SNP ECD ENST00000430082 human ensembl 74_37 -1 known missense c.553 p.E185K 0.994 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 92 0 0 80 63 44.0559 BTG4 0 genome.wustl.edu 37 11 111365983 111365983 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 111365983 111365983 A G SNP BTG4 ENST00000356018 human ensembl 74_37 -1 known silent c.567 p.N189 0.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 96 0 0 64 33 34.0206 MICAL2 0 genome.wustl.edu 37 11 12234898 12234898 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 12234898 12234898 T C SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.788 p.I263T 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 242 0 0 164 68 29.3103 ROBO3 0 genome.wustl.edu 37 11 124748251 124748251 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 124748251 124748251 A G SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.3239 p.N1080S 0.991 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 30 0 0 12 10 45.4545 HPS5 0 genome.wustl.edu 37 11 18308255 18308255 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 18308255 18308255 G A SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.2720 p.S907L 0.008 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 51 0 0 28 14 33.3333 INS-IGF2 0 genome.wustl.edu 37 11 2182157 2182157 + Silent SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 2182157 2182157 G T SNP INS-IGF2 ENST00000356578 human ensembl 74_37 -1 known silent c.45 p.A15 0.000 superfamily_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin - no_errors INS-IGF2 HGNC ENSG00000129965 75 0 0 43 30 41.0959 CARS 0 genome.wustl.edu 37 11 3041523 3041523 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 3041523 3041523 C T SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.1193 p.R398H 1.000 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 89 0 0 68 23 25.2747 AMBRA1 0 genome.wustl.edu 37 11 46569856 46569856 + Silent SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 46569856 46569856 A C SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.75 p.A25 0.991 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 480 0 0 320 167 34.2916 MYBPC3 0 genome.wustl.edu 37 11 47354132 47354132 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 47354132 47354132 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.3612 p.V1204 0.973 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 88 0 0 66 16 19.5122 LOC440040 0 genome.wustl.edu 37 11 49831405 49831405 + RNA SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 49831405 49831405 C A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 48 0 0 33 19 36.5385 OR56A1 0 genome.wustl.edu 37 11 6048178 6048178 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 6048178 6048178 T A SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.757 p.I253F 0.141 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 94 0 0 60 17 22.0779 EML3 0 genome.wustl.edu 37 11 62376087 62376087 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 62376087 62376087 G C SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1037 p.T346R 0.993 superfamily_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 319 0 0 208 82 28.2759 RTN3 0 genome.wustl.edu 37 11 63520546 63520546 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 63520546 63520546 T C SNP RTN3 ENST00000536011 human ensembl 74_37 +1 known missense c.356 p.L119P 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 296 0 0 194 84 30.2158 MALAT1 0 genome.wustl.edu 37 11 65270449 65270449 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 65270449 65270449 G A SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 15 0 0 9 7 43.75 FAT3 0 genome.wustl.edu 37 11 92088009 92088009 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 92088009 92088009 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2731 p.E911Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 153 0 0 75 27 26.4706 DENND5A 0 genome.wustl.edu 37 11 9225482 9225482 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 9225482 9225482 T A SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.674 p.Q225L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 61 0 0 37 22 37.2881 MED17 0 genome.wustl.edu 37 11 93523876 93523876 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 93523876 93523876 C T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.554 p.S185F 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 149 0 0 105 41 28.0822 HEPHL1 0 genome.wustl.edu 37 11 93797566 93797566 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 93797566 93797566 T A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.698 p.V233E 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 55 0 0 26 14 35 GOLGA2P5 0 genome.wustl.edu 37 12 100562387 100562387 + RNA SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 100562387 100562387 C A SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.370 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 11 0 0 1 2 66.6667 GOLGA2P5 0 genome.wustl.edu 37 12 100562411 100562411 + RNA SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 100562411 100562411 A G SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 12 0 0 1 2 66.6667 STYK1 0 genome.wustl.edu 37 12 10777274 10777274 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 10777274 10777274 C G SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.902 p.R301T 0.995 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 229 0 0 119 53 30.814 RASAL1 0 genome.wustl.edu 37 12 113553490 113553490 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 113553490 113553490 A G SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.953 p.L318P 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 71 0 0 34 24 41.3793 GCN1L1 0 genome.wustl.edu 37 12 120575734 120575734 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 120575734 120575734 C A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known nonsense c.6364 p.E2122* 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 64 0 0 39 25 39.0625 B3GNT4 0 genome.wustl.edu 37 12 122691057 122691057 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 122691057 122691057 C G SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.259 p.L87V 0.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 443 0 0 237 118 33.2394 EP400 0 genome.wustl.edu 37 12 132514584 132514584 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 132514584 132514584 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5743 p.R1915C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 189 0 0 109 45 29.2208 OVCH1 0 genome.wustl.edu 37 12 29630148 29630148 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 29630148 29630148 G C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.1264 p.L422V 0.024 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 65 0 0 43 25 36.7647 PKP2 0 genome.wustl.edu 37 12 32996162 32996162 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 32996162 32996162 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.1464 p.G488 0.005 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 36 0 0 23 8 25.8065 PKP2 0 genome.wustl.edu 37 12 32996166 32996166 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 32996166 32996166 T C SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.1460 p.Q487R 0.004 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 39 0 0 26 9 25.7143 CPNE8 0 genome.wustl.edu 37 12 39223183 39223183 + Silent SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 39223183 39223183 T A SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known silent c.405 p.I135 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 213 0 0 134 64 32.3232 ANP32D 0 genome.wustl.edu 37 12 48866620 48866620 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 48866620 48866620 C T SNP ANP32D ENST00000266594 human ensembl 74_37 +1 known missense c.173 p.A58V 0.985 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 133 0 0 90 33 26.8293 KRT6B 0 genome.wustl.edu 37 12 52843273 52843273 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 52843273 52843273 C T SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.1057 p.E353K 0.996 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 289 0 0 171 75 30.4878 STAC3 0 genome.wustl.edu 37 12 57642901 57642901 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 57642901 57642901 T C SNP STAC3 ENST00000332782 human ensembl 74_37 -1 known missense c.257 p.N86S 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 89 0 0 70 25 26.3158 BRCA2 0 genome.wustl.edu 37 13 32954167 32954167 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 13 32954167 32954167 G C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.9141 p.Q3047H 0.179 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 48 0 0 35 4 10.2564 XRCC3 0 genome.wustl.edu 37 14 104165811 104165811 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 104165811 104165811 C G SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known missense c.664 p.E222Q 1.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 110 0 0 39 35 47.2973 PARP2 0 genome.wustl.edu 37 14 20820433 20820433 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 20820433 20820433 A G SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.566 p.E189G 0.957 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 109 0 0 57 22 27.8481 PABPN1 0 genome.wustl.edu 37 14 23792277 23792277 + Splice_Site SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 23792277 23792277 T C SNP PABPN1 ENST00000216727 human ensembl 74_37 +1 known splice_site c.534+2 e3+2 1.000 - - - no_errors PABPN1 HGNC ENSG00000100836 138 0 0 82 48 36.9231 LRRC16B 0 genome.wustl.edu 37 14 24535792 24535792 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 24535792 24535792 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.3609 p.K1203 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 132 0 0 65 40 38.0952 TSSK4 0 genome.wustl.edu 37 14 24676673 24676673 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 24676673 24676673 G T SNP TSSK4 ENST00000339917 human ensembl 74_37 +1 known missense c.792 p.E264D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK4 HGNC ENSG00000139908 108 0 0 77 31 28.7037 GZMH 0 genome.wustl.edu 37 14 25077579 25077579 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 25077579 25077579 C T SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.95 p.R32H 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 287 0 0 165 75 31.25 ARHGAP5 0 genome.wustl.edu 37 14 32561318 32561318 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 32561318 32561318 A C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1443 p.E481D 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 144 0 0 56 46 45.098 RTN1 0 genome.wustl.edu 37 14 60069958 60069958 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 60069958 60069958 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.2201 p.T734I 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 37 0 0 24 12 33.3333 SGPP1 0 genome.wustl.edu 37 14 64194101 64194101 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 64194101 64194101 A C SNP SGPP1 ENST00000247225 human ensembl 74_37 -1 known missense c.562 p.S188A 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 168 0 0 95 28 22.7642 ACOT1 0 genome.wustl.edu 37 14 74009789 74009789 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 74009789 74009789 C G SNP ACOT1 ENST00000311148 human ensembl 74_37 +1 known silent c.696 p.S232 0.992 pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 85 0 0 59 21 26.25 SERPINA11 0 genome.wustl.edu 37 14 94914550 94914550 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 14 94914550 94914550 T A SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.562 p.T188S 0.985 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 228 0 0 55 63 53.3898 MKRN3 0 genome.wustl.edu 37 15 23812252 23812252 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 23812252 23812252 C T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known silent c.1323 p.Y441 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 103 0 0 66 32 32.6531 SNORD115-48 0 genome.wustl.edu 37 15 25514970 25514970 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 25514970 25514970 G A SNP SNORD115-48 ENST00000364764 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-48 HGNC ENSG00000201634 49 0 0 43 17 28.3333 SCG5 0 genome.wustl.edu 37 15 32972071 32972071 + Nonsense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 32972071 32972071 C T SNP SCG5 ENST00000300175 human ensembl 74_37 +1 known nonsense c.331 p.Q111* 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 224 0 0 128 90 41.2844 C15orf43 0 genome.wustl.edu 37 15 45248926 45248926 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 45248926 45248926 G C SNP C15orf43 ENST00000340827 human ensembl 74_37 +1 known missense c.10 p.G4R 1.000 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 60 0 0 39 19 32.7586 DYX1C1 0 genome.wustl.edu 37 15 55710308 55710308 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 55710308 55710308 A C SNP DYX1C1 ENST00000380679 human ensembl 74_37 -1 known missense c.1071 p.I357M 0.002 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors DYX1C1 HGNC ENSG00000256061 26 0 0 12 9 42.8571 VPS13C 0 genome.wustl.edu 37 15 62264958 62264958 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 62264958 62264958 C G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.2623 p.D875H 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 87 0 0 54 28 34.1463 NEO1 0 genome.wustl.edu 37 15 73408892 73408892 + Nonsense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 73408892 73408892 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.142 p.R48* 0.914 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 98 0 0 26 16 38.0952 AKAP13 0 genome.wustl.edu 37 15 86124979 86124979 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 86124979 86124979 C G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.3680 p.T1227S 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 64 0 0 18 17 48.5714 PTX4 0 genome.wustl.edu 37 16 1536494 1536494 + Nonsense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 1536494 1536494 G A SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known nonsense c.883 p.R295* 0.886 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 103 0 0 73 7 8.75 CCP110 0 genome.wustl.edu 37 16 19554080 19554080 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 19554080 19554080 C G SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known missense c.2365 p.Q789E 1.000 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 34 0 0 24 15 38.4615 GPRC5B 0 genome.wustl.edu 37 16 19883344 19883344 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 19883344 19883344 G A SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.902 p.T301M 1.000 pfam_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 82 0 0 37 17 31.4815 KIF22 0 genome.wustl.edu 37 16 29816274 29816274 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 29816274 29816274 G T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.1817 p.S606I 0.997 superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 101 0 0 63 27 30 NETO2 0 genome.wustl.edu 37 16 47162251 47162251 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 47162251 47162251 A G SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.466 p.Y156H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 120 0 0 67 43 39.0909 ABCC12 0 genome.wustl.edu 37 16 48121987 48121987 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 48121987 48121987 G T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known nonsense c.3485 p.S1162* 0.982 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 64 0 0 33 18 35.2941 RPGRIP1L 0 genome.wustl.edu 37 16 53679591 53679591 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 53679591 53679591 T A SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2629 p.I877L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 59 0 0 40 20 33.3333 AMFR 0 genome.wustl.edu 37 16 56441887 56441887 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 56441887 56441887 T C SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.655 p.M219V 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 71 0 0 40 16 28.5714 HYDIN 0 genome.wustl.edu 37 16 70891638 70891638 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 70891638 70891638 A C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.12265 p.S4089A 0.920 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 92 0 0 84 19 18.4466 WDR90 0 genome.wustl.edu 37 16 716275 716275 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 716275 716275 C T SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known silent c.462 p.C154 0.019 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 136 0 0 34 29 46.0317 GLG1 0 genome.wustl.edu 37 16 74496081 74496081 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 74496081 74496081 C G SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.2947 p.D983H 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 58 0 0 40 18 31.0345 FANCA 0 genome.wustl.edu 37 16 89806506 89806506 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 89806506 89806506 C G SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.3830 p.S1277T 0.109 pfam_Fanconia pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 157 0 0 112 52 31.7073 ZNF624 0 genome.wustl.edu 37 17 16526673 16526673 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 16526673 16526673 G C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.1527 p.F509L 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF624 HGNC ENSG00000197566 87 0 0 55 22 28.5714 ENSG00000226145 0 genome.wustl.edu 37 17 16725777 16725777 + RNA SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 16725777 16725777 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 20 0 0 15 3 16.6667 MYO15A 0 genome.wustl.edu 37 17 18022927 18022927 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 18022927 18022927 G C SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.813 p.W271C 0.988 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 93 0 0 57 20 25.974 CRLF3 0 genome.wustl.edu 37 17 29113018 29113018 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 29113018 29113018 C G SNP CRLF3 ENST00000324238 human ensembl 74_37 -1 known missense c.991 p.D331H 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 147 0 0 86 54 38.5714 LYZL6 0 genome.wustl.edu 37 17 34266318 34266318 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 34266318 34266318 C T SNP LYZL6 ENST00000293274 human ensembl 74_37 -1 known missense c.43 p.A15T 0.000 NULL pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL6 HGNC ENSG00000161572 148 0 0 111 59 34.7059 P2RX5 0 genome.wustl.edu 37 17 3592861 3592861 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 3592861 3592861 G C SNP P2RX5 ENST00000435558 human ensembl 74_37 -1 known missense c.678 p.N226K 0.009 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 263 1 0.378788 172 71 29.2181 ATP6V0A1 0 genome.wustl.edu 37 17 40659608 40659608 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 40659608 40659608 A G SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.2096 p.H699R 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 125 0 0 83 53 38.9706 PELP1 0 genome.wustl.edu 37 17 4575317 4575317 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 4575317 4575317 T A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.3401 p.E1134V 0.046 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 21 0 0 11 6 35.2941 EPX 0 genome.wustl.edu 37 17 56270780 56270780 + Silent SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 56270780 56270780 G C SNP EPX ENST00000225371 human ensembl 74_37 +1 known silent c.219 p.L73 1.000 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 240 0 0 205 68 24.9084 EPX 0 genome.wustl.edu 37 17 56274361 56274361 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 56274361 56274361 C A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.863 p.A288E 0.954 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 207 0 0 197 69 25.9398 TEX2 0 genome.wustl.edu 37 17 62271199 62271199 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 62271199 62271199 C A SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.1896 p.K632N 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 113 0 0 157 18 10.2857 RGS9 0 genome.wustl.edu 37 17 63200400 63200400 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 63200400 63200400 T C SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1184 p.I395T 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 60 0 0 89 19 17.5926 CD300LB 0 genome.wustl.edu 37 17 72519041 72519041 + Splice_Site SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 72519041 72519041 T A SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known splice_site c.555-2 e4-2 0.979 - - - no_errors CD300LB HGNC ENSG00000178789 42 0 0 36 34 48.5714 ASPSCR1 0 genome.wustl.edu 37 17 79973161 79973161 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 79973161 79973161 C T SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.1564 p.P522S 0.014 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 74 0 0 80 57 41.6058 TTC39C 0 genome.wustl.edu 37 18 21703872 21703872 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 18 21703872 21703872 A G SNP TTC39C ENST00000317571 human ensembl 74_37 +1 known missense c.1261 p.K421E 1.000 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 51 0 0 40 12 23.0769 EPB41L3 0 genome.wustl.edu 37 18 5433965 5433965 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 18 5433965 5433965 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.761 p.R254H 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 276 0 0 79 61 43.5714 ICAM5 0 genome.wustl.edu 37 19 10402309 10402309 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 10402309 10402309 G T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.497 p.R166L 0.985 smart_Ig_sub,prints_ICAM_VCAM_N pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 97 0 0 70 40 36.3636 NCAN 0 genome.wustl.edu 37 19 19337345 19337345 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 19337345 19337345 G C SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.1123 p.D375H 0.997 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 96 0 0 70 25 26.3158 ZNF676 0 genome.wustl.edu 37 19 22363387 22363387 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 22363387 22363387 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1132 p.S378P 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 100 0 0 62 23 27.0588 ZNF675 0 genome.wustl.edu 37 19 23836771 23836771 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 23836771 23836771 T G SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.964 p.T322P 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 52 0 0 59 16 21.3333 KIRREL2 0 genome.wustl.edu 37 19 36357139 36357139 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 36357139 36357139 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known silent c.1872 p.F624 0.986 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 149 0 0 76 35 31.5315 ZNF585A 0 genome.wustl.edu 37 19 37643698 37643698 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 37643698 37643698 T A SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.1103 p.E368V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 117 0 0 78 22 22 ACTN4 0 genome.wustl.edu 37 19 39215193 39215193 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 39215193 39215193 G C SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1998 p.Q666H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 121 0 0 121 21 14.7887 SEMA6B 0 genome.wustl.edu 37 19 4555047 4555047 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 4555047 4555047 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 134 0 0 93 44 32.1168 NPAS1 0 genome.wustl.edu 37 19 47542712 47542712 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 47542712 47542712 G A SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.852 p.V284 0.999 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 98 0 0 78 34 30.3571 FGF21 0 genome.wustl.edu 37 19 49260198 49260198 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 49260198 49260198 A T SNP FGF21 ENST00000222157 human ensembl 74_37 +1 known missense c.251 p.K84I 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF21 HGNC ENSG00000105550 317 0 0 185 114 38.1271 RFX2 0 genome.wustl.edu 37 19 6001988 6001988 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 6001988 6001988 C T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1697 p.R566Q 0.999 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 144 0 0 83 39 31.9672 C3 0 genome.wustl.edu 37 19 6714022 6714022 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 6714022 6714022 C G SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.754 p.E252Q 0.001 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 155 0 0 124 37 22.9814 INSR 0 genome.wustl.edu 37 19 7117150 7117150 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 7117150 7117150 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.4066 p.E1356K 0.985 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 179 0 0 114 55 32.5444 OR2Z1 0 genome.wustl.edu 37 19 8841637 8841637 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 8841637 8841637 T C SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.247 p.S83P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 112 0 0 61 42 40.7767 MUC16 0 genome.wustl.edu 37 19 9075305 9075305 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 9075305 9075305 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.12141 p.P4047 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 221 0 0 125 64 33.8624 AFF3 0 genome.wustl.edu 37 2 100623273 100623273 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 100623273 100623273 T C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.769 p.T257A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 91 0 0 50 27 35.0649 MFSD9 0 genome.wustl.edu 37 2 103343411 103343411 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 103343411 103343411 C A SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known missense c.320 p.G107V 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 89 0 0 62 7 10.1449 WDR33 0 genome.wustl.edu 37 2 128467158 128467158 + Splice_Site SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 128467158 128467158 T A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known splice_site c.3473-2 e19-2 0.953 - - - no_errors WDR33 HGNC ENSG00000136709 138 0 0 91 49 35 TTC21B 0 genome.wustl.edu 37 2 166747428 166747428 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 166747428 166747428 T C SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known silent c.3021 p.R1007 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 48 0 0 47 19 28.7879 XIRP2 0 genome.wustl.edu 37 2 168100398 168100398 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 168100398 168100398 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.2496 p.K832 0.111 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 149 0 0 91 45 33.0882 XIRP2 0 genome.wustl.edu 37 2 168108443 168108443 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 168108443 168108443 C G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10541 p.S3514C 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 103 0 0 45 18 28.5714 INO80D 0 genome.wustl.edu 37 2 206921058 206921058 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 206921058 206921058 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known silent c.828 p.D276 0.752 NULL NULL - no_errors INO80D HGNC ENSG00000114933 78 0 0 35 25 41.6667 MAP2 0 genome.wustl.edu 37 2 210574917 210574917 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 210574917 210574917 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.5012 p.K1671T 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 25 0 0 16 5 23.8095 ABCA12 0 genome.wustl.edu 37 2 215831659 215831659 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 215831659 215831659 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.5797 p.G1933S 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 95 0 0 75 32 29.9065 ABCB6 0 genome.wustl.edu 37 2 220078577 220078577 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 220078577 220078577 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.1549 p.A517T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 434 1 0.229885 336 151 31.0062 OBSL1 0 genome.wustl.edu 37 2 220429980 220429980 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 220429980 220429980 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known silent c.2391 p.F797 0.982 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 37 0 0 32 7 17.9487 CHRNG 0 genome.wustl.edu 37 2 233407629 233407629 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 233407629 233407629 G C SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.642 p.K214N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 90 0 0 50 28 35.8974 TRPM8 0 genome.wustl.edu 37 2 234854619 234854619 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 234854619 234854619 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.819 p.V273 0.002 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 124 0 0 87 32 26.8908 KCNK3 0 genome.wustl.edu 37 2 26915889 26915889 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 26915889 26915889 G A SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.146 p.R49Q 1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 24 0 0 10 8 44.4444 HEATR5B 0 genome.wustl.edu 37 2 37268331 37268331 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 37268331 37268331 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.2801 p.T934I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 81 0 0 61 30 32.967 SLC8A1 0 genome.wustl.edu 37 2 40657254 40657254 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 40657254 40657254 T G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.167 p.K56T 1.000 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 154 0 0 72 41 36.2832 OXER1 0 genome.wustl.edu 37 2 42990074 42990074 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 42990074 42990074 C T SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known missense c.1246 p.E416K 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 176 0 0 116 45 27.9503 TTC7A 0 genome.wustl.edu 37 2 47249095 47249095 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 47249095 47249095 C T SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known missense c.1487 p.T496I 1.000 smart_TPR_repeat pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 92 0 0 56 32 36.3636 LHCGR 0 genome.wustl.edu 37 2 48915642 48915642 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 48915642 48915642 C G SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1294 p.D432H 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 70 0 0 48 21 30.4348 XPO1 0 genome.wustl.edu 37 2 61719473 61719473 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 61719473 61719473 G A SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known silent c.1710 p.F570 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 59 0 0 47 17 26.5625 DQX1 0 genome.wustl.edu 37 2 74745582 74745582 + Silent SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 74745582 74745582 G T SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known silent c.2145 p.V715 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 88 0 0 64 30 31.9149 DEFB123 0 genome.wustl.edu 37 20 30037835 30037835 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 30037835 30037835 G A SNP DEFB123 ENST00000376309 human ensembl 74_37 +1 known missense c.62 p.G21D 0.002 NULL NULL - no_errors DEFB123 HGNC ENSG00000180424 174 0 0 126 43 25.4438 LZTS3 0 genome.wustl.edu 37 20 3145759 3145759 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 3145759 3145759 G C SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1363 p.Q455E 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 10 0 0 11 3 21.4286 NEURL2 0 genome.wustl.edu 37 20 44519208 44519208 + Silent SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 44519208 44519208 G C SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known silent c.423 p.L141 0.993 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 105 0 0 125 28 18.3007 ARFGEF2 0 genome.wustl.edu 37 20 47611101 47611101 + Silent SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 47611101 47611101 A T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.3087 p.T1029 0.017 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 67 0 0 85 16 15.8416 KCNG1 0 genome.wustl.edu 37 20 49621343 49621343 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 49621343 49621343 C A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.775 p.G259C 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 16 0 0 11 7 38.8889 MCM8 0 genome.wustl.edu 37 20 5935803 5935803 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 5935803 5935803 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.392 p.G131D 0.716 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 75 0 0 45 15 25 TCFL5 0 genome.wustl.edu 37 20 61488883 61488883 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 20 61488883 61488883 C G SNP TCFL5 ENST00000335351 human ensembl 74_37 -1 known missense c.1102 p.G368R 0.383 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCFL5 HGNC ENSG00000101190 168 0 0 167 26 13.4715 TPTE 0 genome.wustl.edu 37 21 10934967 10934967 + Nonsense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 10934967 10934967 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known nonsense c.826 p.R276* 0.629 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 151 0 0 126 15 10.6383 ADAMTS5 0 genome.wustl.edu 37 21 28337677 28337677 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 28337677 28337677 T G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1034 p.Q345P 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 207 0 0 107 53 33.125 PSMG1 0 genome.wustl.edu 37 21 40550456 40550456 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 40550456 40550456 G T SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known missense c.574 p.L192I 0.978 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 150 0 0 86 40 31.746 COL18A1 0 genome.wustl.edu 37 21 46876079 46876079 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 46876079 46876079 C A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.635 p.P212Q 0.001 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 80 0 0 64 22 25.5814 COL18A1 0 genome.wustl.edu 37 21 46930021 46930021 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 46930021 46930021 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4784 p.R1595Q 0.873 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 21 0 0 16 6 27.2727 COL18A1 0 genome.wustl.edu 37 21 46932280 46932280 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 21 46932280 46932280 A G SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.5233 p.I1745V 1.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 49 0 0 38 13 25.4902 NCF4 0 genome.wustl.edu 37 22 37271939 37271939 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 22 37271939 37271939 C G SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known missense c.872 p.S291C 0.000 NULL pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 95 0 0 72 42 36.8421 IL2RB 0 genome.wustl.edu 37 22 37539616 37539616 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 22 37539616 37539616 G C SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.148 p.Q50E 0.806 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 120 0 0 79 27 25.4717 ALCAM 0 genome.wustl.edu 37 3 105264121 105264121 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 105264121 105264121 C T SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.1046 p.A349V 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 116 0 0 65 37 36.2745 SEC61A1 0 genome.wustl.edu 37 3 127786365 127786365 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 127786365 127786365 C G SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.1077 p.V359 0.990 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 161 0 0 98 51 34.2282 DNAJC13 0 genome.wustl.edu 37 3 132166292 132166292 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 132166292 132166292 C A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.272 p.T91K 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 50 0 0 41 9 18 AMOTL2 0 genome.wustl.edu 37 3 134078242 134078242 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 134078242 134078242 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.1987 p.R663W 0.998 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 89 0 0 81 31 27.6786 MRAS 0 genome.wustl.edu 37 3 138121080 138121080 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 138121080 138121080 G A SNP MRAS ENST00000289104 human ensembl 74_37 +1 known missense c.596 p.G199D 0.399 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 82 0 0 95 12 11.215 ESYT3 0 genome.wustl.edu 37 3 138191676 138191676 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 138191676 138191676 C T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known silent c.2212 p.L738 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 222 0 0 143 124 46.4419 VEPH1 0 genome.wustl.edu 37 3 157146233 157146233 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 157146233 157146233 G T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.574 p.Q192K 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 93 0 0 89 20 18.3486 TNIK 0 genome.wustl.edu 37 3 170912388 170912388 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 170912388 170912388 C T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.343 p.D115N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 191 0 0 183 50 21.4592 PIK3CA 0 genome.wustl.edu 37 3 178927451 178927451 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 178927451 178927451 C T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1214 p.S405F 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 144 0 0 175 31 15.0485 KCNMB3 0 genome.wustl.edu 37 3 178984437 178984437 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 178984437 178984437 C G SNP KCNMB3 ENST00000349697 human ensembl 74_37 -1 known missense c.62 p.R21T 1.000 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 50 0 0 52 9 14.7541 ACAP2 0 genome.wustl.edu 37 3 195047675 195047675 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 195047675 195047675 A G SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.683 p.V228A 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 33 0 0 35 17 32.6923 ARPP21 0 genome.wustl.edu 37 3 35780834 35780834 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 35780834 35780834 G T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1673 p.G558V 0.999 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 183 0 0 102 47 31.5436 TTC21A 0 genome.wustl.edu 37 3 39174717 39174717 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 39174717 39174717 C G SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.2761 p.P921A 0.845 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 74 0 0 31 14 31.1111 CTNNB1 0 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 41266113 41266113 C G SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.110 p.S37C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 59 0 0 15 37 71.1538 CCR9 0 genome.wustl.edu 37 3 45943175 45943175 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 45943175 45943175 T G SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.895 p.F299V 0.083 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 115 0 0 82 33 28.6957 CCR5 0 genome.wustl.edu 37 3 46415067 46415067 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 46415067 46415067 G A SNP CCR5 ENST00000292303 human ensembl 74_37 +1 known missense c.674 p.R225Q 0.312 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 326 0 0 229 102 30.8157 COL7A1 0 genome.wustl.edu 37 3 48604364 48604364 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 48604364 48604364 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.8202 p.G2734 0.981 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 35 0 0 23 13 36.1111 GRM2 0 genome.wustl.edu 37 3 51746896 51746896 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 51746896 51746896 T G SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.858 p.N286K 0.316 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 112 0 0 65 23 26.1364 CHDH 0 genome.wustl.edu 37 3 53851805 53851805 + Nonstop_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 53851805 53851805 T A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known nonstop c.1784 p.*595L 0.901 NULL pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 32 0 0 9 4 30.7692 GBE1 0 genome.wustl.edu 37 3 81695552 81695552 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 81695552 81695552 G T SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.773 p.A258E 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 81 0 0 31 13 29.5455 GBE1 0 genome.wustl.edu 37 3 81754641 81754641 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 81754641 81754641 T C SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known silent c.267 p.K89 0.998 pfam_Glyco_hydro_13_N,superfamily_Ig_E-set pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 23 0 0 20 7 25.9259 OR5H14 0 genome.wustl.edu 37 3 97868957 97868957 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 97868957 97868957 C A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.728 p.A243D 0.467 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 43 0 0 27 10 27.027 NPNT 0 genome.wustl.edu 37 4 106879639 106879639 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 106879639 106879639 C A SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.1171 p.P391T 1.000 NULL pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 44 0 0 37 16 30.1887 FAT4 0 genome.wustl.edu 37 4 126411252 126411252 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 126411252 126411252 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.13275 p.V4425 0.446 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 172 0 0 98 49 33.3333 MFSD8 0 genome.wustl.edu 37 4 128865029 128865029 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 128865029 128865029 G C SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known missense c.317 p.P106R 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 156 0 0 96 44 31.4286 PCDH18 0 genome.wustl.edu 37 4 138450910 138450910 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 138450910 138450910 G A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2333 p.S778F 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 71 0 0 39 9 18.75 ABCE1 0 genome.wustl.edu 37 4 146032195 146032195 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 146032195 146032195 T G SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.689 p.V230G 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 92 0 0 39 23 37.0968 TIGD4 0 genome.wustl.edu 37 4 153690957 153690957 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 153690957 153690957 C G SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.1200 p.L400F 0.916 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 103 0 0 61 47 43.5185 MSANTD1 0 genome.wustl.edu 37 4 3251139 3251139 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 3251139 3251139 G A SNP MSANTD1 ENST00000438480 human ensembl 74_37 +1 known missense c.190 p.E64K 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 19 0 0 14 4 22.2222 EVC2 0 genome.wustl.edu 37 4 5620354 5620354 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 5620354 5620354 G C SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2557 p.Q853E 0.998 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 26 0 0 13 6 31.5789 SLC4A4 0 genome.wustl.edu 37 4 72429557 72429557 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 72429557 72429557 G A SNP SLC4A4 ENST00000264485 human ensembl 74_37 +1 known missense c.3147 p.M1049I 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 154 0 0 103 44 29.932 PKD2 0 genome.wustl.edu 37 4 88940704 88940704 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 88940704 88940704 T A SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known missense c.690 p.F230L 0.963 prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 45 0 0 30 25 45.4545 APC 0 genome.wustl.edu 37 5 112174114 112174114 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 112174114 112174114 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.2823 p.E941 0.980 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 43 0 0 22 10 31.25 TERT 0 genome.wustl.edu 37 5 1282621 1282621 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 1282621 1282621 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.1692 p.T564 0.895 pfam_Telomerase_RBD,smart_Telomerase_RBD,prints_Telomerase_RT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 105 0 0 62 45 42.0561 IL4 0 genome.wustl.edu 37 5 132009878 132009878 + Splice_Site SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 132009878 132009878 G T SNP IL4 ENST00000231449 human ensembl 74_37 +1 known splice_site c.135+1 e1+1 0.988 - - - no_errors IL4 HGNC ENSG00000113520 142 0 0 100 38 27.5362 PHF15 0 genome.wustl.edu 37 5 133914666 133914666 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 133914666 133914666 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.2032 p.P678S 0.026 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 280 0 0 188 118 38.5621 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 13717530 13717530 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 51 0 0 41 8 16.3265 NRG2 0 genome.wustl.edu 37 5 139232604 139232604 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 139232604 139232604 C T SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.1307 p.R436Q 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 157 0 0 93 40 30.0752 PCDHGA12 0 genome.wustl.edu 37 5 140811832 140811832 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 140811832 140811832 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1506 p.S502 0.962 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 155 0 0 95 48 33.5664 PCDH12 0 genome.wustl.edu 37 5 141336048 141336048 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 141336048 141336048 C A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.1369 p.A457S 0.755 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 178 0 0 98 46 31.9444 TRIO 0 genome.wustl.edu 37 5 14488285 14488285 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 14488285 14488285 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.7548 p.H2516 0.999 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 23 0 0 19 12 38.7097 PPARGC1B 0 genome.wustl.edu 37 5 149215999 149215999 + Nonsense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 149215999 149215999 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known nonsense c.1981 p.R661* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 182 0 0 97 51 34.4595 NDST1 0 genome.wustl.edu 37 5 149901049 149901049 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 149901049 149901049 C A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.233 p.P78H 0.946 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 111 0 0 70 45 39.1304 GEMIN5 0 genome.wustl.edu 37 5 154304027 154304027 + Splice_Site SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 154304027 154304027 A T SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known splice_site c.1379+2 e9+2 1.000 - - - no_errors GEMIN5 HGNC ENSG00000082516 303 0 0 192 104 35.1351 ADAM19 0 genome.wustl.edu 37 5 156923951 156923951 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 156923951 156923951 G T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.1551 p.N517K 0.273 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 25 0 0 16 13 44.8276 MYO10 0 genome.wustl.edu 37 5 16681456 16681456 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 16681456 16681456 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.4346 p.S1449F 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 110 0 0 59 29 32.9545 PRDM9 0 genome.wustl.edu 37 5 23509151 23509151 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 23509151 23509151 T C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.9 p.P3 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 40 0 0 34 10 22.7273 ADAMTS12 0 genome.wustl.edu 37 5 33649015 33649015 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 33649015 33649015 T G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1391 p.K464T 0.998 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 79 0 0 69 31 31 LIFR 0 genome.wustl.edu 37 5 38481923 38481923 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 38481923 38481923 T C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.3068 p.D1023G 0.234 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 119 1 0.833333 71 35 33.0189 FYB 0 genome.wustl.edu 37 5 39202288 39202288 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 39202288 39202288 A C SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.805 p.F269V 0.995 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 184 0 0 109 54 33.1288 PTGER4 0 genome.wustl.edu 37 5 40681737 40681737 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 5 40681737 40681737 C A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.642 p.H214Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 29 0 0 19 9 32.1429 GRIK2 0 genome.wustl.edu 37 6 102307312 102307312 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 102307312 102307312 G T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.1468 p.A490S 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 71 0 0 43 17 28.3333 ATXN1 0 genome.wustl.edu 37 6 16327909 16327909 + Missense_Mutation SNP A A C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 16327909 16327909 A C SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.633 p.H211Q 0.024 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 34 0 0 19 4 17.3913 SLC17A4 0 genome.wustl.edu 37 6 25769258 25769258 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 25769258 25769258 G T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.137 p.C46F 0.992 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 75 0 0 55 18 24.6575 HIST1H2BL 0 genome.wustl.edu 37 6 27775671 27775671 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 27775671 27775671 G T SNP HIST1H2BL ENST00000377401 human ensembl 74_37 -1 known missense c.14 p.A5D 0.994 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 141 0 0 64 41 39.0476 HLA-A 0 genome.wustl.edu 37 6 29911227 29911227 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 29911227 29911227 G T SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known nonsense c.526 p.E176* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 68 0 0 50 19 27.5362 HLA-C 0 genome.wustl.edu 37 6 31238916 31238916 + Nonsense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 31238916 31238916 C A SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known nonsense c.553 p.E185* 0.431 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 100 0 0 97 14 12.6126 PRRC2A 0 genome.wustl.edu 37 6 31594956 31594956 + Missense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 31594956 31594956 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1271 p.G424V 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 38 0 0 24 17 41.4634 DUSP22 0 genome.wustl.edu 37 6 348877 348877 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 348877 348877 C T SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.544 p.P182S 0.487 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 75 0 0 66 10 13.1579 PI16 0 genome.wustl.edu 37 6 36930864 36930864 + Nonsense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 36930864 36930864 C G SNP PI16 ENST00000373674 human ensembl 74_37 +1 known nonsense c.746 p.S249* 0.257 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 215 0 0 137 55 28.6458 CUL7 0 genome.wustl.edu 37 6 43018033 43018033 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 43018033 43018033 T A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.1589 p.Y530F 0.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 297 0 0 151 76 33.4802 HSP90AB1 0 genome.wustl.edu 37 6 44220936 44220936 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 44220936 44220936 A T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1886 p.N629I 1.000 pfam_Hsp90_fam,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 244 0 0 170 79 31.7269 RIMS1 0 genome.wustl.edu 37 6 73023357 73023357 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 73023357 73023357 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4112 p.R1371H 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 27 0 0 10 8 44.4444 COL12A1 0 genome.wustl.edu 37 6 75866024 75866024 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 75866024 75866024 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3199 p.P1067S 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 145 0 0 99 58 36.9427 ME1 0 genome.wustl.edu 37 6 83926271 83926271 + Silent SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 83926271 83926271 C A SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1494 p.R498 0.723 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 143 0 0 99 37 27.2059 ME1 0 genome.wustl.edu 37 6 83926280 83926280 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 83926280 83926280 T C SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1485 p.E495 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 ME1 HGNC ENSG00000065833 143 0 0 100 33 24.812 LHFPL3 0 genome.wustl.edu 37 7 103969565 103969565 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 103969565 103969565 G C SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.338 p.G113A 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 151 0 0 102 47 31.5436 LRRN3 0 genome.wustl.edu 37 7 110764569 110764569 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 110764569 110764569 A T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1741 p.T581S 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 61 0 0 33 14 29.7872 KCND2 0 genome.wustl.edu 37 7 119915218 119915218 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 119915218 119915218 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.532 p.P178S 1.000 prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 69 0 0 40 24 37.5 SPAM1 0 genome.wustl.edu 37 7 123594238 123594238 + Missense_Mutation SNP A A T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 123594238 123594238 A T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.614 p.K205I 0.488 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 109 0 0 66 36 35.2941 SSMEM1 0 genome.wustl.edu 37 7 129847885 129847885 + Nonsense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 129847885 129847885 T A SNP SSMEM1 ENST00000297819 human ensembl 74_37 +1 known nonsense c.135 p.Y45* 1.000 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 143 0 0 87 44 33.5878 DGKI 0 genome.wustl.edu 37 7 137151687 137151687 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 137151687 137151687 T C SNP DGKI ENST00000424189 human ensembl 74_37 -1 novel silent c.2508 p.A836 0.992 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 64 0 0 36 22 37.931 AGK 0 genome.wustl.edu 37 7 141292953 141292953 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 141292953 141292953 C T SNP AGK ENST00000355413 human ensembl 74_37 +1 known missense c.109 p.L37F 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 50 0 0 26 9 25.7143 NOBOX 0 genome.wustl.edu 37 7 144098375 144098375 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 144098375 144098375 G A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.608 p.P203L 0.011 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 36 0 0 16 11 40.7407 WDR60 0 genome.wustl.edu 37 7 158664001 158664001 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 158664001 158664001 C G SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.238 p.P80A 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 13 0 0 3 4 57.1429 DFNA5 0 genome.wustl.edu 37 7 24784184 24784184 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 24784184 24784184 T G SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.401 p.E134A 0.264 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 157 0 0 101 40 28.3688 FAM188B 0 genome.wustl.edu 37 7 30921846 30921846 + Missense_Mutation SNP T T A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 30921846 30921846 T A SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.2022 p.S674R 0.782 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 180 0 0 98 52 34.6667 PDE1C 0 genome.wustl.edu 37 7 31920365 31920365 + Silent SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 31920365 31920365 T C SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.237 p.E79 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 96 0 0 54 33 37.931 BMPER 0 genome.wustl.edu 37 7 33976945 33976945 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 33976945 33976945 C G SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.264 p.S88 0.004 smart_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 121 0 0 64 32 33.3333 SDK1 0 genome.wustl.edu 37 7 4116752 4116752 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 4116752 4116752 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3133 p.V1045M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 62 0 0 41 17 29.3103 GLI3 0 genome.wustl.edu 37 7 42005538 42005538 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 42005538 42005538 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3133 p.V1045M 0.937 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 86 0 0 38 18 32.1429 HECW1 0 genome.wustl.edu 37 7 43477644 43477644 + Nonsense_Mutation SNP G G T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 43477644 43477644 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.844 p.E282* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 139 0 0 94 65 40.8805 GCK 0 genome.wustl.edu 37 7 44187361 44187361 + Missense_Mutation SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 44187361 44187361 T G SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.754 p.M252L 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 155 0 0 139 27 16.2651 GTF2I 0 genome.wustl.edu 37 7 74113412 74113412 + Silent SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 74113412 74113412 C T SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known silent c.360 p.F120 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 11 0 0 19 11 36.6667 CACNA2D1 0 genome.wustl.edu 37 7 81667494 81667494 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 81667494 81667494 T C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.937 p.R313G 0.961 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 96 0 0 62 40 39.2157 CROT 0 genome.wustl.edu 37 7 87011819 87011819 + Missense_Mutation SNP C C A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 87011819 87011819 C A SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.1261 p.Q421K 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 107 0 0 66 37 35.9223 CDK14 0 genome.wustl.edu 37 7 90675216 90675216 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 7 90675216 90675216 T C SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1046 p.L349P 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 54 0 0 44 21 32.3077 BAI1 0 genome.wustl.edu 37 8 143558547 143558547 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 143558547 143558547 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 32 0 0 20 14 41.1765 PARP10 0 genome.wustl.edu 37 8 145059981 145059981 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 145059981 145059981 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.344 p.A115V 0.014 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 79 0 0 63 29 31.5217 OPLAH 0 genome.wustl.edu 37 8 145112528 145112528 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 145112528 145112528 G C SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1245 p.N415K 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 49 0 0 25 12 32.4324 CHRNA2 0 genome.wustl.edu 37 8 27328547 27328547 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 27328547 27328547 G C SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.29 p.S10C 0.002 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 55 0 0 38 19 33.3333 PLAG1 0 genome.wustl.edu 37 8 57079526 57079526 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 57079526 57079526 A G SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.779 p.V260A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 229 0 0 143 52 26.6667 MCMDC2 0 genome.wustl.edu 37 8 67813523 67813523 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 67813523 67813523 G A SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1709 p.R570H 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 75 0 0 52 10 16.129 ZFHX4 0 genome.wustl.edu 37 8 77764760 77764760 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 8 77764760 77764760 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5603 p.P1868L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 24 0 0 14 5 26.3158 CTNNAL1 0 genome.wustl.edu 37 9 111727685 111727685 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 111727685 111727685 T C SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.1564 p.I522V 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 91 0 0 100 39 28.0576 C9orf152 0 genome.wustl.edu 37 9 112963431 112963431 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 112963431 112963431 G A SNP C9orf152 ENST00000400613 human ensembl 74_37 -1 known missense c.517 p.P173S 0.028 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 232 0 0 191 76 28.4644 OR1B1 0 genome.wustl.edu 37 9 125391331 125391331 + Missense_Mutation SNP C C T TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 125391331 125391331 C T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.484 p.V162M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 55 0 0 54 12 18.1818 RC3H2 0 genome.wustl.edu 37 9 125659751 125659751 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 125659751 125659751 G A SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.38 p.S13F 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 28 0 0 23 7 23.3333 SPTAN1 0 genome.wustl.edu 37 9 131380016 131380016 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 131380016 131380016 G C SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.5455 p.A1819P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 107 0 0 64 55 46.2185 NTNG2 0 genome.wustl.edu 37 9 135073526 135073526 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 135073526 135073526 G C SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.387 p.K129N 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 94 0 0 77 63 45 GTF3C4 0 genome.wustl.edu 37 9 135554539 135554539 + Silent SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 135554539 135554539 A G SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known silent c.1533 p.Q511 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 106 0 0 149 51 25.5 PMPCA 0 genome.wustl.edu 37 9 139305141 139305141 + Silent SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 139305141 139305141 G C SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known silent c.21 p.A7 0.001 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 42 0 0 45 9 16.6667 NDOR1 0 genome.wustl.edu 37 9 140100297 140100297 + Missense_Mutation SNP G G C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 140100297 140100297 G C SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known missense c.68 p.R23T 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 76 0 0 75 26 25.7426 SMARCA2 0 genome.wustl.edu 37 9 2161782 2161782 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 2161782 2161782 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4078 p.D1360N 1.000 superfamily_Bromodomain,superfamily_RNaseH-like_dom pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 73 0 0 52 21 28.7671 DDX58 0 genome.wustl.edu 37 9 32487519 32487519 + Missense_Mutation SNP A A G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 32487519 32487519 A G SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.1325 p.V442A 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 88 0 0 49 25 33.7838 SPINK4 0 genome.wustl.edu 37 9 33221060 33221060 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 33221060 33221060 G A SNP SPINK4 ENST00000379723 human ensembl 74_37 +1 known silent c.84 p.S28 0.000 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 61 0 0 35 16 31.3725 PRSS3 0 genome.wustl.edu 37 9 33798518 33798518 + Silent SNP T T G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 33798518 33798518 T G SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known silent c.660 p.A220 0.992 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 192 0 0 107 72 40.2235 RANBP6 0 genome.wustl.edu 37 9 6012549 6012549 + Missense_Mutation SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 6012549 6012549 G A SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.3059 p.T1020I 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 79 0 0 55 18 24.6575 ROR2 0 genome.wustl.edu 37 9 94487112 94487112 + Missense_Mutation SNP T T C TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 9 94487112 94487112 T C SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1664 p.Y555C 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 80 0 0 73 14 16.092 FLNA 0 genome.wustl.edu 37 X 153591144 153591144 + Silent SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 153591144 153591144 C G SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.2289 p.V763 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 10 0 0 3 15 83.3333 LAGE3 0 genome.wustl.edu 37 X 153706667 153706667 + Missense_Mutation SNP C C G TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 153706667 153706667 C G SNP LAGE3 ENST00000357360 human ensembl 74_37 -1 known missense c.272 p.R91T 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors LAGE3 HGNC ENSG00000196976 87 0 0 29 86 74.7826 FAM9A 0 genome.wustl.edu 37 X 8768144 8768144 + Silent SNP G G A TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 X 8768144 8768144 G A SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known silent c.69 p.A23 0.952 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 22 0 0 13 15 53.5714 PTCHD2 0 genome.wustl.edu 37 1 11576170 11576181 + In_Frame_Del DEL CACCTCCCTGAC CACCTCCCTGAC - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 CACCTCCCTGAC CACCTCCCTGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 1 11576170 11576181 CACCTCCCTGAC - DEL PTCHD2 ENST00000294484 human ensembl 74_37 +1 known in_frame_del c.1701_1712 p.SLTT569in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Patched,pfam_MMPL_dom,pfscan_SSD pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 68 0 0 55 8 12.6984 TMEM138 0 genome.wustl.edu 37 11 61133531 61133546 + Frame_Shift_Del DEL CAGTCCTCTTCAACAT CAGTCCTCTTCAACAT - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 CAGTCCTCTTCAACAT CAGTCCTCTTCAACAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 11 61133531 61133546 CAGTCCTCTTCAACAT - DEL TMEM138 ENST00000278826 human ensembl 74_37 +1 known frame_shift_del c.143_158 p.V49fs 0.835:0.215:0.219:0.796:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL - no_errors TMEM138 HGNC ENSG00000149483 195 0 0 137 20 12.7389 CDKN1B 0 genome.wustl.edu 37 12 12871131 12871131 + Frame_Shift_Del DEL G G - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 12871131 12871131 G - DEL CDKN1B ENST00000228872 human ensembl 74_37 +1 known frame_shift_del c.358 p.A121fs 0.913 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 93 0 0 58 28 32.5581 FOXM1 0 genome.wustl.edu 37 12 2968015 2968037 + Frame_Shift_Del DEL GGAGAAGAGTTGCCAAAGGGGAC GGAGAAGAGTTGCCAAAGGGGAC - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GGAGAAGAGTTGCCAAAGGGGAC GGAGAAGAGTTGCCAAAGGGGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 12 2968015 2968037 GGAGAAGAGTTGCCAAAGGGGAC - DEL FOXM1 ENST00000342628 human ensembl 74_37 -1 known frame_shift_del c.2195_2173 p.V725fs 0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.007:0.004:0.002:0.001:0.001:0.001:0.000:0.025:0.975:0.986:0.986:1.000:1.000:0.993:0.795:0.691 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 111 0 0 81 24 22.8571 HERC2 0 genome.wustl.edu 37 15 28369282 28369313 + Frame_Shift_Del DEL GCAGGGGCAGAAGAGCTCGGAGAGGTGGTGCA GCAGGGGCAGAAGAGCTCGGAGAGGTGGTGCA - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GCAGGGGCAGAAGAGCTCGGAGAGGTGGTGCA GCAGGGGCAGAAGAGCTCGGAGAGGTGGTGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 15 28369282 28369313 GCAGGGGCAGAAGAGCTCGGAGAGGTGGTGCA - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.13089_13058 p.L4353fs 1.000:1.000:1.000:0.960:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.103:1.000:1.000:1.000:1.000:0.999:0.999:1.000:1.000:0.947:1.000:1.000:1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 74 0 0 46 13 22.0339 TRAF7 0 genome.wustl.edu 37 16 2225873 2225886 + Frame_Shift_Del DEL GCAGACGTCTGGTG GCAGACGTCTGGTG - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GCAGACGTCTGGTG GCAGACGTCTGGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 16 2225873 2225886 GCAGACGTCTGGTG - DEL TRAF7 ENST00000326181 human ensembl 74_37 +1 known frame_shift_del c.1665_1678 p.T557fs 1.000:1.000:1.000:1.000:1.000:1.000:0.574:0.973:0.988:0.971:1.000:1.000:0.533:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 95 0 0 58 21 26.5823 NCOR1 0 genome.wustl.edu 37 17 16004583 16004588 + In_Frame_Del DEL CATCCA CATCCA - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 CATCCA CATCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 16004583 16004588 CATCCA - DEL NCOR1 ENST00000268712 human ensembl 74_37 -1 known in_frame_del c.2671_2666 p.VD889in_frame_del 1.000:0.941:1.000:1.000:0.997:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 154 0 0 113 27 19.2857 CASC3 0 genome.wustl.edu 37 17 38323804 38323809 + In_Frame_Del DEL GCCAGA GCCAGA - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GCCAGA GCCAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 38323804 38323809 GCCAGA - DEL CASC3 ENST00000264645 human ensembl 74_37 +1 known in_frame_del c.1590_1595 p.EP532in_frame_del 0.946:1.000:0.999:0.326:0.998:0.998 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 82 0 0 48 10 17.2414 GNGT2 0 genome.wustl.edu 37 17 47284216 47284223 + Frame_Shift_Del DEL TCCTTGAT TCCTTGAT - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 TCCTTGAT TCCTTGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 17 47284216 47284223 TCCTTGAT - DEL GNGT2 ENST00000300406 human ensembl 74_37 -1 known frame_shift_del c.113_106 p.I36fs 0.967:1.000:1.000:1.000:1.000:0.999:1.000:1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT2 HGNC ENSG00000167083 127 0 0 122 23 15.8621 ELANE 0 genome.wustl.edu 37 19 855771 855778 + Frame_Shift_Del DEL GGCCGGCA GGCCGGCA - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GGCCGGCA GGCCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 19 855771 855778 GGCCGGCA - DEL ELANE ENST00000263621 human ensembl 74_37 +1 known frame_shift_del c.574_581 p.Q194fs 0.002:0.015:0.008:0.204:0.205:0.052:0.029:0.017 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 112 0 0 90 15 14.2857 TUBA4A 0 genome.wustl.edu 37 2 220115634 220115645 + In_Frame_Del DEL GGTAGGGCACCA GGTAGGGCACCA - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GGTAGGGCACCA GGTAGGGCACCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 2 220115634 220115645 GGTAGGGCACCA - DEL TUBA4A ENST00000248437 human ensembl 74_37 -1 known in_frame_del c.787_776 p.LVPY259in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 150 0 0 75 21 21.875 GOLGB1 0 genome.wustl.edu 37 3 121410874 121410893 + Frame_Shift_Del DEL AGCTGATTGGTTTTATCAAC AGCTGATTGGTTTTATCAAC - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 AGCTGATTGGTTTTATCAAC AGCTGATTGGTTTTATCAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 121410874 121410893 AGCTGATTGGTTTTATCAAC - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.7322_7303 p.V2435fs 0.998:1.000:1.000:0.979:0.972:0.913:0.869:0.877:0.871:0.870:0.892:0.886:0.806:0.636:0.345:0.341:0.227:0.209:0.204:0.093 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 134 0 0 116 11 8.66142 TMEM44 0 genome.wustl.edu 37 3 194346695 194346719 + Frame_Shift_Del DEL CTGCTAGGTAGGCACCAGTGAAAAC CTGCTAGGTAGGCACCAGTGAAAAC - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 CTGCTAGGTAGGCACCAGTGAAAAC CTGCTAGGTAGGCACCAGTGAAAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 194346695 194346719 CTGCTAGGTAGGCACCAGTGAAAAC - DEL TMEM44 ENST00000392432 human ensembl 74_37 -1 known frame_shift_del c.289_265 p.V89fs 0.997:0.998:1.000:0.996:0.838:0.991:0.999:1.000:1.000:1.000:0.998:0.979:0.936:0.839:0.975:0.977:0.917:0.993:1.000:1.000:1.000:0.989:0.770:0.989:1.000 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 117 0 0 95 24 20.1681 GNAT1 0 genome.wustl.edu 37 3 50231018 50231029 + In_Frame_Del DEL AGCGGCTGTGGA AGCGGCTGTGGA - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 AGCGGCTGTGGA AGCGGCTGTGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 3 50231018 50231029 AGCGGCTGTGGA - DEL GNAT1 ENST00000232461 human ensembl 74_37 +1 known in_frame_del c.371_382 p.RLWK125in_frame_del 1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 120 0 0 68 8 10.5263 COX18 0 genome.wustl.edu 37 4 73935315 73935332 + In_Frame_Del DEL GCTGCAGGGCAGGGAGCG GCTGCAGGGCAGGGAGCG - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 GCTGCAGGGCAGGGAGCG GCTGCAGGGCAGGGAGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 4 73935315 73935332 GCTGCAGGGCAGGGAGCG - DEL COX18 ENST00000295890 human ensembl 74_37 -1 known in_frame_del c.52_35 p.PLPALQ12in_frame_del 0.000:0.001:0.001:0.012:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.015:0.006:0.003:0.021:0.033:0.002:0.000 NULL pfam_Membrane_insert_OXA1/ALB3/YidC - no_errors COX18 HGNC ENSG00000163626 8 0 0 4 2 33.3333 TRERF1 0 genome.wustl.edu 37 6 42227417 42227417 + Frame_Shift_Del DEL C C - TCGA-D7-A6EZ-01A-11D-A31L-08 TCGA-D7-A6EZ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 032b6245-13c5-45a9-9a71-6a2c8d7772f7 cd33fe15-4ef2-48d2-afee-1ce7baeda119 6 42227417 42227417 C - DEL TRERF1 ENST00000541110 human ensembl 74_37 -1 known frame_shift_del c.1989 p.E663fs 0.977 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 231 0 0 143 45 23.9362