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 ABCC2 0 genome.wustl.edu 37 10 101567177 101567177 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 101567177 101567177 G T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.1567 p.D523Y 0.149 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 53 0 0.00 44 4 8.33 ABCC3 0 genome.wustl.edu 37 17 48746804 48746804 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 48746804 48746804 G T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.2156 p.R719L 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 tier1 - - 86 0 0.00 64 4 5.88 ABCC4 0 genome.wustl.edu 37 13 95839035 95839035 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 95839035 95839035 G T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.1465 p.L489M 0.872 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 - - 57 0 0.00 70 4 5.41 ABLIM3 0 genome.wustl.edu 37 5 148622066 148622066 + Missense_Mutation SNP A A C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 148622066 148622066 A C SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.1316 p.N439T 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 69 0 0.00 38 2 5.00 ACCSL 0 genome.wustl.edu 37 11 44074280 44074280 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 44074280 44074280 G A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.841 p.E281K 0.560 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 tier1 - - 82 0 0.00 84 5 5.56 ACE2 0 genome.wustl.edu 37 X 15584415 15584415 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 15584415 15584415 G A SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.2075 p.S692F 0.000 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 tier1 - - 49 0 0.00 40 6 13.04 ADAM12 0 genome.wustl.edu 37 10 127726813 127726813 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 127726813 127726813 C T SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known silent c.2355 p.P785 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 tier1 - - 39 0 0.00 46 12 20.69 ADAMTS2 0 genome.wustl.edu 37 5 178566959 178566959 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 178566959 178566959 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.1707 p.P569 0.011 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 77 0 0.00 62 4 6.06 ADD2 0 genome.wustl.edu 37 2 70900406 70900406 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 70900406 70900406 G T SNP ADD2 ENST00000355733 human ensembl 74_37 -1 putative missense c.1794 p.F598L 0.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 - - 61 0 0.00 47 9 16.07 AKT2 0 genome.wustl.edu 37 19 40740796 40740796 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 40740796 40740796 G A SNP AKT2 ENST00000579047 human ensembl 74_37 -1 putative missense c.1336 p.P446S 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 tier1 - - 181 0 0.00 91 8 8.08 ALDH1A2 0 genome.wustl.edu 37 15 58284937 58284937 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 58284937 58284937 C T SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.764 p.G255D 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 tier1 rs114474932 - 79 0 0.00 58 5 7.94 ALKBH4 0 genome.wustl.edu 37 7 102100206 102100206 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 102100206 102100206 C T SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known missense c.166 p.V56M 0.019 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 tier1 - - 150 0 0.00 85 8 8.60 ALOX15 0 genome.wustl.edu 37 17 4540525 4540525 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 4540525 4540525 G T SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.902 p.S301Y 0.972 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 tier1 - - 76 0 0.00 64 4 5.88 ALPK3 0 genome.wustl.edu 37 15 85370715 85370715 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 85370715 85370715 G T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.789 p.R263S 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 55 0 0.00 55 4 6.78 ALS2 0 genome.wustl.edu 37 2 202622353 202622353 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 202622353 202622353 C A SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.1243 p.A415S 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 34 0 0.00 76 4 5.00 AMOTL2 0 genome.wustl.edu 37 3 134089688 134089688 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 134089688 134089688 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known silent c.588 p.L196 0.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 34 0 0.00 21 6 22.22 AMPH 0 genome.wustl.edu 37 7 38468286 38468286 + RNA SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 38468286 38468286 A G SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 49 0 0.00 58 4 6.45 ANKRD26P1 0 genome.wustl.edu 37 16 46532145 46532145 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 46532145 46532145 G A SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 18 0 0.00 19 5 20.83 ANKRD30BP2 0 genome.wustl.edu 37 21 14424175 14424175 + RNA SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 14424175 14424175 C A SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 531 0 0.00 311 38 10.89 ANKRD31 0 genome.wustl.edu 37 5 74441831 74441831 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 74441831 74441831 C T SNP ANKRD31 ENST00000274361 human ensembl 74_37 -1 known silent c.3405 p.K1135 0.003 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 tier1 - - 111 0 0.00 96 16 14.16 ANO2 0 genome.wustl.edu 37 12 5841762 5841762 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 5841762 5841762 C G SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.1472 p.R491P 0.999 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 106 0 0.00 104 18 14.75 AP5B1 0 genome.wustl.edu 37 11 65546631 65546631 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 65546631 65546631 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel silent c.1333 p.L445 0.998 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 tier1 - - 42 0 0.00 39 4 9.30 AP5M1 0 genome.wustl.edu 37 14 57753022 57753022 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 57753022 57753022 C G SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.1375 p.P459A 1.000 superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 46 0 0.00 56 6 9.68 ARFGEF2 0 genome.wustl.edu 37 20 47587679 47587679 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 47587679 47587679 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1213 p.V405M 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 77 0 0.00 101 24 19.20 ARHGAP40 0 genome.wustl.edu 37 20 37255680 37255680 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 37255680 37255680 C T SNP ARHGAP40 ENST00000373345 human ensembl 74_37 +1 known missense c.221 p.S74L 0.035 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 tier1 - - 67 0 0.00 70 9 11.39 ARHGEF1 0 genome.wustl.edu 37 19 42408469 42408469 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 42408469 42408469 G C SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.2140 p.D714H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 - - 18 0 0.00 21 5 19.23 ARHGEF11 0 genome.wustl.edu 37 1 156911690 156911690 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 156911690 156911690 G T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known silent c.3418 p.R1140 0.983 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 54 0 0.00 51 4 7.27 ARHGEF17 0 genome.wustl.edu 37 11 73020556 73020556 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 73020556 73020556 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known silent c.873 p.G291 0.751 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 30 0 0.00 16 5 23.81 ARL4C 0 genome.wustl.edu 37 2 235405081 235405081 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 235405081 235405081 C T SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known silent c.150 p.E50 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 tier1 - - 76 0 0.00 46 8 14.55 ARL5A 0 genome.wustl.edu 37 2 152668909 152668909 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 152668909 152668909 C T SNP ARL5A ENST00000295087 human ensembl 74_37 -1 known missense c.301 p.V101I 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 114 0 0.00 51 4 7.27 ASAP1 0 genome.wustl.edu 37 8 131199511 131199511 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 131199511 131199511 G T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.501 p.D167E 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 85 0 0.00 68 4 5.56 ASB1 0 genome.wustl.edu 37 2 239353340 239353340 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 239353340 239353340 G T SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.852 p.E284D 0.999 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 tier1 - - 109 0 0.00 65 4 5.80 ASB2 0 genome.wustl.edu 37 14 94404059 94404059 + Missense_Mutation SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 94404059 94404059 T C SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known missense c.1612 p.I538V 0.997 pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 tier1 - - 59 0 0.00 47 4 7.84 ASPHD2 0 genome.wustl.edu 37 22 26830127 26830127 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 22 26830127 26830127 C T SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known silent c.546 p.D182 0.234 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 tier1 - - 74 0 0.00 49 16 24.62 ASXL1 0 genome.wustl.edu 37 20 31024392 31024392 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 31024392 31024392 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.3877 p.D1293N 0.007 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 80 0 0.00 81 12 12.90 ATM 0 genome.wustl.edu 37 11 108216597 108216597 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 108216597 108216597 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.8546 p.R2849Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 89 0 0.00 81 7 7.95 ATP10A 0 genome.wustl.edu 37 15 25928510 25928510 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 25928510 25928510 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3415 p.G1139R 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 37 0 0.00 41 4 8.89 ATP12A 0 genome.wustl.edu 37 13 25272866 25272866 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 25272866 25272866 G T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.1601 p.R534L 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 29 0 0.00 34 2 5.56 ATP13A1 0 genome.wustl.edu 37 19 19760549 19760549 + Splice_Site SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 19760549 19760549 C T SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known splice_site c.2535+1 e18+1 1.000 - - - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 30 0 0.00 31 4 11.43 ATP13A1 0 genome.wustl.edu 37 19 19767686 19767686 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 19767686 19767686 C T SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.946 p.E316K 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 144 0 0.00 70 4 5.41 ATP1A2 0 genome.wustl.edu 37 1 160098826 160098826 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 160098826 160098826 C T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1273 p.L425F 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 96 0 0.00 46 3 6.12 ATR 0 genome.wustl.edu 37 3 142218487 142218487 + Nonsense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 142218487 142218487 C A SNP ATR ENST00000350721 human ensembl 74_37 -1 known nonsense c.5362 p.E1788* 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 97 0 0.00 73 5 6.41 ATXN1L 0 genome.wustl.edu 37 16 71885639 71885639 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 71885639 71885639 G T SNP ATXN1L ENST00000427980 human ensembl 74_37 +1 known missense c.1996 p.A666S 0.989 NULL pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 tier1 - - 62 0 0.00 48 4 7.69 B4GALNT4 0 genome.wustl.edu 37 11 373228 373228 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 373228 373228 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known silent c.573 p.S191 0.984 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 - - 57 0 0.00 54 4 6.90 BANP 0 genome.wustl.edu 37 16 88105097 88105097 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 88105097 88105097 C T SNP BANP ENST00000481948 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors BANP HGNC ENSG00000172530 tier1 - - 34 0 0.00 47 5 9.62 BBS4 0 genome.wustl.edu 37 15 73002069 73002069 + Nonsense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 73002069 73002069 G T SNP BBS4 ENST00000567279 human ensembl 74_37 +1 known nonsense c.163 p.E55* 1.000 NULL NULL - no_errors BBS4 HGNC ENSG00000140463 tier1 - - 88 0 0.00 72 7 8.86 BCAN 0 genome.wustl.edu 37 1 156621307 156621307 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 156621307 156621307 G C SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.1123 p.D375H 0.987 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 tier1 - - 81 0 0.00 51 7 12.07 BCAN 0 genome.wustl.edu 37 1 156621337 156621337 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 156621337 156621337 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.1153 p.E385K 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 tier1 - - 88 0 0.00 59 6 9.23 BCOR 0 genome.wustl.edu 37 X 39914677 39914677 + Nonsense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 39914677 39914677 G C SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.4685 p.S1562* 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 - - 46 0 0.00 68 12 15.00 BIRC3 0 genome.wustl.edu 37 11 102201960 102201960 + Nonsense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 102201960 102201960 G T SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known nonsense c.1312 p.E438* 1.000 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 tier1 - - 84 0 0.00 48 4 7.69 BLM 0 genome.wustl.edu 37 15 91292721 91292721 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 91292721 91292721 G A SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.223 p.E75K 0.093 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 tier1 - - 100 0 0.00 88 6 6.32 BRD4 0 genome.wustl.edu 37 19 15366318 15366318 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 15366318 15366318 C T SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.1837 p.E613K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 52 0 0.00 43 5 10.42 BRPF3 0 genome.wustl.edu 37 6 36168850 36168850 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 36168850 36168850 G A SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.751 p.E251K 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 tier1 - - 43 0 0.00 34 4 10.53 C12orf55 0 genome.wustl.edu 37 12 97045517 97045517 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 97045517 97045517 C G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.5024 p.S1675C 0.002 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 130 0 0.00 98 11 10.09 C19orf52 0 genome.wustl.edu 37 19 11040151 11040151 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 11040151 11040151 G A SNP C19orf52 ENST00000270502 human ensembl 74_37 +1 known missense c.556 p.D186N 1.000 pfam_DUF2366 pfam_DUF2366 - no_errors C19orf52 HGNC ENSG00000142444 tier1 - - 68 0 0.00 100 7 6.54 C1QTNF2 0 genome.wustl.edu 37 5 159776454 159776454 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 159776454 159776454 C T SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known silent c.714 p.G238 0.089 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 tier1 - - 43 0 0.00 42 4 8.70 C2orf71 0 genome.wustl.edu 37 2 29297065 29297065 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 29297065 29297065 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.63 p.F21 0.990 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 87 0 0.00 73 7 8.75 C6orf118 0 genome.wustl.edu 37 6 165703509 165703509 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 165703509 165703509 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.1168 p.E390K 0.010 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 45 0 0.00 47 7 12.96 C8orf46 0 genome.wustl.edu 37 8 67425869 67425869 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 67425869 67425869 G C SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.437 p.R146T 0.919 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 tier1 - - 56 0 0.00 50 23 31.51 C9orf84 0 genome.wustl.edu 37 9 114510480 114510480 + Splice_Site SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 114510480 114510480 C T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known splice_site c.671-1 e6-1 0.988 - - - no_errors C9orf84 HGNC ENSG00000165181 tier1 - - 50 0 0.00 50 6 10.71 CADM3 0 genome.wustl.edu 37 1 159163319 159163319 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 159163319 159163319 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known silent c.591 p.L197 1.000 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 tier1 - - 60 0 0.00 31 5 13.89 CAMKV 0 genome.wustl.edu 37 3 49897669 49897669 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 49897669 49897669 C G SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.877 p.D293H 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 tier1 - - 76 0 0.00 53 13 19.70 CAMTA2 0 genome.wustl.edu 37 17 4883117 4883117 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 4883117 4883117 G T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.1569 p.P523 0.996 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 72 0 0.00 60 4 6.25 CAPRIN2 0 genome.wustl.edu 37 12 30881712 30881712 + Missense_Mutation SNP T T A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 30881712 30881712 T A SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.1652 p.N551I 0.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 tier1 - - 137 0 0.00 174 23 11.68 CASC5 0 genome.wustl.edu 37 15 40947148 40947148 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 40947148 40947148 G T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.6535 p.D2179Y 0.118 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 53 0 0.00 62 4 6.06 CCDC27 0 genome.wustl.edu 37 1 3677928 3677928 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 3677928 3677928 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known silent c.795 p.L265 0.006 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 72 0 0.00 51 4 7.27 CCDC93 0 genome.wustl.edu 37 2 118732778 118732778 + Nonsense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 118732778 118732778 G A SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known nonsense c.736 p.R246* 0.977 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 tier1 - - 46 0 0.00 41 5 10.87 CCIN 0 genome.wustl.edu 37 9 36169562 36169562 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 36169562 36169562 G T SNP CCIN ENST00000335119 human ensembl 74_37 +1 known missense c.63 p.Q21H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 tier1 - - 86 0 0.00 51 4 7.27 CD3EAP 0 genome.wustl.edu 37 19 45912504 45912504 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 45912504 45912504 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.1284 p.K428N 0.931 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 62 0 0.00 38 2 5.00 CDC27 0 genome.wustl.edu 37 17 45209685 45209685 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 45209685 45209685 G T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.1987 p.H663N 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 91 0 0.00 73 4 5.19 CDH23 0 genome.wustl.edu 37 10 73492057 73492057 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 73492057 73492057 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative silent c.4044 p.L1348 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 101 0 0.00 38 5 11.63 CEP164 0 genome.wustl.edu 37 11 117222658 117222658 + Missense_Mutation SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 117222658 117222658 A G SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.347 p.K116R 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 102 0 0.00 57 3 5.00 CFH 0 genome.wustl.edu 37 1 196715031 196715031 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 196715031 196715031 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.3395 p.S1132L 0.024 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 124 0 0.00 96 7 6.80 CFP 0 genome.wustl.edu 37 X 47489004 47489004 + Frame_Shift_Del DEL C C - TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 47489004 47489004 C - DEL CFP ENST00000247153 human ensembl 74_37 -1 known frame_shift_del c.146 p.G49fs 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 tier1 69 0 0.00 35 2 5.41 CHADL 0 genome.wustl.edu 37 22 41633274 41633274 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 22 41633274 41633274 G A SNP CHADL ENST00000216241 human ensembl 74_37 -1 known missense c.1802 p.S601L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHADL HGNC ENSG00000100399 tier1 - - 87 0 0.00 60 22 26.83 CLN8 0 genome.wustl.edu 37 8 1728586 1728586 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 1728586 1728586 G T SNP CLN8 ENST00000331222 human ensembl 74_37 +1 known silent c.714 p.L238 0.423 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors CLN8 HGNC ENSG00000182372 tier1 - - 67 0 0.00 74 4 5.13 CMTM8 0 genome.wustl.edu 37 3 32398870 32398870 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 32398870 32398870 G T SNP CMTM8 ENST00000307526 human ensembl 74_37 +1 known silent c.153 p.L51 0.957 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors CMTM8 HGNC ENSG00000170293 tier1 - - 55 0 0.00 73 4 5.19 CNBD2 0 genome.wustl.edu 37 20 34556687 34556687 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 34556687 34556687 G A SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.3 p.M1I 0.986 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 tier1 - - 30 0 0.00 41 6 12.77 CNGB3 0 genome.wustl.edu 37 8 87588200 87588200 + Silent SNP A A C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 87588200 87588200 A C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known silent c.2262 p.P754 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 118 0 0.00 130 11 7.80 CNTN1 0 genome.wustl.edu 37 12 41423007 41423007 + Missense_Mutation SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 41423007 41423007 A G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2966 p.Q989R 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 73 0 0.00 36 6 14.29 COG4 0 genome.wustl.edu 37 16 70551570 70551570 + Nonsense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 70551570 70551570 C A SNP COG4 ENST00000323786 human ensembl 74_37 -1 known nonsense c.328 p.E110* 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 tier1 - - 61 0 0.00 52 7 11.86 COL4A4 0 genome.wustl.edu 37 2 227872752 227872752 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 227872752 227872752 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known silent c.4791 p.I1597 0.010 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 131 0 0.00 78 7 8.24 COL6A2 0 genome.wustl.edu 37 21 47542073 47542073 + Splice_Site SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 47542073 47542073 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known splice_site c.1572+1 e18+1 1.000 - - - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 87 0 0.00 58 7 10.77 COPB1 0 genome.wustl.edu 37 11 14487906 14487906 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 14487906 14487906 C G SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.2212 p.D738H 1.000 pfam_Coatomer_bsu_C,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 tier1 - - 57 0 0.00 65 9 12.16 CPAMD8 0 genome.wustl.edu 37 19 17091354 17091354 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 17091354 17091354 G T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1679 p.A560D 0.016 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 79 0 0.00 65 4 5.80 CPEB4 0 genome.wustl.edu 37 5 173372061 173372061 + Nonsense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 173372061 173372061 C A SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known nonsense c.1374 p.C458* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 tier1 - - 124 0 0.00 73 4 5.19 CPNE1 0 genome.wustl.edu 37 20 34219461 34219461 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 34219461 34219461 G C SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known missense c.682 p.L228V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 tier1 - - 69 0 0.00 61 5 7.46 CPNE2 0 genome.wustl.edu 37 16 57171066 57171066 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 57171066 57171066 G C SNP CPNE2 ENST00000290776 human ensembl 74_37 +1 known missense c.1174 p.D392H 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE2 HGNC ENSG00000140848 tier1 - - 119 0 0.00 113 13 10.32 CRIP2 0 genome.wustl.edu 37 14 105945384 105945384 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 105945384 105945384 G A SNP CRIP2 ENST00000329146 human ensembl 74_37 +1 known missense c.406 p.A136T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP2 HGNC ENSG00000182809 tier1 - - 9 0 0.00 7 5 41.67 CSE1L 0 genome.wustl.edu 37 20 47710696 47710697 + Frame_Shift_Ins INS - - A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 47710696 47710697 - A INS CSE1L ENST00000262982 human ensembl 74_37 +1 known frame_shift_ins c.2467_2468 p.I825fs 1.000:1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 tier1 119 0 0.00 63 17 21.25 CSF3R 0 genome.wustl.edu 37 1 36931763 36931763 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 36931763 36931763 C G SNP CSF3R ENST00000331941 human ensembl 74_37 -1 known missense c.2286 p.Q762H 0.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 tier1 - - 76 0 0.00 63 9 12.50 CWF19L2 0 genome.wustl.edu 37 11 107207409 107207409 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 107207409 107207409 C G SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.2233 p.E745Q 1.000 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 60 0 0.00 63 6 8.70 DAB2 0 genome.wustl.edu 37 5 39390613 39390613 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 39390613 39390613 C T SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.395 p.R132Q 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 tier1 - - 74 0 0.00 59 6 9.09 DAO 0 genome.wustl.edu 37 12 109273444 109273444 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 109273444 109273444 C T SNP DAO ENST00000548052 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DAO HGNC ENSG00000110887 tier1 - - 99 0 0.00 68 11 13.92 DCLK1 0 genome.wustl.edu 37 13 36382446 36382446 + Missense_Mutation SNP T T G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 36382446 36382446 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1778 p.D593A 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 68 0 0.00 39 3 7.14 DGKD 0 genome.wustl.edu 37 2 234355361 234355361 + Nonsense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 234355361 234355361 G A SNP DGKD ENST00000264057 human ensembl 74_37 +1 known nonsense c.1338 p.W446* 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 tier1 - - 26 0 0.00 31 9 22.50 DNAH1 0 genome.wustl.edu 37 3 52386669 52386669 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 52386669 52386669 G T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.2973 p.Q991H 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 42 0 0.00 33 4 10.81 DNAH11 0 genome.wustl.edu 37 7 21603811 21603811 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 21603811 21603811 C G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.990 p.L330 0.004 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 46 0 0.00 39 5 11.36 DNAH6 0 genome.wustl.edu 37 2 84934741 84934741 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 84934741 84934741 G T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.8949 p.Q2983H 0.388 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 97 0 0.00 69 4 5.48 DNAJB11 0 genome.wustl.edu 37 3 186314912 186314912 + Missense_Mutation SNP T T A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 186314912 186314912 T A SNP DNAJB11 ENST00000538831 human ensembl 74_37 +1 known missense c.148 p.L50I 0.005 pfam_DUF2346 pfam_DUF2346 - no_errors DNAJB11 HGNC ENSG00000090520 tier1 - - 198 0 0.00 172 12 6.52 DNAJB11 0 genome.wustl.edu 37 3 186299223 186299223 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 186299223 186299223 G C SNP DNAJB11 ENST00000265028 human ensembl 74_37 +1 known missense c.520 p.E174Q 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB11 HGNC ENSG00000090520 59 0 0.00 34 5 12.82 DSCR3 0 genome.wustl.edu 37 21 38600650 38600650 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 38600650 38600650 G T SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.532 p.L178I 0.993 pfam_VPS26 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 33 0 0.00 45 3 6.25 DSG3 0 genome.wustl.edu 37 18 29036436 29036436 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 29036436 29036436 G C SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.82 p.E28Q 0.813 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 tier1 - - 201 0 0.00 110 14 11.20 DSG3 0 genome.wustl.edu 37 18 29039116 29039116 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 29039116 29039116 G C SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.493 p.E165Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 tier1 - - 129 0 0.00 77 5 6.10 DST 0 genome.wustl.edu 37 6 56471743 56471743 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 56471743 56471743 C G SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.7584 p.V2528 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 39 0 0.00 39 3 7.14 EFNA4 0 genome.wustl.edu 37 1 155039318 155039318 + Missense_Mutation SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 155039318 155039318 T C SNP EFNA4 ENST00000427683 human ensembl 74_37 +1 known missense c.226 p.Y76H 0.995 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 112 0 0.00 73 4 5.19 EME1 0 genome.wustl.edu 37 17 48452978 48452978 + Missense_Mutation SNP A A C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 48452978 48452978 A C SNP EME1 ENST00000393271 human ensembl 74_37 +1 known missense c.409 p.K137Q 0.140 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 74 0 0.00 65 7 9.72 EMR2 0 genome.wustl.edu 37 19 14862359 14862359 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 14862359 14862359 C G SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.1913 p.S638T 0.002 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 tier1 - - 73 0 0.00 44 7 13.73 EMR4P 0 genome.wustl.edu 37 19 6957087 6957087 + RNA SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 6957087 6957087 G T SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.247 - - - no_errors EMR4P HGNC ENSG00000268758 tier1 - - 100 0 0.00 70 4 5.41 ENSG00000225946 0 genome.wustl.edu 37 7 100608253 100608253 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 100608253 100608253 G A SNP ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 - - 56 0 0.00 55 7 11.29 ENSG00000232807 0 genome.wustl.edu 37 10 5978603 5978603 + RNA SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 5978603 5978603 G C SNP ENSG00000232807 ENST00000397264 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-536K7.3 Clone_based_vega_gene ENSG00000232807 tier1 - - 48 0 0.00 56 14 20.00 ENSG00000237457 0 genome.wustl.edu 37 1 190449679 190449679 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 190449679 190449679 G A SNP ENSG00000237457 ENST00000424735 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-547I7.2 Clone_based_vega_gene ENSG00000237457 18 0 0.00 22 3 12.00 ENSG00000261711 0 genome.wustl.edu 37 16 34713056 34713056 + RNA SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 34713056 34713056 G C SNP ENSG00000261711 ENST00000564452 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 tier1 - - 17 0 0.00 16 4 20.00 ENSG00000270017 0 genome.wustl.edu 37 15 95398993 95398993 + RNA SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 95398993 95398993 A G SNP ENSG00000270017 ENST00000602330 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors CTD-2576F9.2 Clone_based_vega_gene ENSG00000270017 tier1 - - 68 0 0.00 94 5 5.05 ENSG00000272135 0 genome.wustl.edu 37 10 124580468 124580468 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 124580468 124580468 C T SNP ENSG00000272135 ENST00000442370 human ensembl 74_37 +1 known rna NULL NULL 0.097 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000272135 tier1 - - 51 0 0.00 54 6 10.00 ERBB3 0 genome.wustl.edu 37 12 56495395 56495395 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 56495395 56495395 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3585 p.E1195D 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 156 0 0.00 81 5 5.81 EVL 0 genome.wustl.edu 37 14 100604120 100604120 + Nonsense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 100604120 100604120 C T SNP EVL ENST00000392920 human ensembl 74_37 +1 known nonsense c.1075 p.Q359* 1.000 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 - - 74 0 0.00 63 4 5.97 FAM102A 0 genome.wustl.edu 37 9 130710474 130710474 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 130710474 130710474 G T SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.492 p.I164 1.000 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 92 0 0.00 66 4 5.71 FAM107B 0 genome.wustl.edu 37 10 14563922 14563922 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 14563922 14563922 C G SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.750 p.K250N 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 tier1 - - 134 0 0.00 114 10 8.06 FAM149B1 0 genome.wustl.edu 37 10 74953335 74953335 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 74953335 74953335 G A SNP FAM149B1 ENST00000242505 human ensembl 74_37 +1 known missense c.526 p.E176K 1.000 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 tier1 - - 87 0 0.00 62 5 7.46 FAM86B2 0 genome.wustl.edu 37 8 12283440 12283440 + Silent SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 12283440 12283440 A G SNP FAM86B2 ENST00000262365 human ensembl 74_37 -1 known silent c.951 p.Y317 0.108 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 tier1 - - 13 0 0.00 6 3 33.33 FBN1 0 genome.wustl.edu 37 15 48719785 48719785 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 48719785 48719785 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.7183 p.G2395R 1.000 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 68 0 0.00 35 4 10.26 FBXO39 0 genome.wustl.edu 37 17 6683203 6683203 + Nonsense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 6683203 6683203 G T SNP FBXO39 ENST00000321535 human ensembl 74_37 +1 known nonsense c.16 p.E6* 0.002 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 tier1 - - 79 0 0.00 65 4 5.80 FCHSD2 0 genome.wustl.edu 37 11 72700022 72700022 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 72700022 72700022 C T SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known missense c.508 p.D170N 1.000 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 tier1 - - 60 0 0.00 72 8 10.00 FCN2 0 genome.wustl.edu 37 9 137774464 137774464 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 137774464 137774464 G T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.193 p.A65S 0.949 pfam_Collagen pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 54 0 0.00 55 3 5.17 FGD2 0 genome.wustl.edu 37 6 36988338 36988338 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 36988338 36988338 G A SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known missense c.1144 p.E382K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 tier1 - - 113 0 0.00 93 7 7.00 FGF17 0 genome.wustl.edu 37 8 21905658 21905658 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 21905658 21905658 G T SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known silent c.549 p.L183 0.999 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 25 0 0.00 38 4 9.52 FMN2 0 genome.wustl.edu 37 1 240458161 240458161 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 240458161 240458161 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4193 p.T1398N 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 95 0 0.00 90 8 8.16 FMO1 0 genome.wustl.edu 37 1 171227264 171227264 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 171227264 171227264 G T SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.38 p.S13I 0.138 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 tier1 - - 80 0 0.00 45 4 8.16 FOLH1 0 genome.wustl.edu 37 11 49204779 49204779 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 49204779 49204779 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.842 p.R281H 0.843 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs116795343 - 141 0 0.00 130 8 5.80 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs76509850 - 114 0 0.00 118 10 7.81 FOXF2 0 genome.wustl.edu 37 6 1390656 1390656 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 1390656 1390656 C T SNP FOXF2 ENST00000259806 human ensembl 74_37 +1 known silent c.474 p.F158 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 tier1 - - 71 0 0.00 70 12 14.63 FOXR2 0 genome.wustl.edu 37 X 55650499 55650499 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 55650499 55650499 G A SNP FOXR2 ENST00000339140 human ensembl 74_37 +1 known missense c.355 p.G119R 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 tier1 - - 37 0 0.00 36 11 23.40 FREM2 0 genome.wustl.edu 37 13 39424334 39424334 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 39424334 39424334 G T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6539 p.R2180L 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 53 0 0.00 20 3 13.04 FRMPD3 0 genome.wustl.edu 37 X 106841057 106841059 + In_Frame_Del DEL GAG GAG - TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 106841057 106841059 GAG - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.2047_2049 p.E686in_frame_del 1.000:1.000:1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 38 0 0.00 20 3 13.04 FYB 0 genome.wustl.edu 37 5 39202037 39202037 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 39202037 39202037 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.1056 p.P352 0.017 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 201 0 0.00 264 14 5.02 FZR1 0 genome.wustl.edu 37 19 3525967 3525967 + Nonsense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 3525967 3525967 G A SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known nonsense c.171 p.W57* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 tier1 - - 66 0 0.00 50 4 7.41 GALNT10 0 genome.wustl.edu 37 5 153677529 153677529 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 153677529 153677529 C T SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known silent c.291 p.P97 0.996 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 65 0 0.00 62 11 15.07 GCM2 0 genome.wustl.edu 37 6 10877413 10877413 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 10877413 10877413 C T SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.303 p.L101 0.997 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 tier1 - - 38 0 0.00 46 6 11.54 GCOM1 0 genome.wustl.edu 37 15 57922037 57922037 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 57922037 57922037 G T SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.663 p.Q221H 1.000 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 91 0 0.00 75 4 5.06 GLG1 0 genome.wustl.edu 37 16 74527017 74527017 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 74527017 74527017 G A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.1072 p.R358C 0.905 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 110 0 0.00 84 13 13.40 GLI3 0 genome.wustl.edu 37 7 42085103 42085103 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 42085103 42085103 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.706 p.E236K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 74 0 0.00 84 15 15.15 GNG11 0 genome.wustl.edu 37 7 93551468 93551468 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 93551468 93551468 G C SNP GNG11 ENST00000248564 human ensembl 74_37 +1 known missense c.19 p.E7Q 1.000 superfamily_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom 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 GNG11 HGNC ENSG00000127920 tier1 rs141442326 - 134 0 0.00 97 9 8.49 GPBP1L1 0 genome.wustl.edu 37 1 46121010 46121011 + RNA DEL GA GA - TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 46121010 46121011 GA - DEL GPBP1L1 ENST00000496278 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.013 - - - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 101 0 0.00 74 12 13.95 GPR173 0 genome.wustl.edu 37 X 53105819 53105819 + Nonsense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 53105819 53105819 G T SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known nonsense c.16 p.G6* 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 tier1 - - 43 0 0.00 39 4 9.09 GRAMD4 0 genome.wustl.edu 37 22 47069633 47069633 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 22 47069633 47069633 G A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1306 p.A436T 0.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 tier1 - - 121 0 0.00 85 15 15.00 GRIK3 0 genome.wustl.edu 37 1 37270660 37270660 + Silent SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 37270660 37270660 C A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.2493 p.G831 0.995 pfam_Iontro_glu_rcpt,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 GRIK3 HGNC ENSG00000163873 55 0 0.00 70 4 5.41 GRPEL2 0 genome.wustl.edu 37 5 148732528 148732528 + RNA SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 148732528 148732528 A G SNP GRPEL2 ENST00000507562 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GRPEL2 HGNC ENSG00000164284 tier1 - - 40 0 0.00 33 8 19.51 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 251 0 0.00 284 21 6.89 H6PD 0 genome.wustl.edu 37 1 9324422 9324422 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 9324422 9324422 G T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.1870 p.V624F 1.000 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 23 0 0.00 15 2 11.76 HAUS5 0 genome.wustl.edu 37 19 36106012 36106012 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 36106012 36106012 G A SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known silent c.288 p.Q96 1.000 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 tier1 - - 54 0 0.00 50 7 12.28 HCFC1 0 genome.wustl.edu 37 X 153221703 153221703 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 153221703 153221703 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.2795 p.S932L 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 73 0 0.00 68 19 21.84 HELZ2 0 genome.wustl.edu 37 20 62194139 62194139 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 62194139 62194139 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.6036 p.L2012 0.326 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 52 0 0.00 76 5 6.17 HERC2 0 genome.wustl.edu 37 15 28419589 28419589 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 28419589 28419589 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10009 p.P3337S 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 tier1 - - 103 0 0.00 98 38 27.94 HGS 0 genome.wustl.edu 37 17 79667621 79667621 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 79667621 79667621 G T SNP HGS ENST00000329138 human ensembl 74_37 +1 known silent c.2007 p.A669 0.866 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 44 0 0.00 35 2 5.41 HILPDA 0 genome.wustl.edu 37 7 128098193 128098193 + RNA SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 128098193 128098193 G T SNP HILPDA ENST00000466473 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors HILPDA HGNC ENSG00000135245 tier1 - - 42 0 0.00 71 9 11.25 HIPK2 0 genome.wustl.edu 37 7 139416675 139416675 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 139416675 139416675 C G SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.159 p.Q53H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 tier1 - - 124 0 0.00 84 6 6.67 HLTF 0 genome.wustl.edu 37 3 148759441 148759441 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 148759441 148759441 C G SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.2212 p.E738Q 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 tier1 - - 70 0 0.00 57 13 18.57 HMCN2 0 genome.wustl.edu 37 9 133274986 133274986 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 133274986 133274986 G A SNP HMCN2 ENST00000480829 human ensembl 74_37 +1 known rna NULL NULL 0.953 - - - no_errors HMCN2 HGNC ENSG00000148357 tier1 - - 100 0 0.00 67 10 12.99 HRC 0 genome.wustl.edu 37 19 49657886 49657886 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 49657886 49657886 C T SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.609 p.E203 0.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 24 0 0.00 25 4 13.79 HSH2D 0 genome.wustl.edu 37 19 16268428 16268428 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 16268428 16268428 G A SNP HSH2D ENST00000588246 human ensembl 74_37 +1 putative missense c.883 p.E295K 0.000 NULL pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors HSH2D HGNC ENSG00000196684 tier1 - - 98 0 0.00 53 4 7.02 HUNK 0 genome.wustl.edu 37 21 33346945 33346945 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 33346945 33346945 C G SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.1089 p.I363M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 28 0 0.00 19 4 17.39 IFT88 0 genome.wustl.edu 37 13 21265264 21265264 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 21265264 21265264 G A SNP IFT88 ENST00000319980 human ensembl 74_37 +1 known missense c.2452 p.E818K 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 tier1 - - 210 0 0.00 105 25 19.23 IKBKB 0 genome.wustl.edu 37 8 42188469 42188469 + Missense_Mutation SNP A A T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 42188469 42188469 A T SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known missense c.2243 p.E748V 0.356 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 tier1 - - 86 0 0.00 43 14 24.56 IL10RB 0 genome.wustl.edu 37 21 34655516 34655516 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 34655516 34655516 G C SNP IL10RB ENST00000290200 human ensembl 74_37 +1 known missense c.616 p.E206Q 0.396 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL10RB HGNC ENSG00000243646 tier1 - - 56 0 0.00 81 7 7.95 IL16 0 genome.wustl.edu 37 15 81558085 81558085 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 81558085 81558085 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known silent c.507 p.L169 0.951 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 86 0 0.00 80 6 6.98 IL16 0 genome.wustl.edu 37 15 81561931 81561931 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 81561931 81561931 C G SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.617 p.S206C 0.047 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 64 0 0.00 64 8 11.11 IL16 0 genome.wustl.edu 37 15 81595959 81595959 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 81595959 81595959 G A SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.3388 p.G1130R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 65 0 0.00 71 12 14.46 IL36B 0 genome.wustl.edu 37 2 113788674 113788674 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 113788674 113788674 C G SNP IL36B ENST00000259213 human ensembl 74_37 -1 known silent c.72 p.L24 0.009 superfamily_Cytokine_IL1-like superfamily_Cytokine_IL1-like - no_errors IL36B HGNC ENSG00000136696 tier1 - - 115 0 0.00 84 7 7.69 IQGAP1 0 genome.wustl.edu 37 15 90992790 90992790 + Splice_Site SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 90992790 90992790 G C SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known splice_site c.1078-1 e11-1 0.996 - - - no_errors IQGAP1 HGNC ENSG00000140575 59 0 0.00 54 3 5.26 ITGAM 0 genome.wustl.edu 37 16 31341910 31341910 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 31341910 31341910 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.3263 p.A1088V 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 53 0 0.00 53 7 11.67 KANSL1 0 genome.wustl.edu 37 17 44109060 44109060 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 44109060 44109060 G A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.3100 p.P1034S 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 tier1 - - 69 0 0.00 52 7 11.86 KCNA4 0 genome.wustl.edu 37 11 30034880 30034880 + RNA SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 30034880 30034880 G C SNP KCNA4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 72 0 0.00 57 7 10.94 KCNC4 0 genome.wustl.edu 37 1 110765753 110765753 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 110765753 110765753 C G SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known silent c.846 p.T282 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 tier1 - - 33 0 0.00 37 4 9.76 KCNH6 0 genome.wustl.edu 37 17 61622620 61622620 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 61622620 61622620 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2686 p.A896T 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 77 0 0.00 84 6 6.67 KCNK1 0 genome.wustl.edu 37 1 233749986 233749986 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 233749986 233749986 C T SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known silent c.69 p.F23 0.998 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 26 0 0.00 25 3 10.71 KCTD16 0 genome.wustl.edu 37 5 143586748 143586748 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 143586748 143586748 C G SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.471 p.L157 0.976 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 114 0 0.00 82 7 7.87 KCTD18 0 genome.wustl.edu 37 2 201363707 201363707 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 201363707 201363707 C G SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.473 p.R158T 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 tier1 - - 80 0 0.00 97 11 10.19 KCTD7 0 genome.wustl.edu 37 7 66103973 66103973 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 66103973 66103973 C T SNP KCTD7 ENST00000275532 human ensembl 74_37 +1 known silent c.624 p.N208 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 tier1 - - 48 0 0.00 37 6 13.95 KDM4A 0 genome.wustl.edu 37 1 44137335 44137335 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 44137335 44137335 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1523 p.S508L 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 81 0 0.00 53 8 13.11 KEL 0 genome.wustl.edu 37 7 142640001 142640001 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 142640001 142640001 C A SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1902 p.E634D 0.898 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 47 0 0.00 29 2 6.45 KIAA1109 0 genome.wustl.edu 37 4 123128701 123128701 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 123128701 123128701 C G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1660 p.L554V 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 71 0 0.00 77 5 6.10 KIAA1109 0 genome.wustl.edu 37 4 123176314 123176314 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 123176314 123176314 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.6254 p.S2085I 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 59 0 0.00 51 4 7.27 KIAA1522 0 genome.wustl.edu 37 1 33237497 33237497 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 33237497 33237497 C T SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.2717 p.S906L 0.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 tier1 - - 22 0 0.00 10 4 28.57 KIAA1755 0 genome.wustl.edu 37 20 36855583 36855583 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 36855583 36855583 G A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known silent c.2025 p.L675 0.002 superfamily_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 83 0 0.00 80 19 19.19 KIDINS220 0 genome.wustl.edu 37 2 8890375 8890375 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 8890375 8890375 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.3281 p.G1094E 0.004 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 65 0 0.00 28 2 6.67 KIF17 0 genome.wustl.edu 37 1 21014222 21014222 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 21014222 21014222 C G SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.1597 p.E533Q 0.041 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 53 0 0.00 36 10 21.74 KIF21A 0 genome.wustl.edu 37 12 39696800 39696800 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 39696800 39696800 C A SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.4701 p.K1567N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 118 0 0.00 77 7 8.33 KIF5B 0 genome.wustl.edu 37 10 32327107 32327107 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 32327107 32327107 C T SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.482 p.R161Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 tier1 - - 71 0 0.00 49 10 16.95 KIF7 0 genome.wustl.edu 37 15 90193070 90193070 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 90193070 90193070 G A SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.431 p.S144F 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 tier1 - - 94 0 0.00 68 4 5.56 KLB 0 genome.wustl.edu 37 4 39450011 39450011 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 39450011 39450011 C G SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.2840 p.S947C 0.042 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 tier1 - - 100 0 0.00 66 9 11.84 KLHL33 0 genome.wustl.edu 37 14 20898456 20898456 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 20898456 20898456 C T SNP KLHL33 ENST00000344581 human ensembl 74_37 -1 known missense c.379 p.E127K 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 tier1 - - 54 0 0.00 39 7 15.22 LAMB1 0 genome.wustl.edu 37 7 107615724 107615724 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 107615724 107615724 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.1324 p.E442K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 68 0 0.00 45 7 13.46 LANCL1 0 genome.wustl.edu 37 2 211300158 211300158 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 211300158 211300158 C G SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.1076 p.G359A 1.000 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 tier1 - - 126 0 0.00 93 9 8.82 LAP3 0 genome.wustl.edu 37 4 17586670 17586670 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 17586670 17586670 G T SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known silent c.615 p.T205 0.107 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 62 0 0.00 42 4 8.70 LCE1F 0 genome.wustl.edu 37 1 152749016 152749016 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 152749016 152749016 G A SNP LCE1F ENST00000334371 human ensembl 74_37 +1 known missense c.169 p.G57R 0.980 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 tier1 - - 130 0 0.00 145 25 14.71 LEO1 0 genome.wustl.edu 37 15 52239554 52239554 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 52239554 52239554 C A SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.1831 p.D611Y 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 59 0 0.00 59 4 6.35 LILRA2 0 genome.wustl.edu 37 19 55087566 55087566 + Silent SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 55087566 55087566 C A SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known silent c.1245 p.L415 0.002 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 tier1 - - 125 0 0.00 79 9 10.23 LIMK1 0 genome.wustl.edu 37 7 73521432 73521432 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 73521432 73521432 G A SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known missense c.974 p.R325H 0.999 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 115 0 0.00 154 11 6.67 LINC00846 0 genome.wustl.edu 37 21 33946984 33946984 + RNA SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 33946984 33946984 C A SNP LINC00846 ENST00000334165 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors LINC00846 HGNC ENSG00000186842 tier1 - - 61 0 0.00 72 5 6.49 LINGO1 0 genome.wustl.edu 37 15 77907918 77907918 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 77907918 77907918 C G SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.331 p.E111Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 45 0 0.00 35 5 12.50 LINGO3 0 genome.wustl.edu 37 19 2290967 2290967 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 2290967 2290967 G T SNP LINGO3 ENST00000404279 human ensembl 74_37 -1 known missense c.809 p.A270E 0.900 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO3 HGNC ENSG00000220008 tier1 - - 11 0 0.00 12 6 33.33 LOC100505635 0 genome.wustl.edu 37 6 39866755 39866755 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 39866755 39866755 C T SNP LOC100505635 ENST00000437947 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-61I13.3 Clone_based_vega_gene ENSG00000235033 tier1 - - 85 0 0.00 75 6 7.41 LOC101927188 0 genome.wustl.edu 37 18 6956516 6956516 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 6956516 6956516 C T SNP LOC101927188 ENST00000584722 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-781P6.1 Clone_based_vega_gene ENSG00000265069 tier1 - - 60 0 0.00 56 4 6.15 LOC284837 0 genome.wustl.edu 37 21 45231438 45231438 + RNA SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 21 45231438 45231438 G T SNP LOC284837 ENST00000400385 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors AP001053.11 Clone_based_vega_gene ENSG00000215458 tier1 - - 71 0 0.00 63 4 5.97 LOXL3 0 genome.wustl.edu 37 2 74779641 74779641 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 74779641 74779641 C T SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.121 p.G41R 1.000 superfamily_Srcr_rcpt-rel pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 tier1 - - 64 0 0.00 55 14 20.29 LRP12 0 genome.wustl.edu 37 8 105503409 105503409 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 105503409 105503409 G T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.2015 p.A672E 0.834 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 38 0 0.00 40 4 9.09 LRRC37A6P 0 genome.wustl.edu 37 10 27539089 27539089 + RNA SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 27539089 27539089 C A SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 165 0 0.00 93 18 16.22 LRRC4C 0 genome.wustl.edu 37 11 40137176 40137176 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 40137176 40137176 C G SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.667 p.E223Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 33 0 0.00 20 6 23.08 MACF1 0 genome.wustl.edu 37 1 39901420 39901420 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 39901420 39901420 C G SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.11789 p.S3930C 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 48 0 0.00 16 5 23.81 MAGEA6 0 genome.wustl.edu 37 X 151869922 151869922 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 151869922 151869922 C T SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known silent c.612 p.I204 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 tier1 - - 154 0 0.00 121 23 15.97 MALAT1 0 genome.wustl.edu 37 11 65269230 65269230 + RNA SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 65269230 65269230 G T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 115 0 0.00 98 6 5.77 MAMLD1 0 genome.wustl.edu 37 X 149638836 149638836 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 149638836 149638836 C G SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.916 p.L306V 0.136 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 30 0 0.00 22 6 21.43 MAP2 0 genome.wustl.edu 37 2 210543349 210543349 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 210543349 210543349 C A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.316 p.L106M 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 42 0 0.00 48 6 11.11 MAP2K5 0 genome.wustl.edu 37 15 67835662 67835662 + RNA SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 67835662 67835662 C G SNP MAP2K5 ENST00000560591 human ensembl 74_37 +1 known rna NULL NULL 0.135 - - - no_errors MAP2K5 HGNC ENSG00000137764 tier1 - - 111 0 0.00 46 7 13.21 MAP3K3 0 genome.wustl.edu 37 17 61735181 61735181 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 61735181 61735181 G T SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.388 p.D130Y 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 tier1 - - 82 0 0.00 51 4 7.27 MBL1P 0 genome.wustl.edu 37 10 81664784 81664784 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 81664784 81664784 G A SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 59 0 0.00 32 6 15.79 MCOLN3 0 genome.wustl.edu 37 1 85506834 85506834 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 85506834 85506834 C T SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known silent c.255 p.Q85 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 tier1 - - 37 0 0.00 39 8 17.02 MED1 0 genome.wustl.edu 37 17 37565965 37565965 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 37565965 37565965 C G SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.2509 p.D837H 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 54 0 0.00 32 4 11.11 MED14 0 genome.wustl.edu 37 X 40588605 40588606 + RNA INS - - A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 40588605 40588606 - A INS MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 24 0 0.00 34 5 12.82 MEGF8 0 genome.wustl.edu 37 19 42840240 42840240 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 42840240 42840240 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.986 p.S329L 0.045 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 57 0 0.00 54 6 10.00 MIR182 0 genome.wustl.edu 37 7 129410292 129410292 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 129410292 129410292 G A SNP MIR182 ENST00000385255 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR182 HGNC ENSG00000207990 tier1 - - 153 0 0.00 78 10 11.36 MIR205HG 0 genome.wustl.edu 37 1 209605601 209605601 + RNA SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 209605601 209605601 G C SNP MIR205HG ENST00000366437 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MIR205HG HGNC ENSG00000230937 tier1 - - 70 0 0.00 72 8 10.00 MMP11 0 genome.wustl.edu 37 22 24121532 24121532 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 22 24121532 24121532 G A SNP MMP11 ENST00000215743 human ensembl 74_37 +1 known silent c.267 p.L89 0.010 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP11 HGNC ENSG00000099953 tier1 - - 79 0 0.00 80 20 20.00 MMP26 0 genome.wustl.edu 37 11 5009524 5009524 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 5009524 5009524 G C SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.83 p.G28A 0.911 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 tier1 - - 68 0 0.00 53 5 8.62 MOSPD2 0 genome.wustl.edu 37 X 14921098 14921098 + Silent SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 14921098 14921098 G C SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known silent c.549 p.V183 0.618 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 71 0 0.00 41 6 12.77 MPHOSPH8 0 genome.wustl.edu 37 13 20216300 20216300 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 20216300 20216300 G A SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.259 p.D87N 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 tier1 - - 229 0 0.00 93 25 21.19 MPO 0 genome.wustl.edu 37 17 56349125 56349125 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 56349125 56349125 C G SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.2017 p.D673H 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 71 0 0.00 48 20 29.41 MRPL43 0 genome.wustl.edu 37 10 102739014 102739014 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 102739014 102739014 G T SNP MRPL43 ENST00000370242 human ensembl 74_37 -1 known missense c.771 p.S257R 0.684 NULL pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPL43 HGNC ENSG00000055950 tier1 - - 49 0 0.00 43 4 8.51 MRPS17 0 genome.wustl.edu 37 7 56022736 56022736 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 56022736 56022736 C T SNP MRPS17 ENST00000285298 human ensembl 74_37 +1 known silent c.258 p.F86 1.000 superfamily_NA-bd_OB-fold pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold - no_errors MRPS17 HGNC ENSG00000239789 tier1 - - 115 0 0.00 66 10 13.16 MRPS22 0 genome.wustl.edu 37 3 139062880 139062880 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 139062880 139062880 C T SNP MRPS22 ENST00000310776 human ensembl 74_37 +1 known silent c.12 p.L4 0.000 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 tier1 - - 177 0 0.00 114 17 12.98 MSR1 0 genome.wustl.edu 37 8 15998556 15998556 + Splice_Site SNP T T G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 15998556 15998556 T G SNP MSR1 ENST00000381998 human ensembl 74_37 -1 known splice_site c.1034-2 e8-2 0.948 - - - no_errors MSR1 HGNC ENSG00000038945 72 0 0.00 36 5 12.20 MT-ND5 0 genome.wustl.edu 37 MT 12525 12525 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 MT 12525 12525 C A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.189 p.I63M NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 46 0 0.00 10 2 16.67 MT-TL2 0 genome.wustl.edu 37 MT 12324 12324 + RNA SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 MT 12324 12324 C A SNP MT-TL2 ENST00000387456 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TL2 HGNC ENSG00000210191 tier1 - - 47 0 0.00 5 2 28.57 MTAP 0 genome.wustl.edu 37 9 21837923 21837923 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 21837923 21837923 C G SNP MTAP ENST00000380172 human ensembl 74_37 +1 known missense c.364 p.Q122E 0.998 pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP - no_errors MTAP HGNC ENSG00000099810 49 0 0.00 47 6 11.32 MTMR10 0 genome.wustl.edu 37 15 31253256 31253256 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 31253256 31253256 G A SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.586 p.P196S 0.200 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 41 0 0.00 45 6 11.76 MTMR4 0 genome.wustl.edu 37 17 56585555 56585555 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 56585555 56585555 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.632 p.R211H 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 tier1 - - 69 0 0.00 63 10 13.70 MUC16 0 genome.wustl.edu 37 19 9062471 9062471 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 9062471 9062471 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24975 p.L8325F 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 88 0 0.00 46 11 19.30 MUC16 0 genome.wustl.edu 37 19 9085587 9085587 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 9085587 9085587 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.6228 p.G2076 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 78 0 0.00 73 4 5.19 MUC17 0 genome.wustl.edu 37 7 100678697 100678697 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 100678697 100678697 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.4000 p.E1334K 0.023 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 115 0 0.00 86 7 7.45 MUC2 0 genome.wustl.edu 37 11 1079734 1079734 + Silent SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 1079734 1079734 G C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.951 p.V317 0.006 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 111 0 0.00 111 9 7.50 MYBPC1 0 genome.wustl.edu 37 12 102061574 102061574 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 102061574 102061574 G T SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known silent c.2421 p.L807 0.990 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 70 0 0.00 36 2 5.26 MYEOV 0 genome.wustl.edu 37 11 69063413 69063413 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 69063413 69063413 G A SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.496 p.G166R 0.000 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 tier1 - - 69 0 0.00 45 172 79.26 MYH1 0 genome.wustl.edu 37 17 10416983 10416983 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 10416983 10416983 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known silent c.765 p.F255 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 76 0 0.00 62 10 13.89 MYO16 0 genome.wustl.edu 37 13 109318403 109318403 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 109318403 109318403 C A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.132 p.F44L 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 90 0 0.00 39 20 33.90 MYO1A 0 genome.wustl.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 57422572 57422573 0 T INS MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_ins c.3099_3098 p.S1035fs 1.000:1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 63 0 0.00 87 5 5.43 MYOF 0 genome.wustl.edu 37 10 95085666 95085666 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 95085666 95085666 G A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.5188 p.H1730Y 0.977 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 tier1 - - 71 0 0.00 51 7 12.07 NCOR1 0 genome.wustl.edu 37 17 15995266 15995266 + Missense_Mutation SNP T T G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 15995266 15995266 T G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.2927 p.Q976P 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 - - 59 0 0.00 56 9 13.85 NEDD4 0 genome.wustl.edu 37 15 56207921 56207921 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 56207921 56207921 G C SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.1109 p.S370C 0.002 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 tier1 - - 43 0 0.00 43 4 8.51 NELFE 0 genome.wustl.edu 37 6 31922195 31922195 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 31922195 31922195 C T SNP NELFE ENST00000375429 human ensembl 74_37 -1 known missense c.767 p.R256Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 tier1 - - 55 0 0.00 42 11 20.75 NEMF 0 genome.wustl.edu 37 14 50319482 50319482 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 50319482 50319482 G A SNP NEMF ENST00000554162 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NEMF HGNC ENSG00000165525 tier1 - - 25 0 0.00 24 9 27.27 NEU1 0 genome.wustl.edu 37 6 31828301 31828301 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 31828301 31828301 G A SNP NEU1 ENST00000375631 human ensembl 74_37 -1 known missense c.713 p.A238V 0.001 superfamily_Sialidases superfamily_Sialidases - no_errors NEU1 HGNC ENSG00000204386 tier1 - - 50 0 0.00 36 4 10.00 NGEF 0 genome.wustl.edu 37 2 233785105 233785105 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 233785105 233785105 G A SNP NGEF ENST00000264051 human ensembl 74_37 -1 known silent c.717 p.I239 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 tier1 - - 42 0 0.00 56 7 11.11 NLRC4 0 genome.wustl.edu 37 2 32475208 32475208 + Missense_Mutation SNP A A T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 32475208 32475208 A T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.1725 p.F575L 0.996 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 69 0 0.00 34 5 12.82 NLRP7 0 genome.wustl.edu 37 19 55451629 55451629 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 55451629 55451629 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.642 p.T214 0.010 superfamily_P-loop_NTPase,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 NLRP7 HGNC ENSG00000167634 77 0 0.00 75 4 5.06 NPIPB4 0 genome.wustl.edu 37 16 21858850 21858850 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 21858850 21858850 G C SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.133 p.L45V 0.003 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 tier1 - - 341 0 0.00 223 31 12.20 NPTX1 0 genome.wustl.edu 37 17 78445639 78445639 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 78445639 78445639 C T SNP NPTX1 ENST00000306773 human ensembl 74_37 -1 known missense c.970 p.G324R 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 tier1 - - 130 0 0.00 102 12 10.53 NSUN4 0 genome.wustl.edu 37 1 46808187 46808187 + RNA SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 46808187 46808187 G T SNP NSUN4 ENST00000498008 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NSUN4 HGNC ENSG00000117481 tier1 - - 87 0 0.00 59 5 7.81 NTM 0 genome.wustl.edu 37 11 132205624 132205624 + RNA DEL T T - TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 132205624 132205624 T - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 22 0 0.00 32 5 13.51 NUGGC 0 genome.wustl.edu 37 8 27925049 27925049 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 27925049 27925049 G T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.693 p.I231 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 107 0 0.00 72 4 5.26 NUP210L 0 genome.wustl.edu 37 1 153994695 153994695 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 153994695 153994695 G T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.4423 p.P1475T 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 92 0 0.00 81 8 8.99 OBSCN 0 genome.wustl.edu 37 1 228529252 228529252 + Missense_Mutation SNP A A T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 228529252 228529252 A T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.17971 p.I5991F 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 - - 124 0 0.00 122 16 11.59 ODF2 0 genome.wustl.edu 37 9 131260855 131260855 + Splice_Site SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 131260855 131260855 G T SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known splice_site c.2175+1 e18+1 1.000 - - - no_errors ODF2 HGNC ENSG00000136811 88 0 0.00 69 4 5.48 ODF2L 0 genome.wustl.edu 37 1 86820363 86820363 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 86820363 86820363 C T SNP ODF2L ENST00000317336 human ensembl 74_37 -1 known silent c.1617 p.Q539 1.000 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 tier1 - - 45 0 0.00 67 14 17.28 OGFOD1 0 genome.wustl.edu 37 16 56485471 56485471 + RNA SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 56485471 56485471 C A SNP OGFOD1 ENST00000568172 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OGFOD1 HGNC ENSG00000087263 tier1 - - 119 0 0.00 66 4 5.71 OR56A3 0 genome.wustl.edu 37 11 5969263 5969263 + Silent SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 5969263 5969263 G C SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known silent c.687 p.V229 0.937 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 OR56A3 HGNC ENSG00000184478 tier1 - - 42 0 0.00 37 8 17.78 OR5T1 0 genome.wustl.edu 37 11 56044027 56044027 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 56044027 56044027 C T SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.913 p.R305W 0.475 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 56 0 0.00 52 10 16.13 PADI1 0 genome.wustl.edu 37 1 17557135 17557135 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 17557135 17557135 G T SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.1122 p.R374S 0.593 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 94 0 0.00 77 5 6.10 PARP14 0 genome.wustl.edu 37 3 122420099 122420099 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 122420099 122420099 G T SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.2698 p.A900S 0.045 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 tier1 - - 75 0 0.00 62 4 6.06 PCCA 0 genome.wustl.edu 37 13 100909873 100909873 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 100909873 100909873 C T SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.662 p.S221L 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 tier1 - - 71 0 0.00 65 18 21.69 PCDHGB6 0 genome.wustl.edu 37 5 140787790 140787790 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 140787790 140787790 G T SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.21 p.Q7H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 tier1 - - 103 0 0.00 83 10 10.75 PCSK6 0 genome.wustl.edu 37 15 101853633 101853633 + Nonsense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 101853633 101853633 C A SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known nonsense c.2644 p.E882* 0.550 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 tier1 - - 64 0 0.00 68 7 9.33 PDCD6IP 0 genome.wustl.edu 37 3 33840163 33840163 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 33840163 33840163 C T SNP PDCD6IP ENST00000477798 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDCD6IP HGNC ENSG00000170248 tier1 - - 114 0 0.00 83 9 9.78 PDE10A 0 genome.wustl.edu 37 6 165752833 165752833 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 165752833 165752833 C A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.2112 p.K704N 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 112 0 0.00 85 14 14.14 PDPR 0 genome.wustl.edu 37 16 70154466 70154466 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 70154466 70154466 C T SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.71 p.S24F 0.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 65 0 0.00 92 10 9.80 PDS5B 0 genome.wustl.edu 37 13 33275576 33275576 + Splice_Site SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 33275576 33275576 G T SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known splice_site c.1856+1 e16+1 1.000 - - - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 79 0 0.00 38 5 11.63 PEAK1 0 genome.wustl.edu 37 15 77425505 77425505 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 77425505 77425505 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.3919 p.D1307N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 132 0 0.00 74 4 5.13 PHAX 0 genome.wustl.edu 37 5 125939526 125939526 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 125939526 125939526 G T SNP PHAX ENST00000297540 human ensembl 74_37 +1 known missense c.361 p.V121L 1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 tier1 - - 60 0 0.00 51 4 7.27 PHF11 0 genome.wustl.edu 37 13 50099996 50099996 + RNA SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 50099996 50099996 G T SNP PHF11 ENST00000495157 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors PHF11 HGNC ENSG00000136147 tier1 - - 79 0 0.00 47 4 7.84 PHF6 0 genome.wustl.edu 37 X 133547596 133547596 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 133547596 133547596 G T SNP PHF6 ENST00000394292 human ensembl 74_37 +1 known missense c.497 p.G166V 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 tier1 - - 108 0 0.00 61 4 6.15 PID1 0 genome.wustl.edu 37 2 229890767 229890767 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 229890767 229890767 C T SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.334 p.E112K 1.000 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 tier1 - - 54 0 0.00 36 9 20.00 PIK3CB 0 genome.wustl.edu 37 3 138478028 138478028 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 138478028 138478028 G A SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.158 p.S53F 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 tier1 - - 90 0 0.00 55 5 8.33 PKD1P6 0 genome.wustl.edu 37 16 15229188 15229188 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 15229188 15229188 G A SNP PKD1P6 ENST00000538100 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PKD1P6 HGNC ENSG00000250251 tier1 - - 117 0 0.00 152 45 22.84 PKIG 0 genome.wustl.edu 37 20 43243230 43243230 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 43243230 43243230 C T SNP PKIG ENST00000349959 human ensembl 74_37 +1 known silent c.33 p.F11 1.000 pfam_cAMP_dep_PKI pfam_cAMP_dep_PKI - no_errors PKIG HGNC ENSG00000168734 tier1 - - 58 0 0.00 61 7 10.29 PLAU 0 genome.wustl.edu 37 10 75672811 75672811 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 75672811 75672811 G A SNP PLAU ENST00000372764 human ensembl 74_37 +1 known missense c.323 p.R108K 0.151 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 tier1 - - 85 0 0.00 56 7 11.11 PLCG1 0 genome.wustl.edu 37 20 39791013 39791013 + Splice_Site SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 39791013 39791013 G T SNP PLCG1 ENST00000483646 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.464 - - - no_errors PLCG1 HGNC ENSG00000124181 25 0 0.00 36 4 10.00 PLD5 0 genome.wustl.edu 37 1 242263986 242263986 + Missense_Mutation SNP A A T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 242263986 242263986 A T SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.1338 p.D446E 0.965 smart_PLipase_D/transphosphatidylase smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 115 0 0.00 106 9 7.83 PLOD3 0 genome.wustl.edu 37 7 100859262 100859262 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 100859262 100859262 C T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.542 p.R181H 0.487 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 tier1 - - 43 0 0.00 37 6 13.95 PPARGC1B 0 genome.wustl.edu 37 5 149206271 149206271 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 149206271 149206271 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known silent c.288 p.L96 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 tier1 - - 118 0 0.00 74 5 6.33 PPFIBP1 0 genome.wustl.edu 37 12 27829365 27829365 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 27829365 27829365 G C SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.1466 p.R489T 0.001 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 tier1 - - 43 0 0.00 51 5 8.93 PPIB 0 genome.wustl.edu 37 15 64452363 64452363 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 64452363 64452363 G A SNP PPIB ENST00000300026 human ensembl 74_37 -1 known missense c.283 p.R95C 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 tier1 - - 103 0 0.00 67 11 13.92 PPL 0 genome.wustl.edu 37 16 4935905 4935905 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 4935905 4935905 C A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.2751 p.Q917H 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 54 0 0.00 64 4 5.88 PPP1R16B 0 genome.wustl.edu 37 20 37536771 37536771 + Nonsense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 37536771 37536771 C T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known nonsense c.1129 p.Q377* 0.991 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 tier1 - - 121 0 0.00 68 12 15.00 PPY 0 genome.wustl.edu 37 17 42018993 42018993 + Silent SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 42018993 42018993 C A SNP PPY ENST00000225992 human ensembl 74_37 -1 known silent c.30 p.L10 0.997 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PPY HGNC ENSG00000108849 42 0 0.00 70 4 5.41 PRKAA1 0 genome.wustl.edu 37 5 40771927 40771927 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 40771927 40771927 G A SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known silent c.447 p.I149 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 tier1 - - 85 0 0.00 89 7 7.29 PRKCD 0 genome.wustl.edu 37 3 53212438 53212438 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 53212438 53212438 C T SNP PRKCD ENST00000477794 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors PRKCD HGNC ENSG00000163932 tier1 - - 58 0 0.00 76 13 14.61 PRPSAP1 0 genome.wustl.edu 37 17 74326692 74326692 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 74326692 74326692 G A SNP PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known silent c.519 p.F173 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 tier1 - - 116 0 0.00 68 20 22.73 PSME4 0 genome.wustl.edu 37 2 54092485 54092486 + RNA INS - - A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 54092485 54092486 - A INS PSME4 ENST00000476586 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.998 - - - no_errors PSME4 HGNC ENSG00000068878 tier1 20 0 0.00 24 4 14.29 PSMG2 0 genome.wustl.edu 37 18 12725469 12725469 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 12725469 12725469 G C SNP PSMG2 ENST00000317615 human ensembl 74_37 +1 known missense c.734 p.W245S 1.000 pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 tier1 - - 155 0 0.00 121 17 12.32 PTCH1 0 genome.wustl.edu 37 9 98222023 98222023 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 98222023 98222023 G T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2746 p.P916T 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 78 0 0.00 51 4 7.27 PTGDR2 0 genome.wustl.edu 37 11 60621068 60621068 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 60621068 60621068 G A SNP PTGDR2 ENST00000332539 human ensembl 74_37 -1 known missense c.128 p.S43L 0.002 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt - no_errors PTGDR2 HGNC ENSG00000183134 tier1 - - 67 0 0.00 90 7 7.22 PTH2R 0 genome.wustl.edu 37 2 209307162 209307162 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 209307162 209307162 C A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.485 p.A162D 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 tier1 - - 62 0 0.00 92 8 8.00 PTPN13 0 genome.wustl.edu 37 4 87556416 87556416 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 87556416 87556416 G T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.7 p.V3L 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,smart_KIND pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 77 0 0.00 69 4 5.48 PTPN14 0 genome.wustl.edu 37 1 214705695 214705695 + RNA SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 214705695 214705695 C A SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.061 - - - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 75 0 0.00 48 4 7.69 PURG 0 genome.wustl.edu 37 8 30890189 30890189 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 30890189 30890189 G T SNP PURG ENST00000475541 human ensembl 74_37 -1 known missense c.110 p.S37Y 1.000 NULL pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 tier1 - - 41 0 0.00 31 4 11.43 PXDC1 0 genome.wustl.edu 37 6 3722977 3722977 + RNA SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 3722977 3722977 G A SNP PXDC1 ENST00000477592 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PXDC1 HGNC ENSG00000168994 tier1 - - 119 0 0.00 109 17 13.49 PYGB 0 genome.wustl.edu 37 20 25239910 25239910 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 25239910 25239910 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.281 p.R94H 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 22 0 0.00 48 4 7.69 RABEPK 0 genome.wustl.edu 37 9 127994943 127994943 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 127994943 127994943 G T SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.745 p.V249L 0.999 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 67 0 0.00 56 4 6.67 RARG 0 genome.wustl.edu 37 12 53613943 53613943 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 53613943 53613943 C T SNP RARG ENST00000543726 human ensembl 74_37 -1 known missense c.58 p.E20K 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 tier1 - - 150 0 0.00 93 10 9.71 RBM20 0 genome.wustl.edu 37 10 112541325 112541325 + Nonsense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 112541325 112541325 G T SNP RBM20 ENST00000369519 human ensembl 74_37 +1 known nonsense c.958 p.E320* 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 88 0 0.00 51 4 7.27 RBP4 0 genome.wustl.edu 37 10 95353631 95353631 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 95353631 95353631 G A SNP RBP4 ENST00000371464 human ensembl 74_37 -1 known missense c.517 p.R173W 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd/Purpurin,prints_Lipocalin - no_errors RBP4 HGNC ENSG00000138207 tier1 rs139534453 - 65 0 0.00 38 11 22.45 REM2 0 genome.wustl.edu 37 14 23354124 23354124 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 23354124 23354124 C G SNP REM2 ENST00000267396 human ensembl 74_37 +1 known missense c.345 p.F115L 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase - no_errors REM2 HGNC ENSG00000139890 tier1 - - 62 0 0.00 41 4 8.89 REV3L 0 genome.wustl.edu 37 6 111695431 111695431 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 111695431 111695431 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4127 p.S1376F 0.205 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 42 0 0.00 38 4 9.52 REV3L 0 genome.wustl.edu 37 6 111696179 111696179 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 111696179 111696179 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3379 p.R1127C 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 65 0 0.00 57 6 9.52 RFX6 0 genome.wustl.edu 37 6 117249991 117249991 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 117249991 117249991 C T SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.2468 p.S823F 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 121 0 0.00 75 9 10.71 RGL2 0 genome.wustl.edu 37 6 33263890 33263890 + Missense_Mutation SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 33263890 33263890 A G SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.683 p.L228P 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 71 0 0.00 72 5 6.49 RGS6 0 genome.wustl.edu 37 14 72985113 72985113 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 72985113 72985113 G T SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1146 p.K382N 0.964 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 50 0 0.00 57 4 6.56 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 104898096 104898096 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 32 0 0.00 17 9 34.62 RIN2 0 genome.wustl.edu 37 20 19981579 19981579 + Nonstop_Mutation SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 19981579 19981579 A G SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known nonstop c.2834 p.*945W 0.796 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 53 0 0.00 35 2 5.41 RNF145 0 genome.wustl.edu 37 5 158603819 158603819 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 158603819 158603819 G T SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.532 p.L178M 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 tier1 - - 157 0 0.00 64 15 18.75 RNF148 0 genome.wustl.edu 37 7 122342265 122342265 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 122342265 122342265 C G SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known silent c.540 p.G180 0.853 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 tier1 - - 56 0 0.00 44 5 10.00 RNF213 0 genome.wustl.edu 37 17 78306030 78306030 + Frame_Shift_Del DEL A A - TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 78306030 78306030 A - DEL RNF213 ENST00000582970 human ensembl 74_37 +1 known frame_shift_del c.3742 p.K1248fs 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 78 0 0.00 36 2 5.26 RNF213 0 genome.wustl.edu 37 17 78311486 78311486 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 78311486 78311486 G C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.4628 p.R1543T 0.201 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 57 0 0.00 50 4 7.41 RNF214 0 genome.wustl.edu 37 11 117117537 117117537 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 117117537 117117537 G T SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known missense c.832 p.A278S 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 tier1 - - 59 0 0.00 62 4 6.06 RNF220 0 genome.wustl.edu 37 1 45110739 45110739 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 45110739 45110739 G A SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known silent c.1296 p.R432 1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 tier1 - - 52 0 0.00 68 5 6.85 RPA4 0 genome.wustl.edu 37 X 96139347 96139347 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 96139347 96139347 C G SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.38 p.S13C 0.014 pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 41 0 0.00 17 3 15.00 RPL36 0 genome.wustl.edu 37 19 5691620 5691620 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 5691620 5691620 C G SNP RPL36 ENST00000347512 human ensembl 74_37 +1 known silent c.306 p.A102 1.000 NULL pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 tier1 - - 91 0 0.00 66 4 5.63 RPS6KL1 0 genome.wustl.edu 37 14 75388118 75388118 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 75388118 75388118 C T SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.127 p.D43N 0.063 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 tier1 - - 26 0 0.00 43 15 25.86 RRN3 0 genome.wustl.edu 37 16 15165077 15165077 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 15165077 15165077 C A SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known missense c.1160 p.W387L 1.000 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 tier1 - - 139 0 0.00 76 4 5.00 RUNX2 0 genome.wustl.edu 37 6 45514825 45514825 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 45514825 45514825 C T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.1553 p.S518L 1.000 pfam_RunxI_C_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 39 0 0.00 27 3 9.68 RUVBL2 0 genome.wustl.edu 37 19 49513245 49513245 + Nonsense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 49513245 49513245 C T SNP RUVBL2 ENST00000221413 human ensembl 74_37 +1 known nonsense c.574 p.R192* 0.989 superfamily_NA-bd_OB-fold pfam_TIP49_C,pfam_DNA_helicase_DnaB-like_C,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase - no_errors RUVBL2 HGNC ENSG00000183207 tier1 rs200114612 - 73 0 0.00 43 4 8.51 RUVBL2 0 genome.wustl.edu 37 19 49513866 49513866 + Nonsense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 49513866 49513866 C G SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known nonsense c.785 p.S262* 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 tier1 - - 40 0 0.00 14 4 21.05 RYR2 0 genome.wustl.edu 37 1 237893570 237893570 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 237893570 237893570 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.10843 p.V3615F 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 91 0 0.00 64 4 5.88 SAP130 0 genome.wustl.edu 37 2 128757988 128757988 + Missense_Mutation SNP T T A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 128757988 128757988 T A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.988 p.I330F 0.992 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 80 0 0.00 86 10 10.42 SEC23A 0 genome.wustl.edu 37 14 39502532 39502532 + Nonsense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 14 39502532 39502532 C A SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known nonsense c.2209 p.E737* 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 tier1 - - 171 0 0.00 149 17 10.24 SENP1 0 genome.wustl.edu 37 12 48491881 48491881 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 48491881 48491881 C G SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.31 p.D11H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 tier1 - - 130 0 0.00 150 18 10.71 SENP8 0 genome.wustl.edu 37 15 72432295 72432295 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 15 72432295 72432295 G C SNP SENP8 ENST00000340912 human ensembl 74_37 +1 known missense c.331 p.D111H 0.996 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP8 HGNC ENSG00000166192 tier1 - - 67 0 0.00 31 4 11.43 SEPHS1 0 genome.wustl.edu 37 10 13380806 13380806 + Missense_Mutation SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 13380806 13380806 T C SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.196 p.I66V 1.000 superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 tier1 - - 83 0 0.00 42 6 12.50 SERGEF 0 genome.wustl.edu 37 11 18014501 18014501 + Nonsense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 18014501 18014501 G C SNP SERGEF ENST00000265965 human ensembl 74_37 -1 known nonsense c.662 p.S221* 0.791 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors SERGEF HGNC ENSG00000129158 tier1 - - 100 0 0.00 74 5 6.33 SETBP1 0 genome.wustl.edu 37 18 42529939 42529940 + Frame_Shift_Ins INS - - A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 42529939 42529940 - A INS SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_ins c.634_635 p.S214fs 1.000:1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 58 0 0.00 36 2 5.26 SGK223 0 genome.wustl.edu 37 8 8239172 8239172 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 8239172 8239172 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.86 p.S29F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 82 0 0.00 91 45 33.09 SIM1 0 genome.wustl.edu 37 6 100841766 100841766 + Splice_Site SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 100841766 100841766 C G SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known splice_site c.1168-1 e10-1 1.000 - - - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 29 0 0.00 13 11 44.00 SLC17A2 0 genome.wustl.edu 37 6 25916027 25916027 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 25916027 25916027 C T SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.1000 p.D334N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 tier1 - - 87 0 0.00 46 7 13.21 SLC38A1 0 genome.wustl.edu 37 12 46594904 46594904 + Missense_Mutation SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 46594904 46594904 A G SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known missense c.980 p.I327T 0.996 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 tier1 - - 257 0 0.00 183 16 8.04 SLC3A1 0 genome.wustl.edu 37 2 44547672 44547672 + Missense_Mutation SNP A A T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 44547672 44547672 A T SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1952 p.N651I 0.012 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 tier1 - - 63 0 0.00 43 7 14.00 SLC41A3 0 genome.wustl.edu 37 3 125745256 125745256 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 125745256 125745256 C G SNP SLC41A3 ENST00000315891 human ensembl 74_37 -1 known missense c.520 p.E174Q 0.008 pfam_SLC41_membr_dom pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 tier1 - - 82 0 0.00 78 6 7.14 SLC9C1 0 genome.wustl.edu 37 3 111999598 111999598 + Missense_Mutation SNP T T A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 3 111999598 111999598 T A SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.121 p.I41F 0.924 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 66 0 0.00 28 2 6.67 SMCO2 0 genome.wustl.edu 37 12 27628521 27628521 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 27628521 27628521 G A SNP SMCO2 ENST00000416383 human ensembl 74_37 +1 known silent c.369 p.L123 0.000 NULL NULL - no_errors SMCO2 HGNC ENSG00000165935 tier1 - - 149 0 0.00 85 11 11.46 SMG7 0 genome.wustl.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 183515266 183515267 - A INS SMG7 ENST00000507469 human ensembl 74_37 +1 known frame_shift_ins c.2398_2399 p.M803fs 1.000:1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 67 0 0.00 42 5 10.64 SMIM9 0 genome.wustl.edu 37 X 154059006 154059006 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 154059006 154059006 C T SNP SMIM9 ENST00000369529 human ensembl 74_37 -1 known silent c.126 p.S42 0.000 NULL NULL - no_errors SMIM9 HGNC ENSG00000203870 tier1 - - 47 0 0.00 42 8 16.00 SMR3A 0 genome.wustl.edu 37 4 71227835 71227835 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 71227835 71227835 G T SNP SMR3A ENST00000226460 human ensembl 74_37 +1 known missense c.3 p.M1I 0.990 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 tier1 - - 104 0 0.00 90 7 7.22 SMTN 0 genome.wustl.edu 37 22 31494798 31494798 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 22 31494798 31494798 G A SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.2305 p.E769K 1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 99 0 0.00 41 19 31.67 SNRNP40 0 genome.wustl.edu 37 1 31754335 31754335 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 31754335 31754335 G T SNP SNRNP40 ENST00000446633 human ensembl 74_37 -1 known missense c.540 p.D180E 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SNRNP40 HGNC ENSG00000060688 tier1 - - 68 0 0.00 71 4 5.33 SORCS1 0 genome.wustl.edu 37 10 108439438 108439438 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 108439438 108439438 C G SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1615 p.G539R 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 51 0 0.00 65 6 8.45 SPATA31D1 0 genome.wustl.edu 37 9 84605340 84605340 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 84605340 84605340 G A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.241 p.D81N 0.018 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 57 0 0.00 68 6 8.11 SPATA32 0 genome.wustl.edu 37 17 43333340 43333340 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 43333340 43333340 G A SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.209 p.P70L 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 25 0 0.00 24 2 7.69 SPATA9 0 genome.wustl.edu 37 5 95018270 95018270 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 95018270 95018270 C G SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.112 p.E38Q 0.994 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 tier1 - - 90 0 0.00 77 7 8.33 SPDYC 0 genome.wustl.edu 37 11 64940167 64940167 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 64940167 64940167 G C SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known missense c.529 p.E177Q 0.046 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 tier1 - - 128 0 0.00 74 12 13.95 SPHKAP 0 genome.wustl.edu 37 2 228883348 228883348 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 228883348 228883348 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2222 p.T741I 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 38 0 0.00 24 4 14.29 SPTAN1 0 genome.wustl.edu 37 9 131345085 131345085 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 131345085 131345085 G T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.1763 p.W588L 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 - - 51 0 0.00 45 4 8.16 SRPX 0 genome.wustl.edu 37 X 38079995 38079995 + Silent SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 38079995 38079995 C A SNP SRPX ENST00000378533 human ensembl 74_37 -1 known silent c.51 p.L17 0.004 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 25 0 0.00 40 4 9.09 SSPO 0 genome.wustl.edu 37 7 149522965 149522965 + RNA SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 149522965 149522965 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 35 0 0.00 25 6 19.35 ST8SIA3 0 genome.wustl.edu 37 18 55020185 55020185 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 55020185 55020185 G A SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known silent c.108 p.E36 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 tier1 - - 78 0 0.00 41 4 8.89 STAG3 0 genome.wustl.edu 37 7 99799644 99799644 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 99799644 99799644 G C SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known missense c.2374 p.D792H 0.980 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 61 0 0.00 38 3 7.32 STAT4 0 genome.wustl.edu 37 2 191896228 191896228 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 191896228 191896228 C G SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.2059 p.E687Q 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 150 0 0.00 97 15 13.39 SUMF2 0 genome.wustl.edu 37 7 56140697 56140697 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 56140697 56140697 G T SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known missense c.289 p.V97F 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 tier1 - - 79 0 0.00 56 4 6.67 SYCE1 0 genome.wustl.edu 37 10 135371408 135371408 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 135371408 135371408 G C SNP SYCE1 ENST00000343131 human ensembl 74_37 -1 known missense c.334 p.L112V 0.791 NULL NULL - no_errors SYCE1 HGNC ENSG00000171772 tier1 - - 55 0 0.00 62 6 8.82 SYCP2L 0 genome.wustl.edu 37 6 10924739 10924739 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 10924739 10924739 G T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.1083 p.K361N 0.000 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 tier1 - - 48 0 0.00 58 4 6.45 SYNE1 0 genome.wustl.edu 37 6 152831447 152831447 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 152831447 152831447 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.462 p.S154 0.007 superfamily_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 58 0 0.00 60 16 21.05 SYNE1 0 genome.wustl.edu 37 6 152784608 152784608 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 152784608 152784608 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.1977 p.A659 0.970 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 90 0 0.00 74 4 5.13 T 0 genome.wustl.edu 37 6 166578287 166578287 + Splice_Site SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 166578287 166578287 C T SNP T ENST00000296946 human ensembl 74_37 -1 known splice_site c.668+1 e4+1 1.000 - - - no_errors T HGNC ENSG00000164458 tier1 - - 82 0 0.00 96 7 6.80 TANK 0 genome.wustl.edu 37 2 162061209 162061209 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 162061209 162061209 C T SNP TANK ENST00000259075 human ensembl 74_37 +1 known silent c.232 p.L78 0.131 NULL NULL - no_errors TANK HGNC ENSG00000136560 tier1 - - 73 0 0.00 66 4 5.71 TCN2 0 genome.wustl.edu 37 22 31010381 31010381 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 22 31010381 31010381 G T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.473 p.G158V 0.996 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 131 0 0.00 86 5 5.49 TDRD15 0 genome.wustl.edu 37 2 21360421 21360421 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 21360421 21360421 C G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.82 p.L28V 0.034 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 90 0 0.00 64 5 7.25 TDRD6 0 genome.wustl.edu 37 6 46656919 46656919 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 46656919 46656919 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1054 p.E352K 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 70 0 0.00 37 5 11.90 THAP6 0 genome.wustl.edu 37 4 76465090 76465090 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 76465090 76465090 G C SNP THAP6 ENST00000507556 human ensembl 74_37 +1 putative missense c.436 p.E146Q 0.003 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP6 HGNC ENSG00000174796 tier1 - - 78 0 0.00 60 8 11.76 THOC2 0 genome.wustl.edu 37 X 122799634 122799634 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 122799634 122799634 C G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.1245 p.K415N 0.988 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 tier1 - - 33 0 0.00 36 13 26.53 TIE1 0 genome.wustl.edu 37 1 43783580 43783580 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 43783580 43783580 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2759 p.A920V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 68 0 0.00 71 4 5.33 TIMM50 0 genome.wustl.edu 37 19 39979191 39979191 + Missense_Mutation SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 39979191 39979191 A G SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.1175 p.N392S 0.983 pfam_NIF,superfamily_HAD-like_dom pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 tier1 - - 57 0 0.00 29 4 12.12 TMEM128 0 genome.wustl.edu 37 4 4248035 4248035 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 4 4248035 4248035 G C SNP TMEM128 ENST00000382753 human ensembl 74_37 -1 known missense c.133 p.L45V 1.000 NULL NULL - no_errors TMEM128 HGNC ENSG00000132406 61 0 0.00 47 5 9.26 TMEM86A 0 genome.wustl.edu 37 11 18723435 18723435 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 11 18723435 18723435 C T SNP TMEM86A ENST00000280734 human ensembl 74_37 +1 known missense c.602 p.P201L 0.996 pfam_YhhN pfam_YhhN - no_errors TMEM86A HGNC ENSG00000151117 33 0 0.00 36 2 5.26 TNRC6C 0 genome.wustl.edu 37 17 76046827 76046827 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 76046827 76046827 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.1684 p.A562S 0.723 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 - - 58 0 0.00 47 4 7.84 TNS3 0 genome.wustl.edu 37 7 47408374 47408374 + Silent SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 47408374 47408374 G C SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.1869 p.V623 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 44 0 0.00 55 4 6.78 TOX3 0 genome.wustl.edu 37 16 52480132 52480132 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 52480132 52480132 G T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.680 p.A227D 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 67 0 0.00 70 4 5.33 TOX3 0 genome.wustl.edu 37 16 52553367 52553367 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 52553367 52553367 G T SNP TOX3 ENST00000407228 human ensembl 74_37 -1 known missense c.26 p.A9D 0.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 98 0 0.00 66 4 5.71 TP53 0 genome.wustl.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 7578235 7578235 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.614 p.Y205C 0.989 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 127 0 0.00 60 15 20.00 TPO 0 genome.wustl.edu 37 2 1480921 1480921 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 1480921 1480921 G T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.883 p.A295S 0.969 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 85 0 0.00 52 3 5.45 TRAF5 0 genome.wustl.edu 37 1 211533401 211533401 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 211533401 211533401 G T SNP TRAF5 ENST00000261464 human ensembl 74_37 +1 known missense c.526 p.V176L 0.222 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 tier1 - - 56 0 0.00 48 4 7.69 TRERF1 0 genome.wustl.edu 37 6 42224820 42224820 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 42224820 42224820 C G SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2417 p.R806T 1.000 pfam_ELM2_dom,pfscan_ELM2_dom 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 - - 56 0 0.00 46 8 14.81 TRIO 0 genome.wustl.edu 37 5 14391097 14391097 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 5 14391097 14391097 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.4216 p.D1406N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 - - 62 0 0.00 62 7 10.14 TRPC4 0 genome.wustl.edu 37 13 38211354 38211354 + Nonsense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 38211354 38211354 G A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known nonsense c.2635 p.Q879* 0.999 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 72 0 0.00 57 26 31.33 TRRAP 0 genome.wustl.edu 37 7 98529082 98529082 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 98529082 98529082 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.3646 p.R1216W 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 40 0 0.00 28 4 12.50 TSKS 0 genome.wustl.edu 37 19 50251727 50251727 + Splice_Site SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 50251727 50251727 C G SNP TSKS ENST00000246801 human ensembl 74_37 -1 known splice_site c.400-1 e3-1 1.000 - - - no_errors TSKS HGNC ENSG00000126467 tier1 - - 73 0 0.00 66 15 18.52 TTLL6 0 genome.wustl.edu 37 17 46882291 46882291 + Nonsense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 17 46882291 46882291 C A SNP TTLL6 ENST00000393382 human ensembl 74_37 -1 known nonsense c.166 p.E56* 0.066 NULL pfam_TTL/TTLL_fam - no_errors TTLL6 HGNC ENSG00000170703 tier1 - - 80 0 0.00 65 4 5.80 TTN 0 genome.wustl.edu 37 2 179415774 179415774 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 179415774 179415774 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83780 p.R27927T 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 72 0 0.00 58 7 10.77 TTN 0 genome.wustl.edu 37 2 179547519 179547519 + Missense_Mutation SNP A A T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 179547519 179547519 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29267 p.F9756Y 0.293 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 64 0 0.00 78 16 17.02 TTPA 0 genome.wustl.edu 37 8 63985593 63985593 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 63985593 63985593 G T SNP TTPA ENST00000260116 human ensembl 74_37 -1 known missense c.259 p.L87I 1.000 superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 tier1 - - 38 0 0.00 27 11 28.95 TUBGCP3 0 genome.wustl.edu 37 13 113212681 113212681 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 13 113212681 113212681 G T SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.377 p.A126D 0.999 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 tier1 - - 115 0 0.00 57 4 6.56 TULP2 0 genome.wustl.edu 37 19 49385305 49385305 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 49385305 49385305 G T SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.1431 p.I477 0.064 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 tier1 - - 158 0 0.00 72 20 21.74 UNC50 0 genome.wustl.edu 37 2 99226460 99226460 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 99226460 99226460 G T SNP UNC50 ENST00000409347 human ensembl 74_37 +1 known missense c.289 p.D97Y 1.000 pfam_UNC-50 pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 tier1 - - 47 0 0.00 76 4 5.00 UPF2 0 genome.wustl.edu 37 10 12071195 12071195 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 12071195 12071195 G A SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.694 p.R232C 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 54 0 0.00 32 2 5.71 USP11 0 genome.wustl.edu 37 X 47101642 47101642 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 X 47101642 47101642 C G SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.1470 p.I490M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 tier1 - - 49 0 0.00 33 4 10.81 USP31 0 genome.wustl.edu 37 16 23080832 23080832 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 16 23080832 23080832 G T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.2594 p.P865H 0.999 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 74 0 0.00 45 4 8.16 USP39 0 genome.wustl.edu 37 2 85843346 85843346 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 85843346 85843346 C G SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.28 p.R10G 0.999 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 tier1 - - 34 0 0.00 49 6 10.91 VAPA 0 genome.wustl.edu 37 18 9945046 9945046 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 18 9945046 9945046 G A SNP VAPA ENST00000340541 human ensembl 74_37 +1 known silent c.543 p.E181 1.000 pirsf_Vesicle-associated_membrane pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPA HGNC ENSG00000101558 tier1 - - 90 0 0.00 80 9 10.11 VPS54 0 genome.wustl.edu 37 2 64211108 64211108 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 64211108 64211108 G A SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.26 p.P9L 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 tier1 - - 35 0 0.00 30 8 21.05 WBSCR28 0 genome.wustl.edu 37 7 73279612 73279612 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 73279612 73279612 G T SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known missense c.362 p.G121V 0.052 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 tier1 - - 51 0 0.00 60 4 6.25 WDR31 0 genome.wustl.edu 37 9 116085328 116085328 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 116085328 116085328 G A SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known silent c.432 p.G144 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR31 HGNC ENSG00000148225 tier1 - - 84 0 0.00 41 11 21.15 XPO5 0 genome.wustl.edu 37 6 43528002 43528002 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 43528002 43528002 G A SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known silent c.1134 p.L378 0.863 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 tier1 - - 108 0 0.00 60 17 22.08 YTHDF1 0 genome.wustl.edu 37 20 61834342 61834342 + Missense_Mutation SNP T T A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 20 61834342 61834342 T A SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.950 p.Y317F 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 tier1 - - 44 0 0.00 57 12 17.39 YTHDF3 0 genome.wustl.edu 37 8 64124829 64124829 + RNA SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 64124829 64124829 C G SNP YTHDF3 ENST00000521674 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 tier1 - - 83 0 0.00 64 22 25.29 YWHAQ 0 genome.wustl.edu 37 2 9770479 9770479 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 2 9770479 9770479 C T SNP YWHAQ ENST00000238081 human ensembl 74_37 -1 known missense c.103 p.E35K 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ENSG00000134308 tier1 - - 40 0 0.00 31 10 24.39 ZEB1 0 genome.wustl.edu 37 10 31791292 31791292 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 10 31791292 31791292 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.339 p.C113 0.990 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 75 0 0.00 43 3 6.52 ZFP37 0 genome.wustl.edu 37 9 115812134 115812134 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 115812134 115812134 G T SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.196 p.P66T 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 tier1 - - 88 0 0.00 69 4 5.48 ZFP37 0 genome.wustl.edu 37 9 115812183 115812183 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 9 115812183 115812183 G C SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.147 p.F49L 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 tier1 - - 58 0 0.00 47 11 18.97 ZIM3 0 genome.wustl.edu 37 19 57647388 57647388 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 57647388 57647388 G A SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known missense c.317 p.S106L 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM3 HGNC ENSG00000141946 tier1 - - 90 0 0.00 127 14 9.86 ZMYM6 0 genome.wustl.edu 37 1 35480750 35480750 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 35480750 35480750 G C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.442 p.P148A 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 48 0 0.00 40 4 9.09 ZMYM6 0 genome.wustl.edu 37 1 35480759 35480759 + Missense_Mutation SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 35480759 35480759 T C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.433 p.I145V 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 46 0 0.00 34 4 10.53 ZMYND12 0 genome.wustl.edu 37 1 42902173 42902173 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 42902173 42902173 C G SNP ZMYND12 ENST00000372565 human ensembl 74_37 -1 known missense c.636 p.R212S 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 tier1 - - 93 0 0.00 90 7 7.22 ZNF117 0 genome.wustl.edu 37 7 64438943 64438943 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 64438943 64438943 C G SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.1006 p.E336Q 0.133 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 96 0 0.00 50 3 5.66 ZNF184 0 genome.wustl.edu 37 6 27420279 27420279 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 27420279 27420279 C G SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.1059 p.Q353H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 tier1 - - 87 0 0.00 102 17 14.29 ZNF283 0 genome.wustl.edu 37 19 44351849 44351849 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 44351849 44351849 C A SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known missense c.1096 p.Q366K 0.715 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 ZNF283 HGNC ENSG00000167637 113 0 0.00 70 4 5.41 ZNF292 0 genome.wustl.edu 37 6 87969973 87969973 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 6 87969973 87969973 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.6626 p.A2209V 0.808 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 59 0 0.00 26 10 27.78 ZNF384 0 genome.wustl.edu 37 12 6787385 6787385 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 6787385 6787385 C G SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known silent c.594 p.R198 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 49 0 0.00 28 3 9.68 ZNF395 0 genome.wustl.edu 37 8 28210186 28210186 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 8 28210186 28210186 G T SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.824 p.S275Y 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 79 0 0.00 75 4 5.06 ZNF436 0 genome.wustl.edu 37 1 23688650 23688650 + Nonsense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 1 23688650 23688650 G A SNP ZNF436 ENST00000314011 human ensembl 74_37 -1 known nonsense c.1225 p.Q409* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF436 HGNC ENSG00000125945 tier1 - - 70 0 0.00 76 9 10.59 ZNF44 0 genome.wustl.edu 37 19 12383473 12383473 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 12383473 12383473 C T SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.1741 p.E581K 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 tier1 - - 69 0 0.00 52 4 7.14 ZNF559 0 genome.wustl.edu 37 19 9449954 9449954 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 9449954 9449954 G C SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.119 p.R40T 0.998 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF559 HGNC ENSG00000188321 tier1 - - 139 0 0.00 129 16 11.03 ZNF626 0 genome.wustl.edu 37 19 20807474 20807474 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 20807474 20807474 G T SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known silent c.1209 p.G403 0.970 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 ZNF626 HGNC ENSG00000188171 87 0 0.00 73 4 5.19 ZNF655 0 genome.wustl.edu 37 7 99171528 99171528 + RNA SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 7 99171528 99171528 A G SNP ZNF655 ENST00000419215 human ensembl 74_37 +1 known rna NULL NULL 0.078 - - - no_errors ZNF655 HGNC ENSG00000197343 tier1 - - 60 0 0.00 46 4 8.00 ZNF676 0 genome.wustl.edu 37 19 22363273 22363273 + Missense_Mutation SNP T T C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 22363273 22363273 T C SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1246 p.T416A 1.000 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 rs77927748 - 69 0 0.00 75 9 10.71 ZNF676 0 genome.wustl.edu 37 19 22363286 22363286 + Silent SNP A A G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 22363286 22363286 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.1233 p.H411 0.208 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 rs78144725 - 76 0 0.00 79 10 11.24 ZNF705A 0 genome.wustl.edu 37 12 8329832 8329832 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 12 8329832 8329832 C T SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.556 p.R186C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705A HGNC ENSG00000196946 271 0 0.00 220 13 5.58 ZNF792 0 genome.wustl.edu 37 19 35451802 35451802 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 35451802 35451802 G A SNP ZNF792 ENST00000404801 human ensembl 74_37 -1 known silent c.130 p.L44 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF792 HGNC ENSG00000180884 tier1 - - 151 0 0.00 96 12 11.11 ZNF850 0 genome.wustl.edu 37 19 37238823 37238823 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bedbcf17-d6e0-440f-9220-39b66b81492a 3e5cde29-49bf-4b79-89c3-ebe736c6c733 19 37238823 37238823 G A SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.3119 p.P1040L 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 tier1 - - 94 0 0.00 66 11 14.29