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 ADAM30 0 genome.wustl.edu 37 1 120437529 120437529 + Nonsense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 120437529 120437529 G T SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known nonsense c.1431 p.C477* 0.980 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin 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 ADAM30 HGNC ENSG00000134249 163 1 0.609756 120 12 9.09091 GJA8 0 genome.wustl.edu 37 1 147381081 147381081 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 147381081 147381081 C T SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known silent c.999 p.G333 0.000 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 20 0 0 13 6 31.5789 FLG 0 genome.wustl.edu 37 1 152285654 152285654 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 152285654 152285654 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1708 p.Q570K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 830 1 0.120337 809 209 20.5305 MROH9 0 genome.wustl.edu 37 1 170967420 170967420 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 170967420 170967420 G T SNP MROH9 ENST00000367758 human ensembl 74_37 +1 known missense c.1601 p.S534I 1.000 NULL superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 271 0 0 281 20 6.64452 PAPPA2 0 genome.wustl.edu 37 1 176526217 176526217 + Silent SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 176526217 176526217 C A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.759 p.T253 0.539 superfamily_ConA-like_lec_gl_sf pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 105 0 0 89 12 11.8812 HP1BP3 0 genome.wustl.edu 37 1 21076258 21076258 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 21076258 21076258 A G SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known missense c.1099 p.Y367H 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 225 0 0 199 24 10.7623 MORN1 0 genome.wustl.edu 37 1 2290081 2290081 + Missense_Mutation SNP G G C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 2290081 2290081 G C SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.819 p.N273K 0.987 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 83 0 0 87 31 26.2712 ARV1 0 genome.wustl.edu 37 1 231131557 231131557 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 231131557 231131557 C T SNP ARV1 ENST00000310256 human ensembl 74_37 +1 known missense c.500 p.P167L 0.242 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 138 0 0 135 8 5.59441 ZDHHC18 0 genome.wustl.edu 37 1 27159097 27159097 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 27159097 27159097 C T SNP ZDHHC18 ENST00000374142 human ensembl 74_37 +1 known silent c.495 p.I165 0.932 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC18 HGNC ENSG00000204160 131 0 0 80 6 6.97674 PIK3CD 0 genome.wustl.edu 37 1 9770626 9770626 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 1 9770626 9770626 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.113 p.R38H 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 192 0 0 176 22 11.1111 SORCS1 0 genome.wustl.edu 37 10 108458997 108458997 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 10 108458997 108458997 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1388 p.G463D 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 145 0 0 129 8 5.83942 FRMPD2 0 genome.wustl.edu 37 10 49420007 49420007 + Missense_Mutation SNP T T G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 10 49420007 49420007 T G SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1601 p.K534T 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 40 0 0 47 7 12.963 NRG3 0 genome.wustl.edu 37 10 84738724 84738724 + Nonsense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 10 84738724 84738724 C A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known nonsense c.1431 p.C477* 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 44 0 0 54 3 5.26316 GRID1 0 genome.wustl.edu 37 10 87482893 87482893 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 10 87482893 87482893 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1864 p.E622K 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 38 0 0 36 4 10 REXO2 0 genome.wustl.edu 37 11 114320834 114320834 + RNA SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 114320834 114320834 G A SNP REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 51 0 0 38 5 11.6279 SIK3 0 genome.wustl.edu 37 11 116718205 116718205 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 116718205 116718205 A T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.3795 p.D1265E 0.765 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 294 0 0 263 31 10.5442 OR6X1 0 genome.wustl.edu 37 11 123624910 123624910 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 123624910 123624910 C T SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.317 p.G106D 0.805 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 OR6X1 HGNC ENSG00000221931 123 0 0 106 9 7.82609 ADAMTS8 0 genome.wustl.edu 37 11 130278390 130278390 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 130278390 130278390 T C SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.2068 p.R690G 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 217 1 0.458716 211 32 13.1687 OR4D6 0 genome.wustl.edu 37 11 59224624 59224624 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 59224624 59224624 G A SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known missense c.191 p.R64Q 0.009 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 OR4D6 HGNC ENSG00000166884 189 0 0 182 10 5.20833 MS4A13 0 genome.wustl.edu 37 11 60285672 60285672 + Nonsense_Mutation SNP T T A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 60285672 60285672 T A SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known nonsense c.116 p.L39* 0.888 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 114 0 0 104 8 7.14286 MAP3K11 0 genome.wustl.edu 37 11 65365945 65365945 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 65365945 65365945 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.2361 p.R787 0.997 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 41 0 0 27 2 6.89655 CNTN5 0 genome.wustl.edu 37 11 99827732 99827732 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 11 99827732 99827732 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.868 p.R290C 0.278 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 59 0 0 50 11 18.0328 EP400 0 genome.wustl.edu 37 12 132497672 132497672 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 12 132497672 132497672 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.3668 p.R1223H 0.819 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 50 0 0 41 6 12.766 DDX51 0 genome.wustl.edu 37 12 132627302 132627302 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 12 132627302 132627302 C T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.641 p.R214Q 0.675 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 122 0 0 110 10 8.33333 TMEM106C 0 genome.wustl.edu 37 12 48359740 48359740 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 12 48359740 48359740 C A SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known missense c.371 p.T124K 0.013 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106C HGNC ENSG00000134291 453 0 0 393 75 16.0256 KCNA6 0 genome.wustl.edu 37 12 4920073 4920073 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 12 4920073 4920073 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.866 p.P289L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 178 0 0 144 24 14.2857 KDELC1 0 genome.wustl.edu 37 13 103446097 103446097 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 13 103446097 103446097 C T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.448 p.E150K 0.865 pfam_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 264 0 0 303 30 9.00901 TNFRSF19 0 genome.wustl.edu 37 13 24190168 24190168 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 13 24190168 24190168 G A SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.343 p.G115R 1.000 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 121 0 0 91 14 13.3333 ABCC4 0 genome.wustl.edu 37 13 95859004 95859004 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 13 95859004 95859004 A T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.943 p.C315S 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_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 345 0 0 377 31 7.59804 OR4L1 0 genome.wustl.edu 37 14 20529107 20529107 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 14 20529107 20529107 C T SNP OR4L1 ENST00000315683 human ensembl 74_37 +1 known missense c.904 p.R302W 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 155 0 0 128 12 8.57143 SPTBN5 0 genome.wustl.edu 37 15 42143986 42143986 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 15 42143986 42143986 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.10647 p.G3549 0.000 smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 108 0 0 76 6 7.31707 ADAM10 0 genome.wustl.edu 37 15 58920052 58920052 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 15 58920052 58920052 C T SNP ADAM10 ENST00000260408 human ensembl 74_37 -1 known missense c.1207 p.E403K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 202 0 0 155 12 7.18563 NOMO1 0 genome.wustl.edu 37 16 14970589 14970589 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 14970589 14970589 C T SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.2585 p.A862V 0.997 superfamily_Collagen-bd_Cna_B-typ_dom pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 657 0 0 587 47 7.41325 SRCAP 0 genome.wustl.edu 37 16 30750658 30750658 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 30750658 30750658 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.9297 p.S3099 0.967 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 81 0 0 68 6 8.10811 PYCARD 0 genome.wustl.edu 37 16 31213016 31213016 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 31213016 31213016 G A SNP PYCARD ENST00000247470 human ensembl 74_37 -1 known missense c.478 p.R160W 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_CARD,pfscan_DAPIN - no_errors PYCARD HGNC ENSG00000103490 147 0 0 112 14 11.1111 SLX4 0 genome.wustl.edu 37 16 3639390 3639390 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 3639390 3639390 T C SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.4249 p.S1417G 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 164 0 0 132 11 7.69231 DYNC1LI2 0 genome.wustl.edu 37 16 66759770 66759770 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 66759770 66759770 G A SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.1339 p.P447S 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 281 0 0 260 19 6.81004 ELMO3 0 genome.wustl.edu 37 16 67237416 67237416 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 67237416 67237416 C A SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known missense c.2039 p.A680D 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 88 0 0 72 4 5.26316 RBFOX1 0 genome.wustl.edu 37 16 7383011 7383011 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 16 7383011 7383011 G A SNP RBFOX1 ENST00000311745 human ensembl 74_37 +1 known silent c.9 p.A3 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 269 0 0 277 20 6.73401 C17orf76-AS1 0 genome.wustl.edu 37 17 16342391 16342391 + RNA SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 17 16342391 16342391 T C SNP C17orf76-AS1 ENST00000470491 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 47 0 0 46 3 6.12245 TBX21 0 genome.wustl.edu 37 17 45822578 45822578 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 17 45822578 45822578 C T SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known missense c.1454 p.P485L 0.997 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 67 0 0 55 10 15.3846 ITGA3 0 genome.wustl.edu 37 17 48155636 48155636 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 17 48155636 48155636 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.2285 p.T762I 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 154 1 0.645161 107 6 5.30973 RNF43 0 genome.wustl.edu 37 17 56439907 56439907 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 17 56439907 56439907 G A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.685 p.P229S 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 128 0 0 93 13 12.2642 CSHL1 0 genome.wustl.edu 37 17 61987336 61987336 + Nonsense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 17 61987336 61987336 C T SNP CSHL1 ENST00000561003 human ensembl 74_37 -1 novel nonsense c.408 p.W136* 0.000 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core - no_errors CSHL1 HGNC ENSG00000204414 180 0 0 130 12 8.4507 MYH10 0 genome.wustl.edu 37 17 8390909 8390909 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 17 8390909 8390909 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.4858 p.R1620W 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 280 0 0 283 44 13.4557 NFATC1 0 genome.wustl.edu 37 18 77246937 77246937 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 18 77246937 77246937 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2782 p.V928I 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 75 0 0 52 6 10.3448 ZNF823 0 genome.wustl.edu 37 19 11832637 11832637 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 19 11832637 11832637 C T SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known missense c.1712 p.R571Q 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 ZNF823 HGNC ENSG00000197933 190 0 0 164 18 9.89011 LRRC4B 0 genome.wustl.edu 37 19 51021776 51021776 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 19 51021776 51021776 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known silent c.1194 p.T398 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 45 0 0 30 5 14.2857 ELAVL1 0 genome.wustl.edu 37 19 8028580 8028580 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 19 8028580 8028580 G A SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known silent c.849 p.D283 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 111 0 0 91 6 6.18557 MUC16 0 genome.wustl.edu 37 19 9047614 9047614 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 19 9047614 9047614 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34017 p.E11339D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 258 0 0 237 33 12.2222 C2orf27A 0 genome.wustl.edu 37 2 132508372 132508372 + RNA SNP T T G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 2 132508372 132508372 T G SNP C2orf27A ENST00000463645 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors C2orf27A HGNC ENSG00000197927 44 0 0 41 5 10.8696 GPBAR1 0 genome.wustl.edu 37 2 219128380 219128380 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 2 219128380 219128380 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known silent c.933 p.P311 0.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 61 0 0 59 8 11.9403 ZNF142 0 genome.wustl.edu 37 2 219508125 219508125 + Silent SNP G G C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 2 219508125 219508125 G C SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known silent c.3114 p.L1038 0.992 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 119 0 0 101 9 8.18182 PRKCE 0 genome.wustl.edu 37 2 46203682 46203682 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 2 46203682 46203682 A G SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.527 p.Y176C 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 156 1 0.636943 144 14 8.86076 SIRPB1 0 genome.wustl.edu 37 20 1592289 1592289 + Silent SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 20 1592289 1592289 C A SNP SIRPB1 ENST00000279477 human ensembl 74_37 -1 known silent c.147 p.S49 0.634 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 93 0 0 90 13 12.6214 PREX1 0 genome.wustl.edu 37 20 47276504 47276504 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 20 47276504 47276504 G A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.1834 p.R612C 0.983 superfamily_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 161 0 0 110 6 5.17241 GRIK1 0 genome.wustl.edu 37 21 31015233 31015233 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 21 31015233 31015233 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known silent c.1011 p.R337 0.799 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 98 0 0 90 10 10 KLHL22 0 genome.wustl.edu 37 22 20819530 20819530 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 22 20819530 20819530 T C SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.727 p.T243A 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 70 0 0 46 3 6.12245 APOL6 0 genome.wustl.edu 37 22 36054692 36054692 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 22 36054692 36054692 C T SNP APOL6 ENST00000409652 human ensembl 74_37 +1 known silent c.81 p.D27 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 82 0 0 83 5 5.68182 NIT2 0 genome.wustl.edu 37 3 100058731 100058731 + Nonsense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 3 100058731 100058731 C T SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known nonsense c.199 p.Q67* 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 145 0 0 129 11 7.85714 HCLS1 0 genome.wustl.edu 37 3 121350700 121350700 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 3 121350700 121350700 A G SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known missense c.1454 p.L485P 0.919 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 113 0 0 88 9 9.27835 CNTN4 0 genome.wustl.edu 37 3 3085346 3085346 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 3 3085346 3085346 A C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2769 p.Q923H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CNTN4 HGNC ENSG00000144619 89 0 0 75 7 8.53659 KIF15 0 genome.wustl.edu 37 3 44879787 44879787 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 3 44879787 44879787 C T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known silent c.3192 p.D1064 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 109 0 0 92 9 8.91089 TADA3 0 genome.wustl.edu 37 3 9832967 9832967 + Missense_Mutation SNP G G C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 3 9832967 9832967 G C SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.184 p.R62G 1.000 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 79 0 0 70 9 11.3924 SLIT2 0 genome.wustl.edu 37 4 20533667 20533667 + Silent SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 4 20533667 20533667 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1674 p.P558 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 62 0 0 75 12 13.7931 SHROOM3 0 genome.wustl.edu 37 4 77675760 77675760 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 4 77675760 77675760 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.4124 p.R1375Q 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 38 0 0 29 2 6.45161 PCDHA3 0 genome.wustl.edu 37 5 140181583 140181583 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 140181583 140181583 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.801 p.T267 0.932 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 188 0 0 166 14 7.77778 PCDHA4 0 genome.wustl.edu 37 5 140188293 140188293 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 140188293 140188293 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1521 p.Y507 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 70 0 0 58 12 17.1429 PCDHB6 0 genome.wustl.edu 37 5 140531925 140531925 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 140531925 140531925 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2087 p.S696L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 219 1 0.454545 212 20 8.62069 PCDH1 0 genome.wustl.edu 37 5 141243883 141243883 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 141243883 141243883 C T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.2013 p.L671 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 143 0 0 108 27 20 UNC5A 0 genome.wustl.edu 37 5 176304597 176304597 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 176304597 176304597 G A SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.1528 p.V510I 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 63 0 0 41 10 19.6078 BDP1 0 genome.wustl.edu 37 5 70763277 70763277 + Missense_Mutation SNP T T A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 70763277 70763277 T A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.882 p.F294L 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 337 0 0 331 48 12.6649 OR12D3 0 genome.wustl.edu 37 6 29342887 29342887 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 6 29342887 29342887 A C SNP OR12D3 ENST00000396806 human ensembl 74_37 -1 known missense c.178 p.F60V 0.917 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 OR12D3 HGNC ENSG00000112462 81 0 0 65 6 8.4507 ABCC10 0 genome.wustl.edu 37 6 43400462 43400462 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 6 43400462 43400462 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.744 p.C248 0.947 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 94 0 0 57 3 5 CNR1 0 genome.wustl.edu 37 6 88854343 88854343 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 6 88854343 88854343 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.651 p.S217 0.963 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 67 0 0 44 5 10.2041 SND1 0 genome.wustl.edu 37 7 127725833 127725833 + Splice_Site SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 127725833 127725833 G A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known splice_site c.2304+1 e20+1 1.000 - - - no_errors SND1 HGNC ENSG00000197157 131 0 0 99 16 13.913 OPN1SW 0 genome.wustl.edu 37 7 128412618 128412618 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 128412618 128412618 C T SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known silent c.1023 p.S341 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 72 0 0 80 11 12.0879 KBTBD2 0 genome.wustl.edu 37 7 32910203 32910203 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 32910203 32910203 C T SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.626 p.R209Q 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 154 0 0 125 20 13.7931 CLIP2 0 genome.wustl.edu 37 7 73753314 73753314 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 73753314 73753314 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.658 p.R220C 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 73 0 0 47 4 7.84314 COL28A1 0 genome.wustl.edu 37 7 7421221 7421221 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 7421221 7421221 A T SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.2159 p.F720Y 0.009 pfam_Collagen pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 280 0 0 281 20 6.64452 PCLO 0 genome.wustl.edu 37 7 82582923 82582923 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 82582923 82582923 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.7346 p.V2449G 0.989 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 69 0 0 61 9 12.8571 GNGT1 0 genome.wustl.edu 37 7 93536131 93536131 + Nonsense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 7 93536131 93536131 G T SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known nonsense c.73 p.E25* 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 GNGT1 HGNC ENSG00000127928 98 0 0 100 9 8.25688 RP1L1 0 genome.wustl.edu 37 8 10468213 10468213 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 10468213 10468213 A G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.3395 p.L1132P 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 117 1 0.847458 76 8 9.52381 DCSTAMP 0 genome.wustl.edu 37 8 105368424 105368424 + Nonstop_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 105368424 105368424 T C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known nonstop c.1411 p.*471R 0.032 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 75 0 0 50 10 16.6667 CSMD3 0 genome.wustl.edu 37 8 113256718 113256718 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 113256718 113256718 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10307 p.Y3436C 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 156 0 0 157 12 7.10059 COL14A1 0 genome.wustl.edu 37 8 121222070 121222070 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 121222070 121222070 T C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.1397 p.V466A 0.920 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 144 1 0.689655 150 9 5.66038 KCNU1 0 genome.wustl.edu 37 8 36691097 36691097 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 36691097 36691097 A C SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1132 p.T378P 0.978 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 88 0 0 102 11 9.73451 AP3M2 0 genome.wustl.edu 37 8 42012342 42012342 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 42012342 42012342 C T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.137 p.P46L 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 125 0 0 89 6 6.31579 PXDNL 0 genome.wustl.edu 37 8 52321476 52321476 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 52321476 52321476 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2708 p.S903L 0.991 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 68 0 0 56 4 6.66667 PCMTD1 0 genome.wustl.edu 37 8 52773689 52773689 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 52773689 52773689 C A SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.23 p.G8V 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 135 0 0 114 6 5 PCMTD1 0 genome.wustl.edu 37 8 52773690 52773690 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 52773690 52773690 C A SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.22 p.G8W 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 136 0 0 114 6 5 PREX2 0 genome.wustl.edu 37 8 69032431 69032431 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 8 69032431 69032431 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3505 p.V1169L 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 139 0 0 139 12 7.94702 ASTN2 0 genome.wustl.edu 37 9 119380718 119380718 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 9 119380718 119380718 A T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3240 p.S1080R 1.000 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 177 1 0.561798 137 15 9.86842 SETX 0 genome.wustl.edu 37 9 135205649 135205649 + Nonsense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 9 135205649 135205649 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known nonsense c.1336 p.Q446* 0.997 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 194 0 0 154 15 8.87574 SLC35D2 0 genome.wustl.edu 37 9 99086398 99086398 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 9 99086398 99086398 G T SNP SLC35D2 ENST00000253270 human ensembl 74_37 -1 known missense c.806 p.T269K 0.994 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35D2 HGNC ENSG00000130958 153 0 0 160 9 5.32544 BTK 0 genome.wustl.edu 37 X 100630297 100630297 + RNA SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 X 100630297 100630297 T C SNP BTK ENST00000464567 human ensembl 74_37 -1 known rna NULL NULL 0.690 - - - no_errors BTK HGNC ENSG00000010671 165 0 0 171 37 17.7885 G6PD 0 genome.wustl.edu 37 X 153760800 153760800 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 X 153760800 153760800 G A SNP G6PD ENST00000369620 human ensembl 74_37 -1 known silent c.1407 p.T469 1.000 pfam_G6P_DH_C,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 129 0 0 111 16 12.5984 CLCN5 0 genome.wustl.edu 37 X 49854898 49854898 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 X 49854898 49854898 C T SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.1870 p.R624W 0.670 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 145 0 0 126 38 23.1707 ZCCHC5 0 genome.wustl.edu 37 X 77912678 77912678 + Missense_Mutation SNP T T A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 X 77912678 77912678 T A SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.1240 p.S414C 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 88 0 0 122 15 10.9489 BRWD3 0 genome.wustl.edu 37 X 79932138 79932138 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 X 79932138 79932138 C T SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known silent c.5379 p.R1793 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 94 0 0 83 5 5.68182 PCDH1 0 genome.wustl.edu 37 5 141244796 141244796 + Frame_Shift_Del DEL T T - TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 5 141244796 141244796 T - DEL PCDH1 ENST00000287008 human ensembl 74_37 -1 known frame_shift_del c.1100 p.K367fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 211 0 0 159 26 14.0541 CUL9 0 genome.wustl.edu 37 6 43191861 43191861 + Frame_Shift_Del DEL C C - TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 6 43191861 43191861 C - DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_del c.7313 p.S2438fs 0.076 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 179 0 0 184 12 6.12245