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 AGL 0 genome.wustl.edu 37 1 100350169 100350169 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 100350169 100350169 G A SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.2591 p.R864Q 1.000 tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 141 0 0 144 16 10 SLC25A24 0 genome.wustl.edu 37 1 108697684 108697684 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 108697684 108697684 C T SNP SLC25A24 ENST00000565488 human ensembl 74_37 -1 known missense c.743 p.R248H 0.969 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 153 0 0 137 21 13.2911 KIAA1324 0 genome.wustl.edu 37 1 109740119 109740119 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 109740119 109740119 C T SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known silent c.2145 p.T715 0.003 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 181 0 0 180 13 6.73575 EPS8L3 0 genome.wustl.edu 37 1 110302515 110302515 + RNA SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 110302515 110302515 G T SNP EPS8L3 ENST00000472325 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors EPS8L3 HGNC ENSG00000198758 66 0 0 32 8 20 AHCYL1 0 genome.wustl.edu 37 1 110561069 110561069 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 110561069 110561069 T C SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.1198 p.S400P 1.000 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 107 0 0 94 9 8.73786 SLC16A4 0 genome.wustl.edu 37 1 110924274 110924274 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 110924274 110924274 C T SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known missense c.364 p.G122S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 69 0 0 50 4 7.40741 KCNA3 0 genome.wustl.edu 37 1 111216142 111216142 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 111216142 111216142 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1290 p.S430 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 82 0 0 63 8 11.2676 LRIF1 0 genome.wustl.edu 37 1 111495091 111495091 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 111495091 111495091 C A SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.415 p.G139C 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 169 0 0 166 16 8.79121 ADORA3 0 genome.wustl.edu 37 1 112042838 112042838 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 112042838 112042838 A C SNP ADORA3 ENST00000241356 human ensembl 74_37 -1 known missense c.691 p.S231A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA3 HGNC ENSG00000121933 114 0 0 112 8 6.66667 UBIAD1 0 genome.wustl.edu 37 1 11345830 11345830 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 11345830 11345830 C A SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known missense c.659 p.P220H 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 152 0 0 148 20 11.9048 RSBN1 0 genome.wustl.edu 37 1 114320337 114320337 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 114320337 114320337 A G SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.1471 p.F491L 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 96 0 0 71 10 12.3457 IGSF3 0 genome.wustl.edu 37 1 117142762 117142762 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 117142762 117142762 G T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.1890 p.S630 0.997 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 38 0 0 34 3 8.10811 PTGFRN 0 genome.wustl.edu 37 1 117492122 117492122 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 117492122 117492122 G A SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known missense c.1141 p.G381R 0.845 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 145 0 0 127 17 11.8056 TTF2 0 genome.wustl.edu 37 1 117626723 117626723 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 117626723 117626723 C T SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1987 p.R663W 0.998 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 177 0 0 169 13 7.14286 MTHFR 0 genome.wustl.edu 37 1 11850909 11850909 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 11850909 11850909 T G SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.1922 p.E641A 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 129 0 0 106 13 10.9244 UBE2J2 0 genome.wustl.edu 37 1 1192407 1192407 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 1192407 1192407 G T SNP UBE2J2 ENST00000400930 human ensembl 74_37 -1 known missense c.427 p.P143T 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 142 0 0 105 23 17.9688 VPS13D 0 genome.wustl.edu 37 1 12337952 12337952 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 12337952 12337952 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.4307 p.C1436Y 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 229 0 0 169 14 7.65027 TAS1R3 0 genome.wustl.edu 37 1 1266841 1266841 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 1266841 1266841 G A SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.116 p.G39E 1.000 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 22 0 0 16 5 23.8095 ATAD3C 0 genome.wustl.edu 37 1 1403815 1403815 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 1403815 1403815 G A SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known missense c.1141 p.A381T 1.000 superfamily_P-loop_NTPase pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 28 0 0 32 5 13.5135 ANKRD35 0 genome.wustl.edu 37 1 145558843 145558843 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 145558843 145558843 T C SNP ANKRD35 ENST00000544626 human ensembl 74_37 +1 known missense c.404 p.V135A 0.239 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD35 HGNC ENSG00000198483 193 1 0.515464 141 17 10.7595 CHD1L 0 genome.wustl.edu 37 1 146747814 146747814 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 146747814 146747814 A T SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.1432 p.I478L 0.996 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 161 0 0 146 24 14.1176 SF3B4 0 genome.wustl.edu 37 1 149899128 149899128 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 149899128 149899128 T A SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.93 p.E31D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 144 0 0 115 12 9.44882 ADAMTSL4 0 genome.wustl.edu 37 1 150530959 150530959 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 150530959 150530959 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.2462 p.R821Q 0.080 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 49 0 0 41 7 14.5833 ADAMTSL4 0 genome.wustl.edu 37 1 150530983 150530983 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 150530983 150530983 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.2486 p.R829Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 53 0 0 45 11 19.6429 ADAMTSL4 0 genome.wustl.edu 37 1 150532582 150532582 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 150532582 150532582 G T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.3204 p.Q1068H 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 193 0 0 146 23 13.6095 KPRP 0 genome.wustl.edu 37 1 152733224 152733224 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 152733224 152733224 G A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1160 p.R387H 0.001 NULL NULL - no_errors KPRP HGNC ENSG00000203786 70 0 0 67 26 27.957 INTS3 0 genome.wustl.edu 37 1 153745538 153745538 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 153745538 153745538 C T SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.3032 p.S1011L 0.961 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 166 0 0 132 12 8.33333 ADAR 0 genome.wustl.edu 37 1 154569663 154569663 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 154569663 154569663 G A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.2144 p.A715V 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 134 0 0 107 7 6.14035 ZBTB7B 0 genome.wustl.edu 37 1 154987740 154987740 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 154987740 154987740 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.706 p.R236C 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 75 0 0 52 4 7.14286 DCST1 0 genome.wustl.edu 37 1 155015940 155015940 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155015940 155015940 T C SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.1127 p.L376P 0.997 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 85 0 0 80 8 9.09091 HCN3 0 genome.wustl.edu 37 1 155253807 155253807 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155253807 155253807 A G SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.751 p.I251V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 192 0 0 156 21 11.8644 PKLR 0 genome.wustl.edu 37 1 155263029 155263029 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155263029 155263029 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.1375 p.A459T 0.986 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 121 0 0 93 9 8.82353 RUSC1 0 genome.wustl.edu 37 1 155300198 155300198 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155300198 155300198 G A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.2545 p.V849M 0.995 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 53 0 0 56 7 11.1111 GON4L 0 genome.wustl.edu 37 1 155823178 155823178 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155823178 155823178 T C SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.394 p.K132E 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 314 1 0.31746 181 62 25.5144 ARHGEF2 0 genome.wustl.edu 37 1 155931509 155931509 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155931509 155931509 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.1414 p.R472C 0.992 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 89 0 0 79 25 24.0385 IQGAP3 0 genome.wustl.edu 37 1 156507037 156507037 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 156507037 156507037 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.3358 p.R1120C 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 94 0 0 70 8 10.2564 IQGAP3 0 genome.wustl.edu 37 1 156521764 156521764 + Splice_Site SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 156521764 156521764 A G SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known splice_site c.1570+2 e14+2 1.000 - - - no_errors IQGAP3 HGNC ENSG00000183856 152 0 0 110 21 16.0305 LRRC71 0 genome.wustl.edu 37 1 156902403 156902403 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 156902403 156902403 C T SNP LRRC71 ENST00000490146 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC71 HGNC ENSG00000160838 198 0 0 147 17 10.3659 FCRL3 0 genome.wustl.edu 37 1 157665902 157665902 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 157665902 157665902 C A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1060 p.G354W 0.207 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 125 0 0 118 14 10.6061 OR10J1 0 genome.wustl.edu 37 1 159410002 159410002 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 159410002 159410002 C T SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.454 p.R152C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 302 0 0 258 41 13.7124 KCNJ10 0 genome.wustl.edu 37 1 160011355 160011355 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 160011355 160011355 T C SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.968 p.Y323C 0.996 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 68 0 0 63 12 16 ARHGAP30 0 genome.wustl.edu 37 1 161022247 161022247 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 161022247 161022247 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.923 p.R308Q 0.047 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 348 0 0 272 31 10.231 USP21 0 genome.wustl.edu 37 1 161130687 161130687 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 161130687 161130687 A G SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.257 p.H86R 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 92 0 0 60 14 18.9189 FCGR2A 0 genome.wustl.edu 37 1 161476270 161476270 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 161476270 161476270 C T SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known missense c.253 p.H85Y 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 108 0 0 68 9 11.6883 OLFML2B 0 genome.wustl.edu 37 1 161953757 161953757 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 161953757 161953757 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1961 p.A654V 0.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 96 0 0 73 12 14.1176 LMX1A 0 genome.wustl.edu 37 1 165175203 165175203 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 165175203 165175203 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known missense c.886 p.P296S 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 153 0 0 104 8 7.14286 SLC9C2 0 genome.wustl.edu 37 1 173526643 173526643 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 173526643 173526643 G T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1051 p.L351I 0.242 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 240 0 0 234 27 10.3448 RC3H1 0 genome.wustl.edu 37 1 173952672 173952672 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 173952672 173952672 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known missense c.476 p.R159Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 153 0 0 122 21 14.6853 RABGAP1L 0 genome.wustl.edu 37 1 174219653 174219653 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 174219653 174219653 G A SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.758 p.R253H 1.000 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 124 0 0 107 15 12.2951 TOR1AIP1 0 genome.wustl.edu 37 1 179886654 179886654 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 179886654 179886654 A G SNP TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known missense c.1035 p.I345M 0.000 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 336 1 0.296736 305 44 12.6074 CACNA1E 0 genome.wustl.edu 37 1 181680204 181680204 + Silent SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 181680204 181680204 A C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.1170 p.A390 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 47 0 0 43 7 14 CACNA1E 0 genome.wustl.edu 37 1 181721320 181721320 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 181721320 181721320 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3773 p.R1258Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 97 0 0 74 7 8.64198 ZNF648 0 genome.wustl.edu 37 1 182026233 182026233 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 182026233 182026233 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.913 p.R305W 0.488 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 36 0 0 20 5 20 LAMC1 0 genome.wustl.edu 37 1 183072489 183072489 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 183072489 183072489 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.445 p.R149C 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 320 0 0 331 47 12.4339 TRMT1L 0 genome.wustl.edu 37 1 185106736 185106736 + Splice_Site SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 185106736 185106736 A G SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known splice_site c.1513+2 e10+2 1.000 - - - no_errors TRMT1L HGNC ENSG00000121486 225 0 0 153 18 10.5263 UBR4 0 genome.wustl.edu 37 1 19408128 19408128 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 19408128 19408128 G T SNP UBR4 ENST00000375225 human ensembl 74_37 -1 known missense c.173 p.A58D 0.000 NULL NULL - no_errors UBR4 HGNC ENSG00000127481 77 0 0 77 8 9.41176 CFH 0 genome.wustl.edu 37 1 196709865 196709865 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 196709865 196709865 G A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.2899 p.G967R 0.685 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 214 0 0 179 23 11.3861 CFHR5 0 genome.wustl.edu 37 1 196973799 196973799 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 196973799 196973799 G T SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.1411 p.A471S 0.000 superfamily_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 CFHR5 HGNC ENSG00000134389 202 0 0 157 43 21.5 C1orf53 0 genome.wustl.edu 37 1 197874962 197874962 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 197874962 197874962 T C SNP C1orf53 ENST00000367393 human ensembl 74_37 +1 known missense c.301 p.Y101H 0.851 NULL NULL - no_errors C1orf53 HGNC ENSG00000203724 203 0 0 158 17 9.71429 ZNF281 0 genome.wustl.edu 37 1 200378080 200378080 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 200378080 200378080 C T SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.754 p.A252T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 226 0 0 206 24 10.4348 KIF14 0 genome.wustl.edu 37 1 200561223 200561223 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 200561223 200561223 A G SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.2798 p.M933T 0.008 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 250 0 0 208 27 11.4894 KIF21B 0 genome.wustl.edu 37 1 200960844 200960844 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 200960844 200960844 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known nonsense c.2395 p.R799* 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 46 0 0 45 5 10 TMEM183A 0 genome.wustl.edu 37 1 202976930 202976930 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 202976930 202976930 T C SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known silent c.138 p.D46 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 82 0 0 93 6 6.06061 TMEM183A 0 genome.wustl.edu 37 1 202984028 202984028 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 202984028 202984028 G A SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known missense c.379 p.G127R 0.857 superfamily_F-box_dom superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 93 0 0 70 6 7.89474 ADORA1 0 genome.wustl.edu 37 1 203097975 203097975 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 203097975 203097975 G A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.6 p.P2 0.992 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 144 0 0 118 11 8.52713 PM20D1 0 genome.wustl.edu 37 1 205814522 205814522 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 205814522 205814522 T C SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known silent c.420 p.P140 0.018 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 158 0 0 144 14 8.86076 DYRK3 0 genome.wustl.edu 37 1 206821237 206821237 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 206821237 206821237 C T SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known nonsense c.694 p.R232* 0.926 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 149 1 0.666667 152 8 5 CR2 0 genome.wustl.edu 37 1 207647197 207647197 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 207647197 207647197 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.2207 p.R736H 0.000 smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 196 0 0 157 30 16.0428 CR1L 0 genome.wustl.edu 37 1 207870962 207870962 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 207870962 207870962 G A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.977 p.G326E 0.005 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 CR1L HGNC ENSG00000197721 339 0 0 286 86 23.1183 PLXNA2 0 genome.wustl.edu 37 1 208390570 208390570 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 208390570 208390570 A G SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.698 p.L233P 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 414 0 0 303 26 7.90274 LAMB3 0 genome.wustl.edu 37 1 209797250 209797250 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 209797250 209797250 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.2072 p.G691D 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 220 0 0 159 18 10.1695 HHAT 0 genome.wustl.edu 37 1 210577992 210577992 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 210577992 210577992 C A SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.653 p.P218H 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 153 0 0 120 18 13.0435 KCNH1 0 genome.wustl.edu 37 1 211192300 211192300 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 211192300 211192300 A C SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.857 p.L286R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 203 0 0 161 32 16.5803 PPP2R5A 0 genome.wustl.edu 37 1 212515580 212515580 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 212515580 212515580 T C SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known silent c.531 p.P177 0.991 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 141 0 0 137 11 7.43243 PARP1 0 genome.wustl.edu 37 1 226555951 226555951 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 226555951 226555951 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known silent c.2226 p.H742 0.658 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 122 0 0 86 16 15.6863 OBSCN 0 genome.wustl.edu 37 1 228400306 228400306 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 228400306 228400306 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.822 p.D274 0.990 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 76 0 0 58 13 18.3099 TAF5L 0 genome.wustl.edu 37 1 229730525 229730525 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 229730525 229730525 T C SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.1289 p.D430G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 216 1 0.460829 192 30 13.5135 PGBD5 0 genome.wustl.edu 37 1 230492787 230492787 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 230492787 230492787 G A SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.702 p.S234 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 51 0 0 57 7 10.9375 TSNAX 0 genome.wustl.edu 37 1 231700291 231700291 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 231700291 231700291 G T SNP TSNAX ENST00000366639 human ensembl 74_37 +1 known missense c.513 p.Q171H 0.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSNAX HGNC ENSG00000116918 463 1 0.215517 347 51 12.8141 LGALS8 0 genome.wustl.edu 37 1 236703909 236703909 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 236703909 236703909 G A SNP LGALS8 ENST00000352231 human ensembl 74_37 +1 known missense c.391 p.G131S 0.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC ENSG00000116977 310 0 0 256 21 7.58123 RYR2 0 genome.wustl.edu 37 1 237870288 237870288 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 237870288 237870288 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.9614 p.N3205S 0.380 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 291 0 0 257 29 10.1399 HMGCL 0 genome.wustl.edu 37 1 24140703 24140703 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 24140703 24140703 C T SNP HMGCL ENST00000374490 human ensembl 74_37 -1 known silent c.474 p.Q158 0.005 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCL HGNC ENSG00000117305 134 0 0 124 25 16.7785 KIF26B 0 genome.wustl.edu 37 1 245809424 245809424 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 245809424 245809424 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.2100 p.M700I 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 KIF26B HGNC ENSG00000162849 65 0 0 56 5 8.19672 ZNF124 0 genome.wustl.edu 37 1 247319982 247319982 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 247319982 247319982 T C SNP ZNF124 ENST00000543802 human ensembl 74_37 -1 known silent c.942 p.G314 0.995 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 ZNF124 HGNC ENSG00000196418 186 0 0 171 23 11.8557 OR2G3 0 genome.wustl.edu 37 1 247769393 247769393 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 247769393 247769393 G A SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.506 p.C169Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 202 0 0 180 23 11.33 TRIM58 0 genome.wustl.edu 37 1 248028080 248028080 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 248028080 248028080 A G SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.590 p.E197G 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 60 0 0 53 9 14.5161 LOC100133445 0 genome.wustl.edu 37 1 2488029 2488029 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 2488029 2488029 G A SNP LOC100133445 ENST00000416860 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP3-395M20.8 Clone_based_vega_gene ENSG00000238164 15 0 0 11 2 15.3846 LDLRAP1 0 genome.wustl.edu 37 1 25893405 25893405 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 25893405 25893405 C T SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known silent c.849 p.Y283 0.302 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 28 0 0 20 6 23.0769 ARID1A 0 genome.wustl.edu 37 1 27087486 27087486 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 27087486 27087486 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.2060 p.P687H 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 147 0 0 84 7 7.69231 MAP3K6 0 genome.wustl.edu 37 1 27691347 27691347 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 27691347 27691347 G T SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.397 p.L133I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 80 0 0 59 13 18.0556 TMEM39B 0 genome.wustl.edu 37 1 32566155 32566155 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 32566155 32566155 C T SNP TMEM39B ENST00000336294 human ensembl 74_37 +1 known missense c.1228 p.R410C 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 112 0 0 81 7 7.95455 PRDM16 0 genome.wustl.edu 37 1 3322195 3322195 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 3322195 3322195 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1169 p.T390M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 87 0 0 87 6 6.45161 MEGF6 0 genome.wustl.edu 37 1 3428675 3428675 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 3428675 3428675 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.871 p.A291T 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 135 0 0 91 21 18.75 ZMYM4 0 genome.wustl.edu 37 1 35847348 35847348 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 35847348 35847348 G A SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.1558 p.A520T 0.968 pfam_Znf_MYM,smart_TRASH_dom pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 144 0 0 141 13 8.44156 AGO3 0 genome.wustl.edu 37 1 36509104 36509104 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 36509104 36509104 C T SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known silent c.2229 p.H743 0.875 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO3 HGNC ENSG00000126070 104 0 0 71 5 6.57895 SNIP1 0 genome.wustl.edu 37 1 38006062 38006062 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 38006062 38006062 G A SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known missense c.622 p.R208W 0.027 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 161 0 0 123 11 8.20896 EPHA10 0 genome.wustl.edu 37 1 38227196 38227196 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 38227196 38227196 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.731 p.S244L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 38 0 0 12 4 25 MTF1 0 genome.wustl.edu 37 1 38304332 38304332 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 38304332 38304332 C T SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known silent c.744 p.K248 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 121 0 0 107 17 13.7097 MACF1 0 genome.wustl.edu 37 1 39800302 39800302 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 39800302 39800302 T C SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.8153 p.L2718P 0.987 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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 MACF1 HGNC ENSG00000127603 84 0 0 69 14 16.8675 HIVEP3 0 genome.wustl.edu 37 1 42041284 42041284 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 42041284 42041284 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5138 p.G1713V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 211 0 0 144 21 12.7273 TMEM125 0 genome.wustl.edu 37 1 43738778 43738778 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 43738778 43738778 C A SNP TMEM125 ENST00000432792 human ensembl 74_37 +1 known missense c.385 p.L129M 0.756 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 34 0 0 18 3 14.2857 RNF220 0 genome.wustl.edu 37 1 44878229 44878229 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 44878229 44878229 C T SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.460 p.R154C 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 175 0 0 150 38 20.2128 MUTYH 0 genome.wustl.edu 37 1 45797950 45797950 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 45797950 45797950 C T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.821 p.R274Q 1.000 superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 77 0 0 64 8 11.1111 TSPAN1 0 genome.wustl.edu 37 1 46650505 46650505 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 46650505 46650505 T C SNP TSPAN1 ENST00000372003 human ensembl 74_37 +1 known missense c.388 p.Y130H 0.971 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN1 HGNC ENSG00000117472 223 0 0 174 15 7.93651 EFCAB14 0 genome.wustl.edu 37 1 47154079 47154079 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 47154079 47154079 G A SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known silent c.933 p.S311 0.041 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 297 0 0 263 33 11.1486 NRD1 0 genome.wustl.edu 37 1 52344138 52344138 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 52344138 52344138 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.150 p.M50I 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 55 0 0 50 8 13.7931 DHCR24 0 genome.wustl.edu 37 1 55319114 55319114 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 55319114 55319114 C T SNP DHCR24 ENST00000371269 human ensembl 74_37 -1 known missense c.1390 p.V464M 0.993 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 47 0 0 37 5 11.9048 USP24 0 genome.wustl.edu 37 1 55591012 55591012 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 55591012 55591012 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.3461 p.A1154V 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 164 0 0 138 14 9.21053 C8A 0 genome.wustl.edu 37 1 57340626 57340626 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 57340626 57340626 G A SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.176 p.R59Q 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 48 0 0 46 8 14.8148 GPR153 0 genome.wustl.edu 37 1 6313841 6313841 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 6313841 6313841 C T SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known silent c.723 p.Q241 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 73 0 0 52 10 16.129 NOL9 0 genome.wustl.edu 37 1 6592755 6592755 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 6592755 6592755 G A SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known missense c.1303 p.R435C 0.003 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 153 0 0 118 12 9.23077 ANKRD13C 0 genome.wustl.edu 37 1 70819761 70819761 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 70819761 70819761 G A SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known missense c.331 p.P111S 0.974 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 62 0 0 42 5 10.6383 LHX8 0 genome.wustl.edu 37 1 75622741 75622741 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 75622741 75622741 C T SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.974 p.A325V 0.998 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 125 0 0 121 12 9.02256 MSH4 0 genome.wustl.edu 37 1 76272810 76272810 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 76272810 76272810 A G SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known missense c.572 p.N191S 1.000 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 203 1 0.490196 174 15 7.93651 IFI44 0 genome.wustl.edu 37 1 79120723 79120723 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 79120723 79120723 C A SNP IFI44 ENST00000370747 human ensembl 74_37 +1 known silent c.519 p.A173 0.000 superfamily_P-loop_NTPase pfam_TLDc,superfamily_P-loop_NTPase - no_errors IFI44 HGNC ENSG00000137965 117 0 0 124 13 9.48905 ELTD1 0 genome.wustl.edu 37 1 79412005 79412005 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 79412005 79412005 G A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.279 p.S93 0.997 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_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_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 86 0 0 78 10 11.3636 RERE 0 genome.wustl.edu 37 1 8418690 8418690 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 8418690 8418690 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3905 p.R1302Q 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 56 0 0 30 8 21.0526 CLCA4 0 genome.wustl.edu 37 1 87045052 87045052 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 87045052 87045052 A G SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.2138 p.N713S 0.760 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 77 0 0 73 10 12.0482 GBP2 0 genome.wustl.edu 37 1 89579814 89579814 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 89579814 89579814 G A SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known missense c.1034 p.T345M 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP2 HGNC ENSG00000162645 180 0 0 189 26 12.093 LRRC8B 0 genome.wustl.edu 37 1 90048552 90048552 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 90048552 90048552 C A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.343 p.H115N 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 288 0 0 299 28 8.56269 KLHL17 0 genome.wustl.edu 37 1 900527 900527 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 900527 900527 C T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.1885 p.P629S 0.999 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 42 0 0 26 4 13.3333 GPR157 0 genome.wustl.edu 37 1 9164620 9164620 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 9164620 9164620 C T SNP GPR157 ENST00000377411 human ensembl 74_37 -1 known missense c.866 p.R289Q 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor - no_errors GPR157 HGNC ENSG00000180758 44 0 0 36 2 5.26316 EVI5 0 genome.wustl.edu 37 1 93257933 93257933 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 93257933 93257933 T C SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known missense c.19 p.T7A 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 135 0 0 100 13 11.5044 ABCA4 0 genome.wustl.edu 37 1 94467506 94467506 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 94467506 94467506 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.6190 p.A2064T 0.998 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 114 0 0 75 5 6.25 ABCA4 0 genome.wustl.edu 37 1 94512630 94512630 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 94512630 94512630 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.2763 p.E921 0.998 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 255 0 0 181 34 15.814 ABCC2 0 genome.wustl.edu 37 10 101606727 101606727 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 101606727 101606727 C A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.4156 p.L1386M 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 ABCC2 HGNC ENSG00000023839 679 0 0 490 63 11.3924 PAX2 0 genome.wustl.edu 37 10 102586780 102586780 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 102586780 102586780 G A SNP PAX2 ENST00000428433 human ensembl 74_37 +1 known missense c.1105 p.G369S 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 64 0 0 43 4 8.51064 SFXN3 0 genome.wustl.edu 37 10 102795320 102795320 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 102795320 102795320 C T SNP SFXN3 ENST00000224807 human ensembl 74_37 +1 known silent c.240 p.S80 0.107 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN3 HGNC ENSG00000107819 68 0 0 64 10 13.5135 CUEDC2 0 genome.wustl.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 104184490 104184490 G A SNP CUEDC2 ENST00000369937 human ensembl 74_37 -1 known missense c.134 p.S45L 0.992 NULL pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC ENSG00000107874 137 0 0 112 12 9.67742 PDCD11 0 genome.wustl.edu 37 10 105177579 105177579 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 105177579 105177579 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1801 p.P601S 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 194 0 0 172 20 10.4167 SORCS3 0 genome.wustl.edu 37 10 106976777 106976777 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 106976777 106976777 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.2631 p.D877 0.143 pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 117 0 0 82 19 18.8119 CELF2 0 genome.wustl.edu 37 10 11363285 11363285 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 11363285 11363285 G A SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.1230 p.A410 0.017 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 50 0 0 35 5 12.5 PRLHR 0 genome.wustl.edu 37 10 120354381 120354381 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 120354381 120354381 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.376 p.G126S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 36 0 0 32 6 15.7895 BAG3 0 genome.wustl.edu 37 10 121436448 121436448 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 121436448 121436448 A T SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known missense c.1382 p.E461V 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 48 0 0 56 7 11.1111 INPP5F 0 genome.wustl.edu 37 10 121541188 121541188 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 121541188 121541188 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.220 p.V74M 1.000 pfam_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 131 0 0 89 16 15.2381 C10orf88 0 genome.wustl.edu 37 10 124691943 124691943 + Nonstop_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 124691943 124691943 T G SNP C10orf88 ENST00000481909 human ensembl 74_37 -1 known nonstop c.1338 p.*446Y 0.699 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 84 0 0 90 16 15.0943 PSTK 0 genome.wustl.edu 37 10 124746960 124746960 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 124746960 124746960 G A SNP PSTK ENST00000368887 human ensembl 74_37 +1 known missense c.988 p.A330T 0.000 NULL pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 128 0 0 117 12 9.30233 HMX3 0 genome.wustl.edu 37 10 124897036 124897036 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 124897036 124897036 C T SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known missense c.863 p.A288V 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 20 0 0 17 3 15 CHST15 0 genome.wustl.edu 37 10 125804216 125804216 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 125804216 125804216 A G SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.766 p.F256L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 43 0 0 36 5 12.1951 LHPP 0 genome.wustl.edu 37 10 126205813 126205813 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 126205813 126205813 C T SNP LHPP ENST00000368842 human ensembl 74_37 +1 known missense c.689 p.A230V 0.996 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 16 0 0 12 3 20 CTBP2 0 genome.wustl.edu 37 10 126694352 126694352 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 126694352 126694352 G C SNP CTBP2 ENST00000334808 human ensembl 74_37 -1 putative missense c.26 p.T9R 0.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 177 0 0 138 16 10.3896 ADAM12 0 genome.wustl.edu 37 10 127734632 127734632 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 127734632 127734632 C A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.1996 p.G666C 1.000 pfscan_EG-like_dom 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 143 0 0 119 18 13.1387 KNDC1 0 genome.wustl.edu 37 10 135020704 135020704 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 135020704 135020704 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3649 p.A1217T 0.031 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 23 0 0 20 6 23.0769 FRMD4A 0 genome.wustl.edu 37 10 13701408 13701408 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 13701408 13701408 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.1981 p.G661S 0.060 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 105 0 0 93 6 6.06061 RSU1 0 genome.wustl.edu 37 10 16806444 16806444 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 16806444 16806444 C T SNP RSU1 ENST00000345264 human ensembl 74_37 -1 known missense c.226 p.E76K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors RSU1 HGNC ENSG00000148484 294 0 0 223 20 8.23045 SKIDA1 0 genome.wustl.edu 37 10 21804116 21804116 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 21804116 21804116 G T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.2636 p.P879H 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 48 0 0 43 5 10.4167 APBB1IP 0 genome.wustl.edu 37 10 26800723 26800723 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 26800723 26800723 G T SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.579 p.M193I 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 163 0 0 113 16 12.4031 YME1L1 0 genome.wustl.edu 37 10 27405252 27405252 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 27405252 27405252 T C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1913 p.D638G 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 168 0 0 152 16 9.52381 KIF5B 0 genome.wustl.edu 37 10 32306280 32306280 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 32306280 32306280 C T SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.2552 p.R851H 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 76 0 0 80 11 12.0879 C10orf68 0 genome.wustl.edu 37 10 33137552 33137552 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 33137552 33137552 G A SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1722 p.M574I 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 145 0 0 145 8 5.22876 PARD3 0 genome.wustl.edu 37 10 34759011 34759011 + Splice_Site SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 34759011 34759011 A G SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known splice_site c.582+2 e4+2 1.000 - - - no_errors PARD3 HGNC ENSG00000148498 131 0 0 108 11 9.2437 CREM 0 genome.wustl.edu 37 10 35495831 35495831 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 35495831 35495831 G T SNP CREM ENST00000395895 human ensembl 74_37 +1 known missense c.790 p.G264C 1.000 prints_Leuzip_CREB pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 284 0 0 276 25 8.30565 ANKRD30A 0 genome.wustl.edu 37 10 37438712 37438712 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 37438712 37438712 T C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1412 p.I471T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 162 0 0 143 8 5.29801 DIP2C 0 genome.wustl.edu 37 10 465046 465046 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 465046 465046 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.698 p.A233V 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 139 0 0 95 26 21.4876 FRMPD2 0 genome.wustl.edu 37 10 49419998 49419998 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 49419998 49419998 C A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1610 p.R537M 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 40 0 0 25 4 13.7931 TUBAL3 0 genome.wustl.edu 37 10 5437415 5437415 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 5437415 5437415 G A SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.271 p.R91C 0.996 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 196 0 0 179 14 7.25389 NET1 0 genome.wustl.edu 37 10 5495290 5495290 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 5495290 5495290 T C SNP NET1 ENST00000355029 human ensembl 74_37 +1 known silent c.672 p.S224 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 249 0 0 226 39 14.717 FBXO18 0 genome.wustl.edu 37 10 5957467 5957467 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 5957467 5957467 C T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.1651 p.R551C 0.024 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 79 0 0 68 9 11.6883 EGR2 0 genome.wustl.edu 37 10 64573280 64573280 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 64573280 64573280 C T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.1118 p.R373Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 207 0 0 173 20 10.3627 PRKCQ 0 genome.wustl.edu 37 10 6553148 6553148 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 6553148 6553148 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known nonsense c.127 p.Q43* 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 226 0 0 194 21 9.76744 HNRNPH3 0 genome.wustl.edu 37 10 70097575 70097575 + RNA SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 70097575 70097575 A G SNP HNRNPH3 ENST00000469172 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 170 0 0 184 21 10.2439 STOX1 0 genome.wustl.edu 37 10 70645584 70645584 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 70645584 70645584 G A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.2032 p.V678M 0.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 247 0 0 193 17 8.09524 SUPV3L1 0 genome.wustl.edu 37 10 70949034 70949034 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 70949034 70949034 C T SNP SUPV3L1 ENST00000359655 human ensembl 74_37 +1 known missense c.584 p.A195V 1.000 superfamily_P-loop_NTPase pfam_SUV3_C,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 168 0 0 129 18 12.2449 PLA2G12B 0 genome.wustl.edu 37 10 74700992 74700992 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 74700992 74700992 C T SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known missense c.401 p.R134Q 1.000 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 288 0 0 220 32 12.6984 FUT11 0 genome.wustl.edu 37 10 75533122 75533122 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 75533122 75533122 C T SNP FUT11 ENST00000372841 human ensembl 74_37 +1 known missense c.883 p.R295C 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 113 0 0 99 16 13.913 NDST2 0 genome.wustl.edu 37 10 75565362 75565362 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 75565362 75565362 G A SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known nonsense c.1729 p.R577* 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 81 0 0 63 7 10 SAMD8 0 genome.wustl.edu 37 10 76910318 76910318 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 76910318 76910318 G A SNP SAMD8 ENST00000372690 human ensembl 74_37 +1 known missense c.221 p.R74H 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 97 0 0 67 11 14.1026 CDHR1 0 genome.wustl.edu 37 10 85973847 85973847 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 85973847 85973847 C T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.2050 p.R684W 0.009 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 224 0 0 132 12 8.33333 GRID1 0 genome.wustl.edu 37 10 87898605 87898605 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 87898605 87898605 G T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.697 p.P233T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 179 0 0 136 14 9.33333 BTAF1 0 genome.wustl.edu 37 10 93749219 93749219 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 93749219 93749219 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.2736 p.T912 0.722 pfam_DUF3535,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 144 0 0 102 17 14.2857 CYP26A1 0 genome.wustl.edu 37 10 94834608 94834608 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 94834608 94834608 A G SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.487 p.S163G 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 64 0 0 74 10 11.9048 PLCE1 0 genome.wustl.edu 37 10 95790896 95790896 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 95790896 95790896 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.93 p.E31 0.046 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 136 0 0 125 23 15.5405 PLCE1 0 genome.wustl.edu 37 10 96084180 96084180 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 96084180 96084180 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.6576 p.E2192D 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 444 0 0 380 48 11.215 SORBS1 0 genome.wustl.edu 37 10 97135731 97135731 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 97135731 97135731 G A SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known missense c.1103 p.P368L 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 141 0 0 109 16 12.8 ENTPD1 0 genome.wustl.edu 37 10 97599483 97599483 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 97599483 97599483 A G SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known silent c.216 p.T72 0.002 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 390 0 0 353 46 11.5288 PIK3AP1 0 genome.wustl.edu 37 10 98469667 98469667 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 98469667 98469667 G A SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known silent c.87 p.T29 0.360 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 74 0 0 55 6 9.83607 MUC6 0 genome.wustl.edu 37 11 1025196 1025196 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 1025196 1025196 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2971 p.A991T 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 193 0 0 165 19 10.3261 DYNC2H1 0 genome.wustl.edu 37 11 103057190 103057190 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 103057190 103057190 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known nonsense c.6853 p.Q2285* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 105 0 0 87 9 9.375 DDI1 0 genome.wustl.edu 37 11 103908380 103908380 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 103908380 103908380 A C SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.830 p.N277T 0.998 pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 154 0 0 151 16 9.58084 AMPD3 0 genome.wustl.edu 37 11 10500212 10500212 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 10500212 10500212 A C SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.361 p.T121P 0.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 168 1 0.591716 165 20 10.8108 DLAT 0 genome.wustl.edu 37 11 111916693 111916693 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 111916693 111916693 A C SNP DLAT ENST00000280346 human ensembl 74_37 +1 known missense c.1397 p.K466T 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 66 0 0 52 17 24.6377 UBE4A 0 genome.wustl.edu 37 11 118243291 118243291 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 118243291 118243291 C T SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known nonsense c.631 p.R211* 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 157 0 0 153 15 8.92857 KMT2A 0 genome.wustl.edu 37 11 118376657 118376657 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 118376657 118376657 A G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.10041 p.Q3347 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 386 0 0 311 49 13.6111 PHLDB1 0 genome.wustl.edu 37 11 118498177 118498177 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 118498177 118498177 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.638 p.G213D 0.301 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 97 0 0 82 9 9.89011 TRIM29 0 genome.wustl.edu 37 11 120008663 120008663 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 120008663 120008663 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.77 p.S26N 0.000 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 71 0 0 45 5 10 GRIK4 0 genome.wustl.edu 37 11 120702712 120702712 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 120702712 120702712 C A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.663 p.A221 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 118 0 0 103 6 5.50459 SC5D 0 genome.wustl.edu 37 11 121178116 121178116 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 121178116 121178116 G A SNP SC5D ENST00000264027 human ensembl 74_37 +1 known silent c.795 p.P265 0.001 NULL pfam_Fatty_acid_hydroxylase - no_errors SC5D HGNC ENSG00000109929 127 0 0 122 14 10.2941 C11orf63 0 genome.wustl.edu 37 11 122774913 122774913 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 122774913 122774913 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.625 p.P209S 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 164 1 0.606061 124 8 6.06061 SCN3B 0 genome.wustl.edu 37 11 123504900 123504900 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 123504900 123504900 G A SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known missense c.599 p.A200V 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN3B HGNC ENSG00000166257 100 0 0 72 10 12.1951 OR10S1 0 genome.wustl.edu 37 11 123847769 123847769 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 123847769 123847769 C A SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.630 p.E210D 0.732 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 103 0 0 83 19 18.6275 RPUSD4 0 genome.wustl.edu 37 11 126073382 126073382 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 126073382 126073382 G A SNP RPUSD4 ENST00000298317 human ensembl 74_37 -1 known silent c.1065 p.R355 0.001 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 134 0 0 112 20 15.1515 ABCC8 0 genome.wustl.edu 37 11 17415246 17415246 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 17415246 17415246 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.4609 p.A1537T 1.000 superfamily_P-loop_NTPase,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,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 296 0 0 209 46 18.0392 MRGPRX2 0 genome.wustl.edu 37 11 19077584 19077584 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 19077584 19077584 G A SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known silent c.366 p.T122 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 66 0 0 65 20 23.5294 E2F8 0 genome.wustl.edu 37 11 19251862 19251862 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 19251862 19251862 C A SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.1284 p.Q428H 0.989 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 185 0 0 169 26 13.3333 E2F8 0 genome.wustl.edu 37 11 19256576 19256576 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 19256576 19256576 C T SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.481 p.V161M 0.992 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 56 0 0 53 10 15.873 HTATIP2 0 genome.wustl.edu 37 11 20398193 20398193 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 20398193 20398193 G A SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known missense c.473 p.C158Y 1.000 NULL pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 169 0 0 155 14 8.28402 NELL1 0 genome.wustl.edu 37 11 20940864 20940864 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 20940864 20940864 C A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.743 p.A248D 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 136 0 0 105 10 8.69565 INS-IGF2 0 genome.wustl.edu 37 11 2170469 2170469 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 2170469 2170469 G A SNP INS-IGF2 ENST00000356578 human ensembl 74_37 -1 known silent c.294 p.A98 0.001 smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin - no_errors INS-IGF2 HGNC ENSG00000129965 186 1 0.534759 124 27 17.8808 INS-IGF2 0 genome.wustl.edu 37 11 2170496 2170496 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 2170496 2170496 C T SNP INS-IGF2 ENST00000356578 human ensembl 74_37 -1 known silent c.267 p.L89 0.856 smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin - no_errors INS-IGF2 HGNC ENSG00000129965 225 0 0 159 20 11.1732 KIF18A 0 genome.wustl.edu 37 11 28104447 28104447 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 28104447 28104447 T C SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known silent c.1218 p.Q406 0.033 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 84 0 0 54 12 18.1818 CARS 0 genome.wustl.edu 37 11 3028185 3028185 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 3028185 3028185 A G SNP CARS ENST00000380525 human ensembl 74_37 -1 known silent c.2073 p.P691 0.003 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 243 0 0 219 30 12.0482 MRGPRE 0 genome.wustl.edu 37 11 3249900 3249900 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 3249900 3249900 C T SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known missense c.130 p.A44T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 120 0 0 90 14 13.4615 EIF3M 0 genome.wustl.edu 37 11 32615494 32615494 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 32615494 32615494 A G SNP EIF3M ENST00000531120 human ensembl 74_37 +1 known missense c.616 p.R206G 1.000 NULL pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 100 0 0 125 10 7.40741 EIF3M 0 genome.wustl.edu 37 11 32616545 32616545 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 32616545 32616545 G A SNP EIF3M ENST00000531120 human ensembl 74_37 +1 known missense c.703 p.E235K 1.000 NULL pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 158 0 0 154 22 12.5 CSTF3 0 genome.wustl.edu 37 11 33163287 33163287 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 33163287 33163287 G A SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known missense c.151 p.R51W 1.000 smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 94 0 0 99 10 9.17431 TSSC2 0 genome.wustl.edu 37 11 3423931 3423931 + RNA SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 3423931 3423931 C A SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors TSSC2 HGNC ENSG00000223756 16 0 0 14 3 17.6471 EHF 0 genome.wustl.edu 37 11 34680476 34680476 + Nonstop_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 34680476 34680476 T C SNP EHF ENST00000257831 human ensembl 74_37 +1 known nonstop c.901 p.*301R 0.994 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 27 0 0 12 2 14.2857 LDLRAD3 0 genome.wustl.edu 37 11 36250790 36250790 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 36250790 36250790 G A SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known missense c.881 p.R294H 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 278 0 0 230 20 8 PGAP2 0 genome.wustl.edu 37 11 3846621 3846621 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 3846621 3846621 C T SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known missense c.881 p.T294M 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 69 0 0 50 8 13.7931 ANO9 0 genome.wustl.edu 37 11 420541 420541 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 420541 420541 G T SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1708 p.L570I 0.989 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 26 0 0 17 6 26.087 ANO9 0 genome.wustl.edu 37 11 428382 428382 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 428382 428382 C T SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1198 p.V400M 0.994 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 46 0 0 53 6 10.1695 ANO9 0 genome.wustl.edu 37 11 428757 428757 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 428757 428757 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.985 p.R329C 0.999 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 92 0 0 59 5 7.8125 HSD17B12 0 genome.wustl.edu 37 11 43876298 43876298 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 43876298 43876298 G A SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known missense c.718 p.A240T 0.998 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 248 0 0 248 36 12.6761 EXT2 0 genome.wustl.edu 37 11 44253919 44253919 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 44253919 44253919 C T SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known missense c.1778 p.P593L 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 120 0 0 85 14 14.1414 PACSIN3 0 genome.wustl.edu 37 11 47202094 47202094 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 47202094 47202094 C T SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known missense c.359 p.R120Q 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 74 0 0 47 3 6 OR51F1 0 genome.wustl.edu 37 11 4790663 4790663 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 4790663 4790663 A C SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.506 p.L169R 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 136 0 0 138 24 14.8148 PTPRJ 0 genome.wustl.edu 37 11 48158582 48158582 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 48158582 48158582 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1901 p.V634A 0.089 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 207 0 0 186 25 11.8483 OR51M1 0 genome.wustl.edu 37 11 5410819 5410819 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 5410819 5410819 A C SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.191 p.N64T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 245 1 0.406504 239 13 5.15873 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 70 0 0 74 14 15.9091 OR4A15 0 genome.wustl.edu 37 11 55135841 55135841 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 55135841 55135841 T C SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.482 p.L161S 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 498 0 0 399 58 12.6915 UBQLNL 0 genome.wustl.edu 37 11 5537570 5537570 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 5537570 5537570 T C SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.102 p.I34M 0.992 smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 215 0 0 187 27 12.6168 OR4P4 0 genome.wustl.edu 37 11 55406750 55406750 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 55406750 55406750 T C SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.917 p.L306P 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 99 0 0 94 12 11.3208 OR5D13 0 genome.wustl.edu 37 11 55541814 55541814 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 55541814 55541814 A G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.901 p.N301D 0.108 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 78 0 0 65 9 12.1622 OR52N5 0 genome.wustl.edu 37 11 5798944 5798944 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 5798944 5798944 T G SNP OR52N5 ENST00000317093 human ensembl 74_37 -1 known missense c.921 p.K307N 0.986 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 186 0 0 138 44 24.1758 OR52N5 0 genome.wustl.edu 37 11 5799070 5799070 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 5799070 5799070 G T SNP OR52N5 ENST00000317093 human ensembl 74_37 -1 known missense c.795 p.F265L 0.800 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 109 0 0 93 14 13.0841 OR5B21 0 genome.wustl.edu 37 11 58274744 58274744 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 58274744 58274744 T G SNP OR5B21 ENST00000360374 human ensembl 74_37 -1 known missense c.835 p.I279L 0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 266 0 0 236 31 11.6105 OR4D10 0 genome.wustl.edu 37 11 59245321 59245321 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 59245321 59245321 A G SNP OR4D10 ENST00000530162 human ensembl 74_37 +1 known missense c.419 p.H140R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 154 0 0 152 12 7.31707 TMEM109 0 genome.wustl.edu 37 11 60687309 60687309 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 60687309 60687309 A C SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.144 p.E48D 0.067 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 209 0 0 157 9 5.42169 RPLP0P2 0 genome.wustl.edu 37 11 61404639 61404639 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 61404639 61404639 C T SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 39 0 0 41 5 10.8696 FEN1 0 genome.wustl.edu 37 11 61562938 61562938 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 61562938 61562938 C A SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known silent c.105 p.A35 0.976 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPG/Rad2 pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 122 0 0 86 11 11.3402 GANAB 0 genome.wustl.edu 37 11 62406583 62406583 + Splice_Site SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 62406583 62406583 C A SNP GANAB ENST00000346178 human ensembl 74_37 -1 known splice_site c.253-1 e4-1 1.000 - - - no_errors GANAB HGNC ENSG00000089597 75 0 0 68 6 8.10811 CNGA4 0 genome.wustl.edu 37 11 6261352 6261352 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 6261352 6261352 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.328 p.V110I 0.507 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 215 0 0 200 28 12.2807 STIP1 0 genome.wustl.edu 37 11 63970612 63970612 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 63970612 63970612 G A SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known missense c.1298 p.R433Q 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 110 0 0 79 11 12.2222 RASGRP2 0 genome.wustl.edu 37 11 64504344 64504344 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 64504344 64504344 G T SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known silent c.976 p.R326 0.939 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 31 0 0 37 3 7.5 SLC25A45 0 genome.wustl.edu 37 11 65144459 65144459 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 65144459 65144459 C T SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known missense c.428 p.R143Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 59 0 0 49 4 7.54717 KCNK7 0 genome.wustl.edu 37 11 65360998 65360998 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 65360998 65360998 C T SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known missense c.667 p.G223S 0.026 pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 50 0 0 26 7 21.2121 RELA 0 genome.wustl.edu 37 11 65429465 65429465 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 65429465 65429465 C T SNP RELA ENST00000406246 human ensembl 74_37 -1 known silent c.129 p.A43 0.101 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 53 0 0 42 3 6.66667 EFEMP2 0 genome.wustl.edu 37 11 65637348 65637348 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 65637348 65637348 C A SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.707 p.R236L 0.880 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 160 0 0 114 14 10.9375 SART1 0 genome.wustl.edu 37 11 65746365 65746365 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 65746365 65746365 C A SNP SART1 ENST00000312397 human ensembl 74_37 +1 known silent c.2364 p.G788 1.000 NULL pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 136 1 0.729927 123 21 14.5833 SF3B2 0 genome.wustl.edu 37 11 65824848 65824848 + Splice_Site SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 65824848 65824848 T C SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known splice_site c.777+2 e7+2 1.000 - - - no_errors SF3B2 HGNC ENSG00000087365 176 0 0 142 14 8.97436 TAF10 0 genome.wustl.edu 37 11 6632238 6632238 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 6632238 6632238 C T SNP TAF10 ENST00000299424 human ensembl 74_37 -1 known missense c.572 p.R191H 1.000 pirsf_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC ENSG00000166337 116 0 0 87 12 12.1212 RBM4 0 genome.wustl.edu 37 11 66411054 66411054 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 66411054 66411054 C T SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known silent c.546 p.R182 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 102 0 0 92 8 8 DCHS1 0 genome.wustl.edu 37 11 6650800 6650800 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 6650800 6650800 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.5044 p.G1682R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 37 0 0 26 3 10.3448 OR2AG1 0 genome.wustl.edu 37 11 6807156 6807156 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 6807156 6807156 G A SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known silent c.888 p.E296 0.794 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AG1 HGNC ENSG00000170803 139 0 0 116 12 9.375 LRP5 0 genome.wustl.edu 37 11 68192724 68192724 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 68192724 68192724 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3391 p.A1131T 0.989 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 51 0 0 25 4 13.7931 LRP5 0 genome.wustl.edu 37 11 68197061 68197061 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 68197061 68197061 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3656 p.R1219H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 127 0 0 106 17 13.8211 IGHMBP2 0 genome.wustl.edu 37 11 68704492 68704492 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 68704492 68704492 C T SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.2544 p.P848 0.000 NULL pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 37 0 0 23 4 14.8148 OR2D3 0 genome.wustl.edu 37 11 6942342 6942342 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 6942342 6942342 T C SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.110 p.L37S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 197 0 0 177 22 11.0553 INPPL1 0 genome.wustl.edu 37 11 71942235 71942235 + Splice_Site SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 71942235 71942235 T C SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known splice_site c.1497+2 e12+2 1.000 - - - no_errors INPPL1 HGNC ENSG00000165458 201 1 0.49505 175 13 6.91489 P2RY6 0 genome.wustl.edu 37 11 73008170 73008170 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 73008170 73008170 C T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known silent c.607 p.L203 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 143 0 0 99 9 8.33333 MAP6 0 genome.wustl.edu 37 11 75298700 75298700 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 75298700 75298700 C T SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.1846 p.G616S 0.001 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 328 0 0 251 36 12.5436 MAP6 0 genome.wustl.edu 37 11 75299206 75299206 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 75299206 75299206 T C SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.1340 p.D447G 0.123 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 136 0 0 100 9 8.25688 CYB5R2 0 genome.wustl.edu 37 11 7690880 7690880 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 7690880 7690880 T C SNP CYB5R2 ENST00000299498 human ensembl 74_37 -1 known silent c.234 p.R78 0.013 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 125 0 0 97 12 11.0092 GAB2 0 genome.wustl.edu 37 11 77937768 77937768 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 77937768 77937768 G A SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.950 p.P317L 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 101 0 0 81 15 15.625 TMEM135 0 genome.wustl.edu 37 11 87029199 87029199 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 87029199 87029199 T C SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known silent c.1098 p.I366 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 222 0 0 197 35 15.0862 ST5 0 genome.wustl.edu 37 11 8752397 8752397 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 8752397 8752397 G T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.440 p.P147H 0.144 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 81 0 0 81 9 10 TYR 0 genome.wustl.edu 37 11 88911703 88911703 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 88911703 88911703 C T SNP TYR ENST00000263321 human ensembl 74_37 +1 known silent c.582 p.I194 0.995 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 270 0 0 215 51 19.1729 BTBD11 0 genome.wustl.edu 37 12 108004005 108004005 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 108004005 108004005 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 215 1 0.462963 172 23 11.7949 TCHP 0 genome.wustl.edu 37 12 110353251 110353251 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 110353251 110353251 A C SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.1364 p.E455A 0.159 NULL NULL - no_errors TCHP HGNC ENSG00000139437 106 0 0 74 8 9.7561 MAPKAPK5 0 genome.wustl.edu 37 12 112321467 112321467 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 112321467 112321467 G A SNP MAPKAPK5 ENST00000551404 human ensembl 74_37 +1 known missense c.743 p.R248Q 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,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 MAPKAPK5 HGNC ENSG00000089022 284 1 0.350877 270 25 8.47458 PTPN11 0 genome.wustl.edu 37 12 112926270 112926270 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 112926270 112926270 C T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1403 p.T468M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 179 0 0 150 15 9.09091 DTX1 0 genome.wustl.edu 37 12 113515274 113515274 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 113515274 113515274 C T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.305 p.A102V 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 63 0 0 39 7 15.2174 RNFT2 0 genome.wustl.edu 37 12 117204721 117204721 + Splice_Site SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 117204721 117204721 T C SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known splice_site c.728+2 e5+2 1.000 - - - no_errors RNFT2 HGNC ENSG00000135119 18 0 0 16 3 15.7895 RNF34 0 genome.wustl.edu 37 12 121858580 121858580 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 121858580 121858580 C A SNP RNF34 ENST00000392465 human ensembl 74_37 +1 known silent c.930 p.S310 0.999 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 127 0 0 101 16 13.6752 LRRC43 0 genome.wustl.edu 37 12 122684857 122684857 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 122684857 122684857 G A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1471 p.V491M 0.317 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 90 0 0 67 11 14.1026 KNTC1 0 genome.wustl.edu 37 12 123042005 123042005 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 123042005 123042005 C A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.1347 p.T449 0.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 88 0 0 84 11 11.5789 KNTC1 0 genome.wustl.edu 37 12 123105091 123105091 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 123105091 123105091 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.6215 p.P2072L 0.999 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 68 0 0 47 7 12.963 HCAR1 0 genome.wustl.edu 37 12 123214587 123214587 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 123214587 123214587 G A SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known silent c.300 p.A100 0.661 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 54 0 0 42 8 16 NCOR2 0 genome.wustl.edu 37 12 124821440 124821440 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 124821440 124821440 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.5995 p.A1999T 0.987 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 33 0 0 27 4 12.9032 LOH12CR1 0 genome.wustl.edu 37 12 12618589 12618589 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 12618589 12618589 G A SNP LOH12CR1 ENST00000314565 human ensembl 74_37 +1 known missense c.470 p.R157H 1.000 pfam_Tumour_suppressor_LOH1CR12 pfam_Tumour_suppressor_LOH1CR12 - no_errors LOH12CR1 HGNC ENSG00000165714 99 0 0 86 16 15.6863 SLC15A4 0 genome.wustl.edu 37 12 129293942 129293942 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 129293942 129293942 G A SNP SLC15A4 ENST00000266771 human ensembl 74_37 -1 known missense c.1088 p.T363M 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 265 0 0 190 25 11.6279 FZD10 0 genome.wustl.edu 37 12 130648814 130648814 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 130648814 130648814 C T SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.1327 p.R443C 0.958 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 82 0 0 54 7 11.4754 GPR133 0 genome.wustl.edu 37 12 131490544 131490544 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 131490544 131490544 A G SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1283 p.Y428C 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 71 0 0 49 8 14.0351 EP400 0 genome.wustl.edu 37 12 132472386 132472386 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 132472386 132472386 C A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.2468 p.A823D 1.000 pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 45 0 0 37 5 11.9048 EP400 0 genome.wustl.edu 37 12 132490715 132490715 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 132490715 132490715 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.3102 p.S1034 0.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 82 0 0 65 11 14.4737 DDX51 0 genome.wustl.edu 37 12 132625272 132625272 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 132625272 132625272 G A SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known silent c.1449 p.Y483 0.637 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 80 0 0 67 12 15.1899 POLE 0 genome.wustl.edu 37 12 133244943 133244943 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 133244943 133244943 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.2172 p.A724 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 203 0 0 140 12 7.89474 EPS8 0 genome.wustl.edu 37 12 15776135 15776135 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 15776135 15776135 G A SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.2312 p.A771V 1.000 superfamily_SAM/pointed pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 152 0 0 141 21 12.963 ABCC9 0 genome.wustl.edu 37 12 22005084 22005084 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 22005084 22005084 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2716 p.L906I 1.000 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 77 0 0 60 13 17.8082 ST8SIA1 0 genome.wustl.edu 37 12 22354742 22354742 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 22354742 22354742 C T SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.815 p.R272H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 123 0 0 115 15 11.5385 SOX5 0 genome.wustl.edu 37 12 23757415 23757415 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 23757415 23757415 A C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1070 p.L357R 0.987 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 132 0 0 91 11 10.7843 GXYLT1 0 genome.wustl.edu 37 12 42499688 42499688 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 42499688 42499688 C A SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known nonsense c.796 p.G266* 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 138 0 0 96 24 20 IRAK4 0 genome.wustl.edu 37 12 44177520 44177520 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 44177520 44177520 A C SNP IRAK4 ENST00000448290 human ensembl 74_37 +1 known missense c.1181 p.Q394P 1.000 pirsf_IL-1_rcpt-assoc_kin4,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 pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IRAK4 HGNC ENSG00000198001 44 0 0 43 5 10.4167 NELL2 0 genome.wustl.edu 37 12 45173737 45173737 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 45173737 45173737 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.554 p.R185H 0.356 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 214 0 0 184 21 10.2439 COL2A1 0 genome.wustl.edu 37 12 48367873 48367873 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 48367873 48367873 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.4316 p.T1439M 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 79 0 0 79 19 19.3878 OR8S1 0 genome.wustl.edu 37 12 48921795 48921795 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 48921795 48921795 G A SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known missense c.989 p.G330E 0.008 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 45 0 0 46 3 6.12245 ADCY6 0 genome.wustl.edu 37 12 49170889 49170889 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 49170889 49170889 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known silent c.1374 p.I458 0.996 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 324 0 0 262 31 10.5802 KMT2D 0 genome.wustl.edu 37 12 49445987 49445987 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 49445987 49445987 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.1479 p.P493 0.762 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 105 0 0 86 9 9.47368 PRPF40B 0 genome.wustl.edu 37 12 50036136 50036136 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 50036136 50036136 T C SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.2003 p.L668P 0.994 superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 96 0 0 92 11 10.6796 KCNA1 0 genome.wustl.edu 37 12 5021148 5021148 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 5021148 5021148 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.604 p.V202I 0.001 prints_K_chnl_volt-dep_Kv1.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 84 0 0 76 15 16.4835 CERS5 0 genome.wustl.edu 37 12 50528418 50528418 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 50528418 50528418 T C SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known missense c.940 p.N314D 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 237 1 0.420168 174 14 7.44681 DAZAP2 0 genome.wustl.edu 37 12 51634178 51634178 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 51634178 51634178 T C SNP DAZAP2 ENST00000549555 human ensembl 74_37 +1 known missense c.65 p.V22A 1.000 NULL pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 186 0 0 177 13 6.84211 KRT7 0 genome.wustl.edu 37 12 52639292 52639292 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 52639292 52639292 C A SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known missense c.1081 p.L361M 1.000 pfam_IF,superfamily_Chorismate_mutase_type_II pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 69 0 0 52 8 13.3333 KRT72 0 genome.wustl.edu 37 12 52979783 52979783 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 52979783 52979783 T G SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1519 p.K507Q 0.899 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 354 0 0 280 45 13.8462 ESPL1 0 genome.wustl.edu 37 12 53671679 53671679 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 53671679 53671679 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.2299 p.R767W 0.968 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 111 0 0 87 13 13 ESPL1 0 genome.wustl.edu 37 12 53680370 53680370 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 53680370 53680370 A G SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3850 p.T1284A 0.300 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 108 0 0 106 7 6.19469 ESPL1 0 genome.wustl.edu 37 12 53683934 53683934 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 53683934 53683934 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.5179 p.L1727 0.951 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 53 0 0 56 9 13.8462 DGKA 0 genome.wustl.edu 37 12 56347164 56347164 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 56347164 56347164 C T SNP DGKA ENST00000331886 human ensembl 74_37 +1 known silent c.2094 p.D698 0.996 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 394 0 0 341 46 11.8863 CDK2 0 genome.wustl.edu 37 12 56362617 56362617 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 56362617 56362617 T C SNP CDK2 ENST00000266970 human ensembl 74_37 +1 known missense c.371 p.L124P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK2 HGNC ENSG00000123374 211 0 0 132 15 10.2041 TIMELESS 0 genome.wustl.edu 37 12 56827603 56827603 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 56827603 56827603 G T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.205 p.L69I 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 175 0 0 145 11 7.05128 BAZ2A 0 genome.wustl.edu 37 12 57000083 57000083 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 57000083 57000083 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.2213 p.R738Q 0.999 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 118 0 0 111 10 8.26446 NACA 0 genome.wustl.edu 37 12 57106630 57106630 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 57106630 57106630 C A SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.6162 p.S2054 0.971 superfamily_UBA-like pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 230 1 0.4329 185 11 5.61224 RDH16 0 genome.wustl.edu 37 12 57351342 57351342 + RNA SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 57351342 57351342 A G SNP RDH16 ENST00000360752 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RDH16 HGNC ENSG00000139547 41 0 0 43 5 10.4167 LRP1 0 genome.wustl.edu 37 12 57566979 57566979 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 57566979 57566979 T C SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.3192 p.T1064 0.020 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 82 0 0 38 4 9.52381 R3HDM2 0 genome.wustl.edu 37 12 57652728 57652728 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 57652728 57652728 A G SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.2204 p.M735T 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 155 0 0 125 14 10.0719 OS9 0 genome.wustl.edu 37 12 58114666 58114666 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 58114666 58114666 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1978 p.G660R 0.964 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 93 0 0 68 12 15 MON2 0 genome.wustl.edu 37 12 62861070 62861070 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 62861070 62861070 G A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.83 p.C28Y 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 152 0 0 107 11 9.32203 C12orf56 0 genome.wustl.edu 37 12 64678530 64678530 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 64678530 64678530 T C SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known silent c.744 p.A248 0.555 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 32 0 0 16 3 15.7895 MRPL51 0 genome.wustl.edu 37 12 6602121 6602121 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 6602121 6602121 C A SNP MRPL51 ENST00000229238 human ensembl 74_37 -1 known missense c.97 p.G33C 0.000 NULL pfam_Ribosomal_L51_mit - no_errors MRPL51 HGNC ENSG00000111639 137 0 0 112 11 8.94309 CHD4 0 genome.wustl.edu 37 12 6692236 6692236 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 6692236 6692236 C A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.4188 p.V1396 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 157 0 0 137 14 9.27152 ATN1 0 genome.wustl.edu 37 12 7046278 7046278 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 7046278 7046278 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1848 p.T616 0.929 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 168 0 0 132 12 8.33333 C1S 0 genome.wustl.edu 37 12 7173936 7173936 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 7173936 7173936 A G SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.986 p.E329G 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 65 0 0 72 5 6.49351 CD163 0 genome.wustl.edu 37 12 7649572 7649572 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 7649572 7649572 G A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known silent c.936 p.A312 0.061 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 105 0 0 93 10 9.70874 BBS10 0 genome.wustl.edu 37 12 76741004 76741004 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 76741004 76741004 T C SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known missense c.761 p.D254G 0.869 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 61 0 0 71 5 6.57895 CSRP2 0 genome.wustl.edu 37 12 77252786 77252786 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 77252786 77252786 C T SNP CSRP2 ENST00000311083 human ensembl 74_37 -1 known silent c.528 p.G176 1.000 pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC ENSG00000175183 124 0 0 106 12 10.1695 PPFIA2 0 genome.wustl.edu 37 12 81769649 81769649 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 81769649 81769649 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.1057 p.E353K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 101 0 0 82 13 13.6842 C3AR1 0 genome.wustl.edu 37 12 8212287 8212287 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 8212287 8212287 A G SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known silent c.495 p.T165 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 202 0 0 145 19 11.5854 LRRIQ1 0 genome.wustl.edu 37 12 85441250 85441250 + Splice_Site SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 85441250 85441250 T C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known splice_site c.678+2 e5+2 0.995 - - - no_errors LRRIQ1 HGNC ENSG00000133640 84 0 0 73 8 9.87654 RIMKLB 0 genome.wustl.edu 37 12 8902584 8902584 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 8902584 8902584 G A SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.302 p.R101Q 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 150 0 0 134 19 12.4183 RIMKLB 0 genome.wustl.edu 37 12 8926159 8926159 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 8926159 8926159 C T SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.940 p.R314W 1.000 NULL pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 123 0 0 75 20 21.0526 A2M 0 genome.wustl.edu 37 12 9246162 9246162 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 9246162 9246162 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.2139 p.M713I 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 43 0 0 51 8 13.5593 TMPO 0 genome.wustl.edu 37 12 98921765 98921765 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 98921765 98921765 C T SNP TMPO ENST00000266732 human ensembl 74_37 +1 known silent c.381 p.Y127 0.998 pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 226 0 0 218 14 6.03448 NALCN 0 genome.wustl.edu 37 13 101733934 101733934 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 101733934 101733934 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3829 p.D1277N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 118 0 0 107 15 12.2951 MYO16 0 genome.wustl.edu 37 13 109496835 109496835 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 109496835 109496835 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.1176 p.P392 0.376 superfamily_P-loop_NTPase 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 82 0 0 81 7 7.95455 MYO16 0 genome.wustl.edu 37 13 109535430 109535430 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 109535430 109535430 C A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.1383 p.S461 0.012 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 341 0 0 247 74 23.053 CUL4A 0 genome.wustl.edu 37 13 113909114 113909114 + Splice_Site SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 113909114 113909114 T C SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known splice_site c.1858+2 e17+2 1.000 - - - no_errors CUL4A HGNC ENSG00000139842 171 0 0 132 16 10.8108 SKA3 0 genome.wustl.edu 37 13 21742240 21742240 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 21742240 21742240 C A SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known missense c.630 p.M210I 1.000 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 469 0 0 404 37 8.39002 SACS 0 genome.wustl.edu 37 13 23913780 23913780 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 23913780 23913780 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.4235 p.L1412P 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 251 0 0 173 27 13.5 RNF17 0 genome.wustl.edu 37 13 25370393 25370393 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 25370393 25370393 T C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known silent c.1359 p.N453 0.926 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 191 0 0 174 23 11.6751 POLR1D 0 genome.wustl.edu 37 13 28240022 28240022 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 28240022 28240022 G A SNP POLR1D ENST00000399697 human ensembl 74_37 +1 novel missense c.301 p.A101T 0.000 NULL NULL - no_errors POLR1D HGNC ENSG00000186184 84 0 0 73 10 12.0482 USPL1 0 genome.wustl.edu 37 13 31232078 31232078 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 31232078 31232078 A C SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known missense c.1864 p.T622P 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 190 0 0 144 20 12.1951 CSNK1A1L 0 genome.wustl.edu 37 13 37679304 37679304 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 37679304 37679304 G A SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known silent c.90 p.D30 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 153 0 0 137 31 18.4524 PROSER1 0 genome.wustl.edu 37 13 39585610 39585610 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 39585610 39585610 C A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.2727 p.S909 0.061 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 98 0 0 79 11 12.2222 NHLRC3 0 genome.wustl.edu 37 13 39613801 39613801 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 39613801 39613801 C T SNP NHLRC3 ENST00000379600 human ensembl 74_37 +1 known missense c.338 p.A113V 0.998 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 196 0 0 138 13 8.60927 TSC22D1 0 genome.wustl.edu 37 13 45148680 45148680 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 45148680 45148680 C T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.1531 p.A511T 0.853 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 253 0 0 206 26 11.2069 RB1 0 genome.wustl.edu 37 13 49039361 49039361 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 49039361 49039361 A G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.2346 p.I782M 1.000 pfam_RB_C,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 352 1 0.283286 293 41 12.2754 RCBTB2 0 genome.wustl.edu 37 13 49084844 49084844 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 49084844 49084844 C T SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known missense c.862 p.A288T 0.998 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 146 0 0 114 21 15.5556 THSD1 0 genome.wustl.edu 37 13 52952823 52952823 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 52952823 52952823 T C SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1282 p.I428V 0.002 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 86 0 0 77 8 9.41176 PCDH17 0 genome.wustl.edu 37 13 58208600 58208600 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 58208600 58208600 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1920 p.P640 0.423 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 206 0 0 177 11 5.85106 PCDH9 0 genome.wustl.edu 37 13 67800109 67800109 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 67800109 67800109 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2464 p.G822S 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 300 0 0 278 37 11.746 PCDH9 0 genome.wustl.edu 37 13 67801921 67801921 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 67801921 67801921 A G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.652 p.Y218H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 299 0 0 268 31 10.3679 SLITRK5 0 genome.wustl.edu 37 13 88329745 88329745 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 88329745 88329745 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2102 p.S701N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 61 0 0 60 10 14.2857 GPC6 0 genome.wustl.edu 37 13 94938667 94938667 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 94938667 94938667 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known silent c.942 p.P314 0.044 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 67 0 0 75 5 6.25 FARP1 0 genome.wustl.edu 37 13 99047705 99047705 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 99047705 99047705 A G SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known silent c.1389 p.K463 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 127 1 0.78125 102 9 8.10811 TECPR2 0 genome.wustl.edu 37 14 102880991 102880991 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 102880991 102880991 C T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.499 p.L167 0.004 superfamily_WD40_repeat_dom pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 210 0 0 188 19 9.17874 TECPR2 0 genome.wustl.edu 37 14 102912238 102912238 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 102912238 102912238 G T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.3029 p.G1010V 1.000 pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 149 0 0 86 24 21.8182 MTA1 0 genome.wustl.edu 37 14 105935825 105935825 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 105935825 105935825 C T SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.1835 p.A612V 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 58 0 0 43 5 10.4167 OR4K15 0 genome.wustl.edu 37 14 20443857 20443857 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 20443857 20443857 A G SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known silent c.180 p.L60 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 346 0 0 301 43 12.5 CHD8 0 genome.wustl.edu 37 14 21883898 21883898 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 21883898 21883898 T C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1885 p.M629V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 138 0 0 133 9 6.33803 SLC7A7 0 genome.wustl.edu 37 14 23243598 23243598 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 23243598 23243598 G A SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known missense c.1210 p.R404C 1.000 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 327 0 0 276 36 11.5385 MYH6 0 genome.wustl.edu 37 14 23853710 23853710 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 23853710 23853710 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.5506 p.A1836T 0.001 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 219 0 0 170 19 10.0529 LTB4R2 0 genome.wustl.edu 37 14 24780927 24780927 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 24780927 24780927 G A SNP LTB4R2 ENST00000528054 human ensembl 74_37 +1 known missense c.1150 p.G384S 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-2_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R2 Uniprot_gn ENSG00000272658 65 0 0 35 9 20.4545 NYNRIN 0 genome.wustl.edu 37 14 24884853 24884853 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 24884853 24884853 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.3898 p.P1300S 0.745 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 221 0 0 206 21 9.2511 GZMH 0 genome.wustl.edu 37 14 25075943 25075943 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 25075943 25075943 C T SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.607 p.G203R 0.813 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 161 0 0 140 9 6.04027 GZMB 0 genome.wustl.edu 37 14 25101617 25101617 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 25101617 25101617 C T SNP GZMB ENST00000382542 human ensembl 74_37 -1 known silent c.354 p.P118 0.014 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMB HGNC ENSG00000100453 116 0 0 95 15 13.6364 FAM179B 0 genome.wustl.edu 37 14 45433605 45433605 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 45433605 45433605 T C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.1981 p.W661R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 74 0 0 73 8 9.87654 SLC35F4 0 genome.wustl.edu 37 14 58060660 58060660 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 58060660 58060660 A T SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known missense c.394 p.S132T 1.000 NULL pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 96 0 0 81 8 8.98876 KIAA0586 0 genome.wustl.edu 37 14 58915174 58915174 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 58915174 58915174 T C SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known silent c.879 p.C293 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 117 0 0 110 8 6.77966 RTN1 0 genome.wustl.edu 37 14 60213155 60213155 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 60213155 60213155 T C SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.286 p.T96A 0.001 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 61 0 0 69 6 8 HIF1A 0 genome.wustl.edu 37 14 62213706 62213706 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 62213706 62213706 T C SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.2456 p.L819P 1.000 pfam_HIF-1_TAD_C pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 224 0 0 201 11 5.18868 SYNE2 0 genome.wustl.edu 37 14 64679610 64679610 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 64679610 64679610 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.18943 p.E6315K 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 155 0 0 119 10 7.75194 ZFYVE26 0 genome.wustl.edu 37 14 68249834 68249834 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 68249834 68249834 C T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known silent c.4035 p.V1345 0.033 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 138 0 0 104 13 11.1111 ACTN1 0 genome.wustl.edu 37 14 69369233 69369233 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 69369233 69369233 G A SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known silent c.723 p.Y241 0.836 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 162 0 0 124 18 12.6761 SRSF5 0 genome.wustl.edu 37 14 70237203 70237203 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 70237203 70237203 G A SNP SRSF5 ENST00000394366 human ensembl 74_37 +1 novel missense c.386 p.R129K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 102 0 0 107 8 6.95652 ESRRB 0 genome.wustl.edu 37 14 76928919 76928919 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 76928919 76928919 C T SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known silent c.429 p.N143 0.792 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 86 0 0 50 10 16.6667 ANGEL1 0 genome.wustl.edu 37 14 77255720 77255720 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 77255720 77255720 A G SNP ANGEL1 ENST00000251089 human ensembl 74_37 -1 known missense c.1864 p.Y622H 0.324 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 103 0 0 92 13 12.381 ISM2 0 genome.wustl.edu 37 14 77951252 77951252 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 77951252 77951252 G A SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.152 p.S51F 0.997 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 121 0 0 81 9 10 CEP128 0 genome.wustl.edu 37 14 81382887 81382887 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 81382887 81382887 G T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.5 p.A2E 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 133 1 0.746269 117 21 15.2174 STON2 0 genome.wustl.edu 37 14 81737109 81737109 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 81737109 81737109 T C SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.2518 p.T840A 0.990 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 233 0 0 182 33 15.3488 EML5 0 genome.wustl.edu 37 14 89154773 89154773 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 89154773 89154773 T C SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.2584 p.K862E 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 567 1 0.176056 453 56 11.002 FOXN3 0 genome.wustl.edu 37 14 89747302 89747302 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 89747302 89747302 A C SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.737 p.L246R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 39 0 0 28 6 17.6471 TTC7B 0 genome.wustl.edu 37 14 91252559 91252559 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 91252559 91252559 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.235 p.R79C 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 81 0 0 50 11 18.0328 SMEK1 0 genome.wustl.edu 37 14 91937310 91937310 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 91937310 91937310 G A SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.1531 p.L511F 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 152 0 0 115 14 10.8527 LRRK1 0 genome.wustl.edu 37 15 101528930 101528930 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 101528930 101528930 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.525 p.T175 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 136 0 0 120 12 9.09091 SNRPA1 0 genome.wustl.edu 37 15 101833229 101833229 + Splice_Site SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 101833229 101833229 C G SNP SNRPA1 ENST00000254193 human ensembl 74_37 -1 known splice_site c.230+1 e2+1 1.000 - - - no_errors SNRPA1 HGNC ENSG00000131876 107 0 0 91 5 5.20833 CYFIP1 0 genome.wustl.edu 37 15 22969309 22969309 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 22969309 22969309 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.2535 p.W845C 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 114 0 0 94 11 10.4762 NDN 0 genome.wustl.edu 37 15 23931620 23931620 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 23931620 23931620 G A SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.745 p.R249C 0.995 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 74 0 0 58 7 10.7692 ATP10A 0 genome.wustl.edu 37 15 25925050 25925050 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 25925050 25925050 T G SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3938 p.K1313T 0.000 NULL 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 219 0 0 150 29 16.2011 TJP1 0 genome.wustl.edu 37 15 30003035 30003035 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 30003035 30003035 C A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.4372 p.G1458C 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 289 0 0 212 23 9.78723 MTMR10 0 genome.wustl.edu 37 15 31239370 31239370 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 31239370 31239370 A G SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.1511 p.L504P 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 235 0 0 149 26 14.8571 NOP10 0 genome.wustl.edu 37 15 34634282 34634282 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 34634282 34634282 A G SNP NOP10 ENST00000328848 human ensembl 74_37 -1 known missense c.82 p.C28R 1.000 pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10 pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10 - no_errors NOP10 HGNC ENSG00000182117 74 0 0 70 4 5.40541 AQR 0 genome.wustl.edu 37 15 35224614 35224614 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 35224614 35224614 A C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.805 p.W269G 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 106 0 0 88 8 8.33333 BAHD1 0 genome.wustl.edu 37 15 40751732 40751732 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 40751732 40751732 A C SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.1069 p.M357L 0.926 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 128 0 0 93 34 26.7717 INO80 0 genome.wustl.edu 37 15 41346200 41346200 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 41346200 41346200 C T SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.2201 p.R734H 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 85 0 0 74 8 9.7561 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42133102 42133102 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 42133102 42133102 A G SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.1043 p.Q348R 0.970 superfamily_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 84 0 0 76 14 15.5556 SPTBN5 0 genome.wustl.edu 37 15 42155999 42155999 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 42155999 42155999 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.7052 p.G2351D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 188 0 0 122 10 7.57576 SPTBN5 0 genome.wustl.edu 37 15 42167136 42167136 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 42167136 42167136 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4406 p.R1469Q 0.988 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 43 0 0 32 4 11.1111 CAPN3 0 genome.wustl.edu 37 15 42652149 42652149 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 42652149 42652149 G A SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.146 p.R49H 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 373 0 0 327 33 9.16667 EPB42 0 genome.wustl.edu 37 15 43500967 43500967 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 43500967 43500967 C T SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known missense c.929 p.R310Q 0.989 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 81 0 0 61 8 11.5942 LCMT2 0 genome.wustl.edu 37 15 43620632 43620632 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 43620632 43620632 G A SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known nonsense c.2056 p.Q686* 0.017 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 161 0 0 166 19 10.2703 TP53BP1 0 genome.wustl.edu 37 15 43784282 43784282 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 43784282 43784282 G T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known silent c.204 p.S68 0.993 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 192 0 0 167 10 5.64972 GATM 0 genome.wustl.edu 37 15 45661663 45661663 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 45661663 45661663 A G SNP GATM ENST00000396659 human ensembl 74_37 -1 known silent c.345 p.F115 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 129 0 0 97 16 14.1593 MYO5C 0 genome.wustl.edu 37 15 52515817 52515817 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 52515817 52515817 T C SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.3551 p.Q1184R 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 165 0 0 120 23 16.0839 MYO5C 0 genome.wustl.edu 37 15 52548869 52548869 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 52548869 52548869 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known silent c.1362 p.Y454 0.934 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 236 1 0.421941 184 20 9.80392 UNC13C 0 genome.wustl.edu 37 15 54305975 54305975 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 54305975 54305975 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.875 p.R292H 0.995 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 208 0 0 192 25 11.5207 GCOM1 0 genome.wustl.edu 37 15 57929928 57929928 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 57929928 57929928 T C SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known silent c.969 p.H323 0.994 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 55 0 0 40 9 18.3673 TLN2 0 genome.wustl.edu 37 15 63084970 63084970 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 63084970 63084970 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.5867 p.R1956H 1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 59 0 0 46 6 11.5385 PIF1 0 genome.wustl.edu 37 15 65108840 65108840 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 65108840 65108840 G A SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.1799 p.A600V 1.000 pfam_DNA_helicase,superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 144 0 0 119 11 8.46154 PML 0 genome.wustl.edu 37 15 74315534 74315534 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 74315534 74315534 T C SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.968 p.L323P 1.000 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 34 0 0 29 2 6.45161 ISLR2 0 genome.wustl.edu 37 15 74427112 74427112 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 74427112 74427112 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known nonsense c.2017 p.Q673* 0.007 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 50 0 0 53 11 17.1875 CSK 0 genome.wustl.edu 37 15 75091756 75091756 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 75091756 75091756 A G SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.386 p.Y129C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 55 0 0 54 9 14.2857 MAN2C1 0 genome.wustl.edu 37 15 75648662 75648662 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 75648662 75648662 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.2866 p.V956I 0.968 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 21 0 0 13 5 27.7778 PEAK1 0 genome.wustl.edu 37 15 77425370 77425370 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 77425370 77425370 G A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4054 p.P1352S 1.000 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 154 0 0 136 23 14.4654 KIAA1199 0 genome.wustl.edu 37 15 81234237 81234237 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 81234237 81234237 C A SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3455 p.A1152D 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 110 0 0 85 7 7.6087 CPEB1 0 genome.wustl.edu 37 15 83218321 83218321 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 83218321 83218321 C T SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known missense c.1303 p.G435S 1.000 pfscan_RRM_dom pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 83 0 0 79 8 9.1954 BLM 0 genome.wustl.edu 37 15 91354482 91354482 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 91354482 91354482 G A SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.3922 p.G1308R 0.000 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 128 0 0 95 9 8.65385 CLEC16A 0 genome.wustl.edu 37 16 11154783 11154783 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 11154783 11154783 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2020 p.R674C 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 364 0 0 275 37 11.859 SSTR5 0 genome.wustl.edu 37 16 1129609 1129609 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 1129609 1129609 G A SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.741 p.T247 0.127 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 39 0 0 31 3 8.82353 RSL1D1 0 genome.wustl.edu 37 16 11933734 11933734 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 11933734 11933734 C T SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known missense c.964 p.A322T 0.000 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 442 0 0 334 51 13.2468 UNKL 0 genome.wustl.edu 37 16 1416248 1416248 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 1416248 1416248 T C SNP UNKL ENST00000389221 human ensembl 74_37 -1 known missense c.2036 p.Q679R 0.001 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 9 0 0 5 3 37.5 ABCC6 0 genome.wustl.edu 37 16 16244625 16244625 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 16244625 16244625 C A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.4213 p.G1405C 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_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 33 0 0 27 4 12.9032 SMG1 0 genome.wustl.edu 37 16 18853038 18853038 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 18853038 18853038 C T SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.6545 p.R2182H 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_PI3/4_kinase_cat_dom,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 SMG1 HGNC ENSG00000157106 404 1 0.246914 371 42 10.1695 TBL3 0 genome.wustl.edu 37 16 2026090 2026090 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 2026090 2026090 G T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.1163 p.G388V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 222 0 0 173 18 9.42408 PDILT 0 genome.wustl.edu 37 16 20373875 20373875 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 20373875 20373875 G A SNP PDILT ENST00000302451 human ensembl 74_37 -1 known silent c.1267 p.L423 0.024 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 131 0 0 122 13 9.62963 ERN2 0 genome.wustl.edu 37 16 23713786 23713786 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 23713786 23713786 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known nonsense c.1150 p.R384* 1.000 NULL pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 309 0 0 252 40 13.6986 ZKSCAN2 0 genome.wustl.edu 37 16 25258237 25258237 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 25258237 25258237 T C SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known missense c.1280 p.N427S 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 231 1 0.431034 232 23 9.01961 GTF3C1 0 genome.wustl.edu 37 16 27539961 27539961 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 27539961 27539961 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known nonsense c.931 p.Q311* 0.998 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 216 0 0 188 30 13.7615 KIAA0556 0 genome.wustl.edu 37 16 27751547 27751547 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 27751547 27751547 C A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known silent c.1929 p.T643 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 98 0 0 92 15 14.0187 TAOK2 0 genome.wustl.edu 37 16 29998312 29998312 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 29998312 29998312 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.2719 p.E907K 0.088 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 209 0 0 137 23 14.375 STX1B 0 genome.wustl.edu 37 16 31004510 31004510 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 31004510 31004510 C T SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.727 p.V243M 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 197 0 0 143 25 14.881 ZNF646 0 genome.wustl.edu 37 16 31091561 31091561 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 31091561 31091561 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3916 p.R1306W 0.846 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 31 0 0 21 4 16 ZNF200 0 genome.wustl.edu 37 16 3283691 3283691 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 3283691 3283691 G A SNP ZNF200 ENST00000414144 human ensembl 74_37 -1 known missense c.65 p.P22L 0.800 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 161 0 0 111 15 11.9048 SLX4 0 genome.wustl.edu 37 16 3632656 3632656 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 3632656 3632656 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.5192 p.A1731V 0.853 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 60 0 0 33 9 21.4286 SLX4 0 genome.wustl.edu 37 16 3633383 3633383 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 3633383 3633383 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.4868 p.A1623V 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 174 0 0 131 14 9.65517 TRAP1 0 genome.wustl.edu 37 16 3716054 3716054 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 3716054 3716054 G A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1301 p.A434V 0.992 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 119 0 0 87 29 25 CREBBP 0 genome.wustl.edu 37 16 3778795 3778795 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 3778795 3778795 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known nonsense c.6253 p.Q2085* 1.000 pfam_Nuc_rcpt_coact_CREBbp,superfamily_Nuc_rcpt_coact pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 190 0 0 185 42 18.5022 GPT2 0 genome.wustl.edu 37 16 46943745 46943745 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 46943745 46943745 G A SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known silent c.726 p.A242 0.977 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 170 0 0 112 19 14.5038 MGRN1 0 genome.wustl.edu 37 16 4723611 4723611 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 4723611 4723611 C T SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.908 p.A303V 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 125 1 0.793651 89 10 10.101 PPL 0 genome.wustl.edu 37 16 4947716 4947716 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 4947716 4947716 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.932 p.C311Y 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 47 0 0 39 7 15.2174 PAPD5 0 genome.wustl.edu 37 16 50256229 50256229 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 50256229 50256229 T A SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known missense c.1006 p.L336M 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 38 0 0 34 3 8.10811 ADCY7 0 genome.wustl.edu 37 16 50343556 50343556 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 50343556 50343556 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2159 p.P720L 0.936 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 48 0 0 30 11 26.8293 SEC14L5 0 genome.wustl.edu 37 16 5058571 5058571 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 5058571 5058571 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.1722 p.I574 0.111 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 114 0 0 91 11 10.7843 SALL1 0 genome.wustl.edu 37 16 51175243 51175243 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 51175243 51175243 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.890 p.A297V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 100 1 0.990099 72 25 25.7732 IRX3 0 genome.wustl.edu 37 16 54317653 54317653 + Splice_Site SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 54317653 54317653 C A SNP IRX3 ENST00000329734 human ensembl 74_37 -1 known splice_site c.1452-1 e4-1 1.000 - - - no_errors IRX3 HGNC ENSG00000177508 44 0 0 48 3 5.88235 IRX5 0 genome.wustl.edu 37 16 54967668 54967668 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 54967668 54967668 C T SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known silent c.1335 p.T445 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 134 0 0 103 9 8.03571 CCDC135 0 genome.wustl.edu 37 16 57760152 57760152 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 57760152 57760152 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1931 p.G644D 0.987 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 89 0 0 83 5 5.68182 CNGB1 0 genome.wustl.edu 37 16 57931415 57931415 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 57931415 57931415 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3128 p.T1043M 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 51 0 0 50 7 12.2807 PRSS54 0 genome.wustl.edu 37 16 58324876 58324876 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 58324876 58324876 C T SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.250 p.A84T 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 88 0 0 73 7 8.75 SETD6 0 genome.wustl.edu 37 16 58551980 58551980 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 58551980 58551980 A G SNP SETD6 ENST00000219315 human ensembl 74_37 +1 known missense c.818 p.Q273R 1.000 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 109 0 0 110 10 8.33333 CDH11 0 genome.wustl.edu 37 16 64981565 64981565 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 64981565 64981565 G T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.2332 p.R778S 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 208 0 0 196 19 8.83721 CDH16 0 genome.wustl.edu 37 16 66944197 66944197 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 66944197 66944197 C T SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known silent c.2133 p.T711 0.183 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 106 0 0 106 9 7.82609 SLC9A5 0 genome.wustl.edu 37 16 67289730 67289730 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 67289730 67289730 C T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.808 p.R270C 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 31 0 0 20 3 13.0435 FAM65A 0 genome.wustl.edu 37 16 67572574 67572574 + Splice_Site SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 67572574 67572574 G A SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known splice_site c.165-1 e3-1 1.000 - - - no_errors FAM65A HGNC ENSG00000039523 127 0 0 87 8 8.42105 CTCF 0 genome.wustl.edu 37 16 67650676 67650676 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 67650676 67650676 C T SNP CTCF ENST00000264010 human ensembl 74_37 +1 known silent c.981 p.C327 0.782 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 557 0 0 437 66 13.1213 SLC12A4 0 genome.wustl.edu 37 16 67988673 67988673 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 67988673 67988673 C A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.554 p.G185V 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 73 0 0 58 10 14.7059 CDH3 0 genome.wustl.edu 37 16 68716295 68716295 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 68716295 68716295 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.1087 p.R363C 0.885 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 66 0 0 48 5 9.43396 TANGO6 0 genome.wustl.edu 37 16 68901094 68901094 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 68901094 68901094 T C SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.965 p.V322A 1.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 309 0 0 247 21 7.83582 PDPR 0 genome.wustl.edu 37 16 70166126 70166126 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 70166126 70166126 A G SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.920 p.K307R 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 112 0 0 79 15 15.9574 FUK 0 genome.wustl.edu 37 16 70498985 70498985 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 70498985 70498985 G A SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.287 p.R96H 0.000 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 52 0 0 42 8 16 HYDIN 0 genome.wustl.edu 37 16 70891679 70891679 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 70891679 70891679 A G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.12224 p.L4075P 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 80 0 0 76 4 5 PHLPP2 0 genome.wustl.edu 37 16 71689152 71689152 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 71689152 71689152 A G SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.2576 p.V859A 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 211 0 0 185 26 12.3223 ZFHX3 0 genome.wustl.edu 37 16 72993577 72993577 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 72993577 72993577 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.468 p.A156 0.256 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 74 0 0 57 4 6.55738 WDR24 0 genome.wustl.edu 37 16 739557 739557 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 739557 739557 G A SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.270 p.P90 0.785 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 49 0 0 41 6 12.766 CHST6 0 genome.wustl.edu 37 16 75512962 75512962 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 75512962 75512962 G A SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known silent c.765 p.A255 0.046 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 62 0 0 45 6 11.7647 ADAT1 0 genome.wustl.edu 37 16 75646156 75646156 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 75646156 75646156 C A SNP ADAT1 ENST00000307921 human ensembl 74_37 -1 known missense c.1028 p.R343I 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 153 0 0 111 22 16.5414 METRN 0 genome.wustl.edu 37 16 766974 766974 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 766974 766974 G A SNP METRN ENST00000568223 human ensembl 74_37 +1 known missense c.547 p.A183T 0.164 NULL NULL - no_errors METRN HGNC ENSG00000103260 38 0 0 35 4 10.2564 ATMIN 0 genome.wustl.edu 37 16 81078031 81078031 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 81078031 81078031 C T SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.1928 p.S643L 0.975 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 120 0 0 100 14 12.2807 HSDL1 0 genome.wustl.edu 37 16 84163719 84163719 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 84163719 84163719 C T SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known missense c.538 p.A180T 0.218 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 260 1 0.383142 226 25 9.96016 ABAT 0 genome.wustl.edu 37 16 8862106 8862106 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 8862106 8862106 G A SNP ABAT ENST00000268251 human ensembl 74_37 +1 known silent c.660 p.R220 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 131 0 0 92 13 12.381 ABAT 0 genome.wustl.edu 37 16 8866730 8866730 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 8866730 8866730 G A SNP ABAT ENST00000268251 human ensembl 74_37 +1 known missense c.910 p.A304T 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 60 0 0 50 6 10.7143 ANKRD11 0 genome.wustl.edu 37 16 89348778 89348778 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 89348778 89348778 T G SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4172 p.Q1391P 0.991 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 290 1 0.343643 199 24 10.7623 SPG7 0 genome.wustl.edu 37 16 89620279 89620279 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 89620279 89620279 G A SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known missense c.2014 p.G672R 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 127 1 0.78125 108 17 13.6 FANCA 0 genome.wustl.edu 37 16 89849268 89849268 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 89849268 89849268 T G SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.1625 p.E542A 0.994 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 83 0 0 68 10 12.8205 SPIRE2 0 genome.wustl.edu 37 16 89921027 89921027 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 89921027 89921027 C T SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known missense c.859 p.R287W 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 103 0 0 74 12 13.9535 DBNDD1 0 genome.wustl.edu 37 16 90075836 90075836 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 90075836 90075836 T C SNP DBNDD1 ENST00000568838 human ensembl 74_37 -1 known missense c.394 p.I132V 0.452 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD1 HGNC ENSG00000003249 200 0 0 143 17 10.625 GRIN2A 0 genome.wustl.edu 37 16 9943686 9943686 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 9943686 9943686 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.1255 p.V419M 1.000 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 166 1 0.598802 126 16 11.2676 MYH4 0 genome.wustl.edu 37 17 10367791 10367791 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 10367791 10367791 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.646 p.Q216K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 84 0 0 56 12 17.6471 DNAH9 0 genome.wustl.edu 37 17 11593307 11593307 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 11593307 11593307 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.4168 p.M1390V 1.000 pfam_Dynein_heavy_dom-2 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 DNAH9 HGNC ENSG00000007174 38 0 0 32 6 15.7895 TOM1L2 0 genome.wustl.edu 37 17 17766051 17766051 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 17766051 17766051 C T SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known missense c.1196 p.R399H 0.994 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 410 2 0.485437 308 41 11.7479 TRIM16L 0 genome.wustl.edu 37 17 18630984 18630984 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 18630984 18630984 C T SNP TRIM16L ENST00000395902 human ensembl 74_37 +1 known silent c.276 p.H92 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors TRIM16L HGNC ENSG00000108448 139 0 0 117 12 9.30233 MAPK7 0 genome.wustl.edu 37 17 19286517 19286517 + Silent SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 19286517 19286517 T G SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known silent c.2424 p.A808 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK7 HGNC ENSG00000166484 64 0 0 60 4 6.25 SLC47A1 0 genome.wustl.edu 37 17 19480786 19480786 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 19480786 19480786 C T SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.1633 p.R545W 0.008 NULL pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 283 1 0.352113 212 21 9.01288 ALDH3A2 0 genome.wustl.edu 37 17 19568270 19568270 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 19568270 19568270 C T SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known missense c.1117 p.R373W 0.919 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 119 0 0 83 6 6.74157 CCDC144CP 0 genome.wustl.edu 37 17 20224751 20224751 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 20224751 20224751 C T SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC144CP HGNC ENSG00000154898 130 0 0 85 9 9.57447 LOC440416 0 genome.wustl.edu 37 17 20805602 20805602 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 20805602 20805602 C T SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 0.203 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 149 0 0 118 17 12.5926 USP22 0 genome.wustl.edu 37 17 20921424 20921424 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 20921424 20921424 C T SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.521 p.G174D 1.000 pfam_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 130 0 0 98 12 10.9091 PROCA1 0 genome.wustl.edu 37 17 27031536 27031536 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 27031536 27031536 C T SNP PROCA1 ENST00000473751 human ensembl 74_37 -1 known missense c.410 p.R137Q 0.000 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 66 0 0 53 10 15.873 FAM222B 0 genome.wustl.edu 37 17 27086766 27086766 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 27086766 27086766 G A SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known missense c.211 p.R71W 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 26 0 0 25 5 16.6667 ENSG00000214719 0 genome.wustl.edu 37 17 28935540 28935540 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 28935540 28935540 G A SNP ENSG00000214719 ENST00000398849 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 49 0 0 51 4 7.27273 TMEM132E 0 genome.wustl.edu 37 17 32964233 32964233 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 32964233 32964233 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.1937 p.G646D 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 192 1 0.518135 139 21 13.125 CCT6B 0 genome.wustl.edu 37 17 33266337 33266337 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 33266337 33266337 A G SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.1078 p.F360L 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 185 0 0 149 19 11.3095 LIG3 0 genome.wustl.edu 37 17 33325729 33325729 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 33325729 33325729 A G SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2096 p.Y699C 1.000 superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 159 0 0 147 20 11.976 SLFN11 0 genome.wustl.edu 37 17 33679963 33679963 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 33679963 33679963 C A SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.2118 p.Q706H 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 255 0 0 247 25 9.19118 AP2B1 0 genome.wustl.edu 37 17 33935348 33935348 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 33935348 33935348 T C SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.467 p.V156A 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 254 0 0 234 22 8.59375 HNF1B 0 genome.wustl.edu 37 17 36065026 36065026 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 36065026 36065026 C A SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known missense c.1237 p.V413F 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 76 0 0 75 10 11.7647 RPL19 0 genome.wustl.edu 37 17 37359334 37359334 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 37359334 37359334 C T SNP RPL19 ENST00000225430 human ensembl 74_37 +1 known missense c.328 p.R110C 1.000 pfam_Ribosomal_L19/L19e_dom,superfamily_Ribosomal_L19/L19e_dom pfam_Ribosomal_L19/L19e_dom,superfamily_Ribosomal_L19/L19e_dom - no_errors RPL19 HGNC ENSG00000108298 215 0 0 163 12 6.85714 MED1 0 genome.wustl.edu 37 17 37571384 37571384 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 37571384 37571384 A G SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.1394 p.V465A 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 449 0 0 376 58 13.3641 CDK12 0 genome.wustl.edu 37 17 37682159 37682159 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 37682159 37682159 C A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.3350 p.A1117E 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 102 0 0 102 8 7.27273 ZZEF1 0 genome.wustl.edu 37 17 3935533 3935533 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 3935533 3935533 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.6779 p.R2260H 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 141 0 0 127 18 12.4138 KRT16 0 genome.wustl.edu 37 17 39767703 39767703 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 39767703 39767703 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.665 p.G222D 0.875 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 117 0 0 86 6 6.52174 STAT5A 0 genome.wustl.edu 37 17 40441495 40441495 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 40441495 40441495 C T SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known silent c.66 p.Y22 0.468 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction 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,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 50 0 0 46 4 8 ATP6V0A1 0 genome.wustl.edu 37 17 40665982 40665982 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 40665982 40665982 G T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.2237 p.S746I 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 201 0 0 158 19 10.7345 FMNL1 0 genome.wustl.edu 37 17 43317920 43317920 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 43317920 43317920 G A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.1158 p.A386 0.044 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 85 0 0 66 10 13.1579 MYBBP1A 0 genome.wustl.edu 37 17 4446275 4446275 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 4446275 4446275 C T SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.2825 p.C942Y 0.000 superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 130 0 0 118 12 9.23077 ALOX15 0 genome.wustl.edu 37 17 4542894 4542894 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 4542894 4542894 A G SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known silent c.234 p.Y78 0.465 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom 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 30 0 0 31 3 8.82353 MRPL45P2 0 genome.wustl.edu 37 17 45534152 45534152 + RNA SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 45534152 45534152 G T SNP MRPL45P2 ENST00000425159 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors MRPL45P2 HGNC ENSG00000228782 50 0 0 35 4 10.2564 PRR15L 0 genome.wustl.edu 37 17 46030460 46030460 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 46030460 46030460 G T SNP PRR15L ENST00000300557 human ensembl 74_37 -1 known silent c.141 p.P47 0.059 NULL NULL - no_errors PRR15L HGNC ENSG00000167183 304 0 0 239 34 12.4542 SGCA 0 genome.wustl.edu 37 17 48246568 48246568 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 48246568 48246568 G A SNP SGCA ENST00000262018 human ensembl 74_37 +1 known missense c.700 p.D234N 0.987 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 88 0 0 71 12 14.4578 EME1 0 genome.wustl.edu 37 17 48452823 48452823 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 48452823 48452823 G A SNP EME1 ENST00000393271 human ensembl 74_37 +1 known missense c.254 p.S85N 1.000 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 170 0 0 142 14 8.97436 LRRC59 0 genome.wustl.edu 37 17 48470164 48470164 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 48470164 48470164 A T SNP LRRC59 ENST00000225972 human ensembl 74_37 -1 known missense c.260 p.L87H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC59 HGNC ENSG00000108829 152 0 0 149 14 8.58896 RSAD1 0 genome.wustl.edu 37 17 48557342 48557342 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 48557342 48557342 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.371 p.A124V 0.032 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 91 0 0 58 13 18.3099 CACNA1G 0 genome.wustl.edu 37 17 48650021 48650021 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 48650021 48650021 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.853 p.V285M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 26 0 0 13 6 31.5789 ABCC3 0 genome.wustl.edu 37 17 48736701 48736701 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 48736701 48736701 T C SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.778 p.W260R 0.993 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 114 0 0 79 10 11.236 CAMTA2 0 genome.wustl.edu 37 17 4880351 4880351 + Splice_Site SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 4880351 4880351 A G SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known splice_site c.1969+2 e11+2 1.000 - - - no_errors CAMTA2 HGNC ENSG00000108509 107 1 0.925926 80 10 11.1111 SLC52A1 0 genome.wustl.edu 37 17 4936856 4936856 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 4936856 4936856 G A SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known missense c.928 p.R310C 0.996 pfam_Endogenous_retrovirus_rcpt pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 94 0 0 90 14 13.4615 KIF2B 0 genome.wustl.edu 37 17 51901904 51901904 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 51901904 51901904 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1510 p.R504W 0.971 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_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 KIF2B HGNC ENSG00000141200 94 0 0 63 7 10 CUEDC1 0 genome.wustl.edu 37 17 55962691 55962691 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 55962691 55962691 C T SNP CUEDC1 ENST00000360238 human ensembl 74_37 -1 known missense c.235 p.A79T 1.000 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors CUEDC1 HGNC ENSG00000180891 93 0 0 84 13 13.4021 MPO 0 genome.wustl.edu 37 17 56350262 56350262 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 56350262 56350262 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.1735 p.L579F 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 297 0 0 205 67 24.6324 MPO 0 genome.wustl.edu 37 17 56352929 56352929 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 56352929 56352929 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.1435 p.R479W 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 77 0 0 64 12 15.7895 BZRAP1 0 genome.wustl.edu 37 17 56393891 56393891 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 56393891 56393891 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.1883 p.A628V 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 69 0 0 58 9 13.4328 TRIM37 0 genome.wustl.edu 37 17 57126583 57126583 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 57126583 57126583 C A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known nonsense c.1486 p.E496* 1.000 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 166 0 0 134 13 8.84354 TRIM37 0 genome.wustl.edu 37 17 57158518 57158518 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 57158518 57158518 A G SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known silent c.432 p.N144 0.695 smart_Bbox_C pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 235 0 0 177 16 8.29016 PRR11 0 genome.wustl.edu 37 17 57247159 57247159 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 57247159 57247159 G A SNP PRR11 ENST00000262293 human ensembl 74_37 +1 known missense c.46 p.E16K 0.504 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 136 0 0 83 10 10.7527 RPL12P38 0 genome.wustl.edu 37 17 58511501 58511501 + RNA SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 58511501 58511501 G T SNP RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RPL12P38 HGNC ENSG00000213228 42 0 0 29 6 17.1429 KCNH6 0 genome.wustl.edu 37 17 61622451 61622451 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 61622451 61622451 C T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.2517 p.R839 0.669 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 182 1 0.546448 152 8 5 CSH2 0 genome.wustl.edu 37 17 61949631 61949631 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 61949631 61949631 C T SNP CSH2 ENST00000392886 human ensembl 74_37 -1 known missense c.509 p.S170N 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH2 HGNC ENSG00000213218 289 0 0 222 31 12.253 SCN4A 0 genome.wustl.edu 37 17 62018729 62018729 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 62018729 62018729 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4913 p.S1638N 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 82 0 0 66 11 14.2857 TEKT1 0 genome.wustl.edu 37 17 6704118 6704118 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 6704118 6704118 C T SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known missense c.997 p.A333T 0.273 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 277 0 0 237 20 7.7821 OTOP2 0 genome.wustl.edu 37 17 72920768 72920768 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 72920768 72920768 C T SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.41 p.P14L 0.326 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 14 0 0 11 4 26.6667 OTOP3 0 genome.wustl.edu 37 17 72939797 72939797 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 72939797 72939797 C T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known silent c.783 p.G261 0.036 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 78 0 0 65 4 5.7971 FGF11 0 genome.wustl.edu 37 17 7345947 7345947 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 7345947 7345947 G A SNP FGF11 ENST00000293829 human ensembl 74_37 +1 known missense c.443 p.C148Y 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF11 HGNC ENSG00000161958 448 1 0.222717 264 67 20.2417 UNC13D 0 genome.wustl.edu 37 17 73831088 73831088 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 73831088 73831088 G T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known silent c.1905 p.T635 1.000 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 99 0 0 63 11 14.8649 EVPL 0 genome.wustl.edu 37 17 74004369 74004369 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 74004369 74004369 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.4917 p.S1639 0.006 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 45 0 0 42 5 10.6383 POLR2A 0 genome.wustl.edu 37 17 7405937 7405937 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 7405937 7405937 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known silent c.2673 p.Y891 0.740 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 119 0 0 71 21 22.8261 QRICH2 0 genome.wustl.edu 37 17 74300520 74300520 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 74300520 74300520 C T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known silent c.183 p.T61 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 50 0 0 42 4 8.69565 FXR2 0 genome.wustl.edu 37 17 7496382 7496382 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 7496382 7496382 C A SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1448 p.R483L 0.986 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 37 0 0 27 4 12.9032 TK1 0 genome.wustl.edu 37 17 76171657 76171657 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 76171657 76171657 C T SNP TK1 ENST00000588734 human ensembl 74_37 -1 known missense c.346 p.G116R 1.000 pfam_Thymidine_kinase,superfamily_P-loop_NTPase pfam_Thymidine_kinase,superfamily_P-loop_NTPase - no_errors TK1 HGNC ENSG00000167900 149 0 0 108 9 7.69231 USP36 0 genome.wustl.edu 37 17 76817075 76817075 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 76817075 76817075 G A SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.826 p.R276W 0.993 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 20 0 0 11 4 26.6667 USP36 0 genome.wustl.edu 37 17 76825020 76825020 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 76825020 76825020 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.545 p.G182D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 73 0 0 70 6 7.89474 CHMP6 0 genome.wustl.edu 37 17 78971093 78971093 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 78971093 78971093 T C SNP CHMP6 ENST00000325167 human ensembl 74_37 +1 known silent c.447 p.T149 0.978 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC ENSG00000176108 36 0 0 25 5 16.6667 OXLD1 0 genome.wustl.edu 37 17 79632179 79632179 + RNA SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 79632179 79632179 T C SNP OXLD1 ENST00000573786 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OXLD1 HGNC ENSG00000204237 73 0 0 47 7 12.963 ALOXE3 0 genome.wustl.edu 37 17 8012618 8012618 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 8012618 8012618 G A SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.1832 p.T611M 0.987 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_C - no_errors ALOXE3 HGNC ENSG00000179148 55 0 0 48 9 15.7895 FN3KRP 0 genome.wustl.edu 37 17 80684911 80684911 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 80684911 80684911 G A SNP FN3KRP ENST00000269373 human ensembl 74_37 +1 known missense c.794 p.G265D 0.593 pfam_Fructo-/Ketosamine-3-kinase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3KRP HGNC ENSG00000141560 191 1 0.520833 180 16 8.16327 GNAL 0 genome.wustl.edu 37 18 11753646 11753646 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 11753646 11753646 C T SNP GNAL ENST00000334049 human ensembl 74_37 +1 known silent c.469 p.L157 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GNAL HGNC ENSG00000141404 88 0 0 71 8 10.1266 RNMT 0 genome.wustl.edu 37 18 13741531 13741531 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 13741531 13741531 G A SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.815 p.R272H 0.774 pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 211 0 0 191 13 6.37255 MC5R 0 genome.wustl.edu 37 18 13826447 13826447 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 13826447 13826447 C T SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.683 p.A228V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 380 0 0 313 44 12.3249 ROCK1 0 genome.wustl.edu 37 18 18564452 18564452 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 18564452 18564452 C T SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known silent c.2349 p.R783 0.683 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 147 0 0 152 19 11.1111 NPC1 0 genome.wustl.edu 37 18 21131673 21131673 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 21131673 21131673 A G SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known silent c.1572 p.N524 0.964 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 298 0 0 219 34 13.4387 TRAPPC8 0 genome.wustl.edu 37 18 29429625 29429625 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 29429625 29429625 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known silent c.3639 p.H1213 0.647 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 154 0 0 157 12 7.10059 DTNA 0 genome.wustl.edu 37 18 32459614 32459614 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 32459614 32459614 C T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.2015 p.A672V 0.984 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 95 0 0 102 6 5.55556 MYL12A 0 genome.wustl.edu 37 18 3254035 3254035 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 3254035 3254035 T C SNP MYL12A ENST00000217652 human ensembl 74_37 +1 known silent c.330 p.D110 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL12A HGNC ENSG00000101608 147 0 0 131 20 13.245 ZNF396 0 genome.wustl.edu 37 18 32954226 32954226 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 32954226 32954226 G A SNP ZNF396 ENST00000589332 human ensembl 74_37 -1 known missense c.31 p.L11F 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF396 HGNC ENSG00000186496 174 0 0 110 26 19.1176 INO80C 0 genome.wustl.edu 37 18 33060460 33060460 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 33060460 33060460 T C SNP INO80C ENST00000441607 human ensembl 74_37 -1 known missense c.332 p.E111G 1.000 NULL pfam_YL1_C - no_errors INO80C HGNC ENSG00000153391 152 0 0 150 20 11.7647 MOCOS 0 genome.wustl.edu 37 18 33800026 33800026 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 33800026 33800026 G A SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.1806 p.R602 0.005 pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 114 0 0 90 14 13.4615 CELF4 0 genome.wustl.edu 37 18 35145328 35145328 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 35145328 35145328 T C SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.277 p.M93V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 167 0 0 132 7 5.03597 ST8SIA5 0 genome.wustl.edu 37 18 44260101 44260101 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 44260101 44260101 G A SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known silent c.1035 p.P345 0.010 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 145 1 0.684932 96 30 23.8095 ZBTB7C 0 genome.wustl.edu 37 18 45567233 45567233 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 45567233 45567233 A G SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known silent c.246 p.P82 0.937 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 81 0 0 70 4 5.40541 CTIF 0 genome.wustl.edu 37 18 46287807 46287807 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 46287807 46287807 A G SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1124 p.D375G 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 73 0 0 69 6 8 ME2 0 genome.wustl.edu 37 18 48473427 48473427 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 48473427 48473427 A G SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.1628 p.Y543C 1.000 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 377 0 0 298 45 13.1195 TCF4 0 genome.wustl.edu 37 18 52896116 52896116 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 52896116 52896116 G A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.2147 p.A716V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 89 0 0 83 13 13.5417 CDH20 0 genome.wustl.edu 37 18 59157872 59157872 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 59157872 59157872 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.86 p.T29M 0.009 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 182 0 0 185 16 7.9602 DOK6 0 genome.wustl.edu 37 18 67345077 67345077 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 67345077 67345077 C T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.397 p.R133W 1.000 smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 75 0 0 55 7 11.2903 LAMA1 0 genome.wustl.edu 37 18 6978296 6978296 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 6978296 6978296 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6089 p.A2030V 0.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 116 1 0.854701 88 19 17.757 PTPRM 0 genome.wustl.edu 37 18 8376108 8376108 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 8376108 8376108 T C SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3239 p.V1080A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 101 1 0.980392 78 13 14.2857 RALBP1 0 genome.wustl.edu 37 18 9517199 9517199 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 9517199 9517199 A G SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.601 p.T201A 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 54 0 0 45 8 15.0943 COL5A3 0 genome.wustl.edu 37 19 10090070 10090070 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 10090070 10090070 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.2736 p.P912 0.472 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 185 0 0 162 12 6.89655 KRI1 0 genome.wustl.edu 37 19 10665838 10665838 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 10665838 10665838 T C SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.1724 p.D575G 1.000 pfam_KRR1-interact_protein_1 pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 134 1 0.740741 73 6 7.59494 AP1M2 0 genome.wustl.edu 37 19 10692430 10692430 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 10692430 10692430 A G SNP AP1M2 ENST00000590923 human ensembl 74_37 -1 known missense c.392 p.L131P 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 50 0 0 43 6 12.2449 SMARCA4 0 genome.wustl.edu 37 19 11132513 11132513 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 11132513 11132513 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2729 p.T910M 0.999 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 48 0 0 41 7 14.5833 ZNF442 0 genome.wustl.edu 37 19 12461253 12461253 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 12461253 12461253 A G SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known silent c.1146 p.C382 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 470 0 0 387 42 9.79021 ZNF443 0 genome.wustl.edu 37 19 12541991 12541991 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 12541991 12541991 C G SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.995 p.S332T 0.034 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 ZNF443 HGNC ENSG00000180855 405 0 0 342 42 10.9375 ZNF443 0 genome.wustl.edu 37 19 12541999 12541999 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 12541999 12541999 G T SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known silent c.987 p.T329 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 394 0 0 332 46 12.1693 MAN2B1 0 genome.wustl.edu 37 19 12776537 12776537 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 12776537 12776537 A G SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.242 p.V81A 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 110 0 0 101 7 6.48148 DHPS 0 genome.wustl.edu 37 19 12792443 12792443 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 12792443 12792443 C T SNP DHPS ENST00000210060 human ensembl 74_37 -1 known silent c.138 p.L46 0.618 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 86 0 0 63 15 19.2308 TRMT1 0 genome.wustl.edu 37 19 13221080 13221080 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 13221080 13221080 T C SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.911 p.N304S 1.000 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 25 0 0 15 4 21.0526 NACC1 0 genome.wustl.edu 37 19 13246330 13246330 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 13246330 13246330 G T SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known silent c.309 p.T103 0.460 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 44 0 0 35 6 14.6341 BRD4 0 genome.wustl.edu 37 19 15350213 15350213 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 15350213 15350213 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.3566 p.A1189V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 146 0 0 95 14 12.844 CYP4F11 0 genome.wustl.edu 37 19 16038108 16038108 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 16038108 16038108 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.439 p.H147Y 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 142 0 0 129 11 7.85714 TMEM38A 0 genome.wustl.edu 37 19 16790827 16790827 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 16790827 16790827 G A SNP TMEM38A ENST00000187762 human ensembl 74_37 +1 known missense c.157 p.A53T 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 54 0 0 48 5 9.43396 MYO9B 0 genome.wustl.edu 37 19 17311596 17311596 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 17311596 17311596 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.4521 p.N1507 0.929 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 114 0 0 74 6 7.5 ARRDC2 0 genome.wustl.edu 37 19 18121388 18121388 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 18121388 18121388 T C SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known silent c.1020 p.P340 0.685 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 144 0 0 119 17 12.5 IL12RB1 0 genome.wustl.edu 37 19 18187108 18187108 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 18187108 18187108 A G SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known silent c.579 p.T193 0.292 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 105 0 0 77 8 9.41176 IFI30 0 genome.wustl.edu 37 19 18286420 18286420 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 18286420 18286420 C T SNP IFI30 ENST00000407280 human ensembl 74_37 +1 known silent c.396 p.C132 0.504 pfam_Interferon-induced_GILT pfam_Interferon-induced_GILT - no_errors IFI30 HGNC ENSG00000216490 13 0 0 10 2 16.6667 DDX49 0 genome.wustl.edu 37 19 19033456 19033456 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 19033456 19033456 C T SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.679 p.P227S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 84 0 0 56 11 16.4179 RFXANK 0 genome.wustl.edu 37 19 19310005 19310005 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 19310005 19310005 C T SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.674 p.T225I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 160 0 0 125 9 6.71642 ATP13A1 0 genome.wustl.edu 37 19 19767912 19767912 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 19767912 19767912 C A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.797 p.S266I 1.000 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 12 0 0 17 2 10.5263 ZNF626 0 genome.wustl.edu 37 19 20829108 20829108 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 20829108 20829108 T C SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.107 p.N36S 0.884 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 ZNF626 HGNC ENSG00000188171 216 1 0.460829 171 23 11.8557 AP3D1 0 genome.wustl.edu 37 19 2110727 2110727 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 2110727 2110727 C T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.3154 p.V1052M 1.000 pfam_BLV_receptor pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 14 0 0 11 2 15.3846 AP3D1 0 genome.wustl.edu 37 19 2118661 2118661 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 2118661 2118661 T G SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.1652 p.Q551P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 57 0 0 45 8 15.0943 ZNF257 0 genome.wustl.edu 37 19 22271691 22271691 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 22271691 22271691 C A SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.1139 p.A380D 0.814 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 ZNF257 HGNC ENSG00000197134 61 0 0 45 11 19.6429 ZNF730 0 genome.wustl.edu 37 19 23328678 23328678 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 23328678 23328678 C A SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.832 p.H278N 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 ZNF730 HGNC ENSG00000183850 44 0 0 45 5 10 ZNF91 0 genome.wustl.edu 37 19 23545334 23545334 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 23545334 23545334 G T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.447 p.A149 0.008 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 ZNF91 HGNC ENSG00000167232 251 0 0 195 13 6.25 ZNF91 0 genome.wustl.edu 37 19 23557475 23557475 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 23557475 23557475 A C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.122 p.V41G 0.656 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 ZNF91 HGNC ENSG00000167232 179 0 0 139 28 16.7665 ZNF681 0 genome.wustl.edu 37 19 23938230 23938230 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 23938230 23938230 A C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.127 p.L43V 0.927 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 ZNF681 HGNC ENSG00000196172 238 0 0 154 49 24.1379 TLE6 0 genome.wustl.edu 37 19 2989687 2989687 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 2989687 2989687 A G SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known missense c.1148 p.Q383R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 109 0 0 74 8 9.7561 TLE6 0 genome.wustl.edu 37 19 2991983 2991983 + Splice_Site SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 2991983 2991983 G A SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known splice_site c.1386+1 e13+1 1.000 - - - no_errors TLE6 HGNC ENSG00000104953 105 0 0 87 11 11.2245 TSHZ3 0 genome.wustl.edu 37 19 31768228 31768228 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 31768228 31768228 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.2471 p.T824M 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 159 0 0 104 41 28.2759 FZR1 0 genome.wustl.edu 37 19 3526341 3526341 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 3526341 3526341 G A SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.344 p.R115H 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 16 0 0 11 2 15.3846 MAG 0 genome.wustl.edu 37 19 35786830 35786830 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 35786830 35786830 C A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.361 p.L121M 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 284 1 0.350877 203 51 20.0787 SIPA1L3 0 genome.wustl.edu 37 19 38572756 38572756 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 38572756 38572756 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.551 p.A184V 0.001 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 44 0 0 39 6 13.3333 SUPT5H 0 genome.wustl.edu 37 19 39949688 39949688 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 39949688 39949688 T C SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.433 p.Y145H 1.000 pfam_Spt5_N,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 169 0 0 129 11 7.85714 SPTBN4 0 genome.wustl.edu 37 19 41063263 41063263 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 41063263 41063263 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.5624 p.R1875Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 105 0 0 50 29 36.7089 ADCK4 0 genome.wustl.edu 37 19 41198161 41198161 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 41198161 41198161 C T SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.1414 p.V472M 0.981 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 18 0 0 18 13 41.9355 SHC2 0 genome.wustl.edu 37 19 422188 422188 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 422188 422188 G A SNP SHC2 ENST00000264554 human ensembl 74_37 -1 known silent c.1578 p.A526 0.462 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 22 0 0 8 5 38.4615 ATP1A3 0 genome.wustl.edu 37 19 42492227 42492227 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 42492227 42492227 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.218 p.P73L 0.999 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,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 ATP1A3 HGNC ENSG00000105409 163 0 0 126 13 9.35252 MEGF8 0 genome.wustl.edu 37 19 42860571 42860571 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 42860571 42860571 G T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.4588 p.G1530C 1.000 superfamily_Gal_Oxase/kelch_b-propeller 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 18 0 0 12 2 14.2857 TEX101 0 genome.wustl.edu 37 19 43920324 43920324 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 43920324 43920324 G A SNP TEX101 ENST00000253435 human ensembl 74_37 +1 known nonsense c.192 p.W64* 1.000 NULL pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 85 0 0 89 7 7.29167 ZNF404 0 genome.wustl.edu 37 19 44377018 44377018 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 44377018 44377018 G A SNP ZNF404 ENST00000587539 human ensembl 74_37 -1 known missense c.1348 p.L450F 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 31 0 0 26 4 13.3333 UBXN6 0 genome.wustl.edu 37 19 4447552 4447552 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 4447552 4447552 A G SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.610 p.F204L 1.000 pfam_PUB_domain,smart_PUG-dom pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 185 0 0 140 11 7.28477 ZNF155 0 genome.wustl.edu 37 19 44495769 44495769 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 44495769 44495769 C T SNP ZNF155 ENST00000270014 human ensembl 74_37 +1 known nonsense c.85 p.Q29* 0.893 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 ZNF155 HGNC ENSG00000204920 273 1 0.364964 231 18 7.22892 RELB 0 genome.wustl.edu 37 19 45525310 45525310 + Splice_Site SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 45525310 45525310 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known splice_site c.505-1 e5-1 1.000 - - - no_errors RELB HGNC ENSG00000104856 34 0 0 29 3 9.375 MARK4 0 genome.wustl.edu 37 19 45797677 45797677 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 45797677 45797677 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.1565 p.R522H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 73 0 0 59 12 16.9014 PPP1R13L 0 genome.wustl.edu 37 19 45901550 45901550 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 45901550 45901550 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.27 p.A9 0.139 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 44 0 0 52 4 7.14286 RTN2 0 genome.wustl.edu 37 19 45997881 45997881 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 45997881 45997881 C A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known silent c.462 p.T154 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 175 0 0 100 26 20.6349 FBXO46 0 genome.wustl.edu 37 19 46216164 46216164 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 46216164 46216164 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.590 p.A197V 0.137 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 17 0 0 19 4 17.3913 PGLYRP1 0 genome.wustl.edu 37 19 46522784 46522784 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 46522784 46522784 C A SNP PGLYRP1 ENST00000008938 human ensembl 74_37 -1 known missense c.409 p.D137Y 0.925 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC ENSG00000008438 100 0 0 85 10 10.5263 CA11 0 genome.wustl.edu 37 19 49142853 49142853 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 49142853 49142853 A T SNP CA11 ENST00000084798 human ensembl 74_37 -1 known missense c.593 p.L198H 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 68 0 0 48 13 21.3115 PPFIA3 0 genome.wustl.edu 37 19 49643262 49643262 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 49643262 49643262 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.2285 p.S762N 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 209 1 0.47619 112 40 26.3158 TEAD2 0 genome.wustl.edu 37 19 49863248 49863248 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 49863248 49863248 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.85 p.G29S 0.990 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 70 0 0 46 6 11.5385 SIGLEC16 0 genome.wustl.edu 37 19 50475158 50475158 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 50475158 50475158 G A SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors SIGLEC16 HGNC ENSG00000161643 52 0 0 36 8 18.1818 MYH14 0 genome.wustl.edu 37 19 50720986 50720986 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 50720986 50720986 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.520 p.V174M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 123 0 0 115 12 9.44882 POLD1 0 genome.wustl.edu 37 19 50918172 50918172 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 50918172 50918172 A G SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.2489 p.E830G 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 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,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 53 0 0 40 4 9.09091 LRRC4B 0 genome.wustl.edu 37 19 51022368 51022368 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 51022368 51022368 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.602 p.A201V 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 42 0 0 23 11 32.3529 C19orf48 0 genome.wustl.edu 37 19 51301392 51301392 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 51301392 51301392 A G SNP C19orf48 ENST00000345523 human ensembl 74_37 -1 known missense c.314 p.V105A 0.000 NULL NULL - no_errors C19orf48 HGNC ENSG00000167747 250 2 0.793651 163 19 10.4396 SIGLEC8 0 genome.wustl.edu 37 19 51958778 51958778 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 51958778 51958778 C A SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known silent c.945 p.L315 0.006 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 51 0 0 37 14 27.451 ZNF614 0 genome.wustl.edu 37 19 52519952 52519952 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 52519952 52519952 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.899 p.R300H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 349 0 0 286 41 12.5382 ZNF528 0 genome.wustl.edu 37 19 52919773 52919773 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 52919773 52919773 A C SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.1668 p.K556N 0.040 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 ZNF528 HGNC ENSG00000167555 158 0 0 117 30 20.4082 ZNF761 0 genome.wustl.edu 37 19 53959611 53959611 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 53959611 53959611 G A SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ENSG00000160336 256 0 0 212 28 11.6667 LILRA1 0 genome.wustl.edu 37 19 55106591 55106591 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 55106591 55106591 G C SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.385 p.A129P 0.830 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 LILRA1 HGNC ENSG00000104974 183 0 0 134 21 13.5484 NCR1 0 genome.wustl.edu 37 19 55420813 55420813 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 55420813 55420813 C T SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known nonsense c.565 p.R189* 0.290 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 155 0 0 80 21 20.7921 GP6 0 genome.wustl.edu 37 19 55530062 55530062 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 55530062 55530062 C T SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.682 p.A228T 0.004 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 205 0 0 123 31 20.1299 ISOC2 0 genome.wustl.edu 37 19 55966630 55966630 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 55966630 55966630 C T SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known missense c.464 p.R155H 1.000 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 18 0 0 15 3 16.6667 ZNF524 0 genome.wustl.edu 37 19 56114077 56114077 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 56114077 56114077 G A SNP ZNF524 ENST00000301073 human ensembl 74_37 +1 known missense c.599 p.C200Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 32 0 0 20 8 28.5714 ZNF784 0 genome.wustl.edu 37 19 56133447 56133447 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 56133447 56133447 G A SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known silent c.642 p.H214 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 14 0 0 6 6 50 ZNF787 0 genome.wustl.edu 37 19 56600295 56600295 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 56600295 56600295 C T SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known silent c.246 p.T82 0.948 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 15 0 0 9 4 30.7692 ZSCAN5A 0 genome.wustl.edu 37 19 56733195 56733195 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 56733195 56733195 A G SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known missense c.1240 p.C414R 0.370 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 72 0 0 60 7 10.4478 ZNF71 0 genome.wustl.edu 37 19 57133703 57133703 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 57133703 57133703 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1048 p.G350S 0.895 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 80 0 0 68 7 9.33333 DUXA 0 genome.wustl.edu 37 19 57669726 57669726 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 57669726 57669726 T G SNP DUXA ENST00000554048 human ensembl 74_37 -1 known missense c.408 p.K136N 0.264 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors DUXA HGNC ENSG00000258873 348 0 0 330 40 10.8108 ZNF606 0 genome.wustl.edu 37 19 58500078 58500078 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 58500078 58500078 G T SNP ZNF606 ENST00000550599 human ensembl 74_37 -1 known missense c.100 p.L34I 1.000 NULL NULL - no_errors ZNF606 HGNC ENSG00000166704 331 0 0 254 21 7.63636 ZSCAN18 0 genome.wustl.edu 37 19 58600183 58600183 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 58600183 58600183 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.593 p.A198V 0.000 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 125 0 0 65 25 27.7778 HCN2 0 genome.wustl.edu 37 19 608088 608088 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 608088 608088 T C SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1343 p.M448T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 97 0 0 61 10 14.0845 CLPP 0 genome.wustl.edu 37 19 6364536 6364536 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 6364536 6364536 C T SNP CLPP ENST00000245816 human ensembl 74_37 +1 known silent c.441 p.C147 0.999 pfam_ClpP/TepA,prints_ClpP pfam_ClpP/TepA,prints_ClpP - no_errors CLPP HGNC ENSG00000125656 31 0 0 18 3 14.2857 C3 0 genome.wustl.edu 37 19 6697473 6697473 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 6697473 6697473 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2678 p.S893L 1.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 94 0 0 85 16 15.8416 SH2D3A 0 genome.wustl.edu 37 19 6755214 6755214 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 6755214 6755214 C T SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known silent c.609 p.G203 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 222 0 0 176 23 11.5578 VAV1 0 genome.wustl.edu 37 19 6833612 6833612 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 6833612 6833612 C T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.1684 p.P562S 0.059 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 233 0 0 176 21 10.6599 EMR1 0 genome.wustl.edu 37 19 6926447 6926447 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 6926447 6926447 A G SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.2057 p.E686G 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 195 1 0.510204 125 17 11.9718 EMR1 0 genome.wustl.edu 37 19 6926611 6926611 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 6926611 6926611 C T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.2221 p.R741C 0.174 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,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 201 0 0 141 43 23.3696 INSR 0 genome.wustl.edu 37 19 7167978 7167978 + Splice_Site SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 7167978 7167978 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known splice_site c.1610+1 e7+1 1.000 - - - no_errors INSR HGNC ENSG00000171105 74 0 0 54 7 11.4754 XAB2 0 genome.wustl.edu 37 19 7685199 7685199 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 7685199 7685199 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.2228 p.S743L 0.993 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 58 0 0 53 7 11.6667 CLEC4M 0 genome.wustl.edu 37 19 7830088 7830088 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 7830088 7830088 G A SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.148 p.A50T 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 129 0 0 112 10 8.19672 FBN3 0 genome.wustl.edu 37 19 8190894 8190894 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 8190894 8190894 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.2613 p.N871 0.889 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 74 0 0 53 8 13.1148 KANK3 0 genome.wustl.edu 37 19 8389521 8389521 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 8389521 8389521 A G SNP KANK3 ENST00000593649 human ensembl 74_37 -1 known missense c.2276 p.L759P 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 104 0 0 55 7 11.2903 PRAM1 0 genome.wustl.edu 37 19 8555592 8555592 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 8555592 8555592 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1792 p.A598T 0.977 superfamily_SH3_domain superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 21 0 0 24 8 25 MUC16 0 genome.wustl.edu 37 19 9056251 9056251 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 9056251 9056251 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31195 p.T10399A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 382 0 0 312 49 13.5734 MUC16 0 genome.wustl.edu 37 19 9063262 9063262 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 9063262 9063262 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24184 p.G8062R 0.019 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 134 0 0 124 19 13.2867 MUC16 0 genome.wustl.edu 37 19 9070331 9070331 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 9070331 9070331 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.17115 p.A5705 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 109 0 0 114 13 10.2362 GRHL1 0 genome.wustl.edu 37 2 10101557 10101557 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 10101557 10101557 G A SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.661 p.V221I 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 125 0 0 121 17 12.3188 RPL31 0 genome.wustl.edu 37 2 101620636 101620636 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 101620636 101620636 G A SNP RPL31 ENST00000264258 human ensembl 74_37 +1 known missense c.124 p.A42T 0.997 pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom - no_errors RPL31 HGNC ENSG00000071082 95 0 0 65 10 13.3333 TMEM182 0 genome.wustl.edu 37 2 103414327 103414327 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 103414327 103414327 C T SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 162 0 0 128 17 11.7241 ODC1 0 genome.wustl.edu 37 2 10581771 10581771 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 10581771 10581771 G A SNP ODC1 ENST00000234111 human ensembl 74_37 -1 known missense c.1105 p.R369C 1.000 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 120 0 0 77 11 12.5 TGFBRAP1 0 genome.wustl.edu 37 2 105924566 105924566 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 105924566 105924566 C T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known missense c.193 p.A65T 0.995 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 41 0 0 40 6 13.0435 RGPD4 0 genome.wustl.edu 37 2 108455373 108455373 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 108455373 108455373 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.358 p.R120G 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 353 0 0 301 44 12.7536 GCC2 0 genome.wustl.edu 37 2 109086795 109086795 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 109086795 109086795 T C SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.1010 p.L337S 0.986 superfamily_tRNA-bd_arm pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 135 1 0.735294 133 17 11.3333 C2orf50 0 genome.wustl.edu 37 2 11284096 11284096 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 11284096 11284096 G A SNP C2orf50 ENST00000381585 human ensembl 74_37 +1 known silent c.348 p.S116 0.683 NULL NULL - no_errors C2orf50 HGNC ENSG00000150873 104 0 0 69 18 20.6897 CNTNAP5 0 genome.wustl.edu 37 2 125530547 125530547 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 125530547 125530547 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2702 p.S901L 0.014 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 199 0 0 170 15 8.10811 ZRANB3 0 genome.wustl.edu 37 2 135965210 135965210 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 135965210 135965210 A G SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.2803 p.F935L 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 415 0 0 353 52 12.8395 LCT 0 genome.wustl.edu 37 2 136547160 136547160 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 136547160 136547160 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.5544 p.H1848 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 87 0 0 53 5 8.62069 LCT 0 genome.wustl.edu 37 2 136567247 136567247 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 136567247 136567247 T C SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.2670 p.Q890 0.995 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 239 0 0 204 26 11.3043 LRP1B 0 genome.wustl.edu 37 2 141081540 141081540 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 141081540 141081540 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12436 p.G4146S 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 183 0 0 158 29 15.508 LRP1B 0 genome.wustl.edu 37 2 141291695 141291695 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 141291695 141291695 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.7657 p.R2553* 0.981 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 84 0 0 56 24 30 LRP1B 0 genome.wustl.edu 37 2 141356315 141356315 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 141356315 141356315 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7079 p.T2360I 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 137 0 0 127 18 12.4138 LRP1B 0 genome.wustl.edu 37 2 141526896 141526896 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 141526896 141526896 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5644 p.M1882V 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 87 0 0 90 6 6.25 TPO 0 genome.wustl.edu 37 2 1491722 1491722 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 1491722 1491722 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1727 p.A576V 1.000 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 137 0 0 108 19 14.9606 TPO 0 genome.wustl.edu 37 2 1544475 1544475 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 1544475 1544475 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2728 p.A910T 0.000 NULL 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 75 0 0 62 10 13.8889 GALNT5 0 genome.wustl.edu 37 2 158156134 158156134 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 158156134 158156134 G A SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.2072 p.G691D 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 103 0 0 93 15 13.8889 GCG 0 genome.wustl.edu 37 2 163003887 163003887 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 163003887 163003887 C A SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.230 p.W77L 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 351 0 0 344 44 11.3402 PXDN 0 genome.wustl.edu 37 2 1670060 1670060 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 1670060 1670060 T C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1217 p.D406G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 50 0 0 49 7 12.5 STK39 0 genome.wustl.edu 37 2 168997200 168997200 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 168997200 168997200 C T SNP STK39 ENST00000355999 human ensembl 74_37 -1 known missense c.697 p.V233I 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,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 89 0 0 76 5 6.17284 DFNB59 0 genome.wustl.edu 37 2 179320750 179320750 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179320750 179320750 G A SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known missense c.421 p.D141N 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 74 0 0 62 6 8.82353 TTN 0 genome.wustl.edu 37 2 179429562 179429562 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179429562 179429562 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.73593 p.D24531 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 82 0 0 78 17 17.8947 TTN 0 genome.wustl.edu 37 2 179434797 179434797 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179434797 179434797 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.68358 p.C22786 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 151 0 0 134 26 16.25 TTN 0 genome.wustl.edu 37 2 179442553 179442553 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179442553 179442553 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60896 p.Y20299C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 89 0 0 106 12 10.1695 TTN 0 genome.wustl.edu 37 2 179446303 179446303 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179446303 179446303 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58988 p.R19663H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 103 0 0 91 14 13.3333 TTN 0 genome.wustl.edu 37 2 179486698 179486698 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179486698 179486698 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.37247 p.G12416D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-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 55 0 0 48 6 11.1111 DNAJC10 0 genome.wustl.edu 37 2 183619751 183619751 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 183619751 183619751 A G SNP DNAJC10 ENST00000264065 human ensembl 74_37 +1 known missense c.1573 p.T525A 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 116 0 0 95 11 10.3774 NCKAP1 0 genome.wustl.edu 37 2 183821200 183821200 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 183821200 183821200 G A SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.2161 p.R721C 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 219 0 0 196 12 5.76923 ZNF804A 0 genome.wustl.edu 37 2 185798372 185798372 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 185798372 185798372 G C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.298 p.A100P 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 94 0 0 83 6 6.74157 FSIP2 0 genome.wustl.edu 37 2 186673435 186673435 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 186673435 186673435 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19669 p.D6557N 0.002 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 105 0 0 94 7 6.93069 CALCRL 0 genome.wustl.edu 37 2 188245466 188245466 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 188245466 188245466 A G SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.233 p.V78A 0.851 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt 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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 82 0 0 77 8 9.41176 OSGEPL1 0 genome.wustl.edu 37 2 190619912 190619912 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 190619912 190619912 T C SNP OSGEPL1 ENST00000264151 human ensembl 74_37 -1 known missense c.596 p.D199G 1.000 pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 91 0 0 72 4 5.26316 OSR1 0 genome.wustl.edu 37 2 19553341 19553341 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 19553341 19553341 C T SNP OSR1 ENST00000272223 human ensembl 74_37 -1 known missense c.226 p.V76M 0.979 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 40 0 0 33 11 25 OSR1 0 genome.wustl.edu 37 2 19553481 19553481 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 19553481 19553481 C T SNP OSR1 ENST00000272223 human ensembl 74_37 -1 known missense c.86 p.G29D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 28 0 0 24 6 20 HECW2 0 genome.wustl.edu 37 2 197084840 197084840 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 197084840 197084840 C A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.4331 p.R1444I 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 73 0 0 66 8 10.8108 SF3B1 0 genome.wustl.edu 37 2 198285757 198285757 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 198285757 198285757 T C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.296 p.E99G 1.000 NULL pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 305 0 0 281 42 13.0031 ORC2 0 genome.wustl.edu 37 2 201791550 201791550 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 201791550 201791550 G A SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known silent c.991 p.L331 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 221 0 0 186 30 13.8889 FZD7 0 genome.wustl.edu 37 2 202901061 202901061 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 202901061 202901061 T G SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.1691 p.L564R 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 68 0 0 45 10 18.1818 FAM117B 0 genome.wustl.edu 37 2 203560705 203560705 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 203560705 203560705 C T SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.703 p.R235W 1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 101 0 0 76 9 10.5882 PUM2 0 genome.wustl.edu 37 2 20511272 20511272 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 20511272 20511272 G A SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known silent c.501 p.A167 0.999 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 150 0 0 138 14 9.21053 PUM2 0 genome.wustl.edu 37 2 20511425 20511425 + Splice_Site SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 20511425 20511425 C A SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known splice_site c.349-1 e4-1 1.000 - - - no_errors PUM2 HGNC ENSG00000055917 92 0 0 78 12 13.3333 NRP2 0 genome.wustl.edu 37 2 206628415 206628415 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 206628415 206628415 C T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.2062 p.R688W 0.997 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 192 0 0 147 12 7.54717 METTL21A 0 genome.wustl.edu 37 2 208486553 208486553 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 208486553 208486553 A G SNP METTL21A ENST00000406927 human ensembl 74_37 -1 known missense c.236 p.V79A 1.000 pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 149 1 0.666667 128 12 8.57143 CRYGB 0 genome.wustl.edu 37 2 209007376 209007376 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 209007376 209007376 T C SNP CRYGB ENST00000260988 human ensembl 74_37 -1 known missense c.514 p.M172V 1.000 superfamily_G_crystallin-rel,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 200 0 0 158 23 12.7072 ERBB4 0 genome.wustl.edu 37 2 212289018 212289018 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 212289018 212289018 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2728 p.I910V 0.997 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_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 ERBB4 HGNC ENSG00000178568 81 0 0 84 6 6.66667 APOB 0 genome.wustl.edu 37 2 21234948 21234948 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 21234948 21234948 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.4792 p.L1598 0.027 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 164 0 0 126 17 11.8881 ERBB4 0 genome.wustl.edu 37 2 212568916 212568916 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 212568916 212568916 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1202 p.F401S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_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 ERBB4 HGNC ENSG00000178568 184 0 0 113 54 32.3353 IKZF2 0 genome.wustl.edu 37 2 213872278 213872278 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 213872278 213872278 C A SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known nonsense c.1387 p.G463* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 288 1 0.346021 326 22 6.32184 IKZF2 0 genome.wustl.edu 37 2 214012446 214012446 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 214012446 214012446 C T SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.125 p.S42N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 460 0 0 381 26 6.38821 TNS1 0 genome.wustl.edu 37 2 218712809 218712809 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 218712809 218712809 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2056 p.A686T 0.023 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 56 0 0 54 9 14.2857 GPBAR1 0 genome.wustl.edu 37 2 219127900 219127900 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 219127900 219127900 T C SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known silent c.453 p.P151 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 56 0 0 42 5 10.6383 ZNF142 0 genome.wustl.edu 37 2 219508771 219508771 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 219508771 219508771 C T SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.2468 p.R823Q 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 324 0 0 254 30 10.5634 CRYBA2 0 genome.wustl.edu 37 2 219855055 219855055 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 219855055 219855055 G A SNP CRYBA2 ENST00000295728 human ensembl 74_37 -1 known silent c.513 p.S171 0.179 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 109 0 0 79 10 11.236 KCNE4 0 genome.wustl.edu 37 2 223917619 223917619 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 223917619 223917619 G A SNP KCNE4 ENST00000281830 human ensembl 74_37 +1 known missense c.224 p.R75H 0.001 NULL pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 127 0 0 87 13 13 SPHKAP 0 genome.wustl.edu 37 2 228882136 228882136 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 228882136 228882136 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3434 p.E1145G 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 108 0 0 91 13 12.5 SP100 0 genome.wustl.edu 37 2 231314895 231314895 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 231314895 231314895 G A SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.745 p.E249K 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 163 0 0 137 16 10.4575 ITM2C 0 genome.wustl.edu 37 2 231742762 231742762 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 231742762 231742762 G A SNP ITM2C ENST00000326427 human ensembl 74_37 +1 known missense c.752 p.R251H 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ENSG00000135916 79 0 0 51 3 5.55556 EIF4E2 0 genome.wustl.edu 37 2 233429000 233429000 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 233429000 233429000 G T SNP EIF4E2 ENST00000258416 human ensembl 74_37 +1 known missense c.314 p.G105V 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E2 HGNC ENSG00000135930 24 0 0 12 2 14.2857 HJURP 0 genome.wustl.edu 37 2 234752914 234752914 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 234752914 234752914 C T SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.511 p.A171T 0.025 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 171 0 0 129 14 9.79021 ACKR3 0 genome.wustl.edu 37 2 237489793 237489793 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 237489793 237489793 G A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known missense c.685 p.A229T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 160 0 0 135 9 6.25 COL6A3 0 genome.wustl.edu 37 2 238285492 238285492 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 238285492 238285492 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2993 p.S998L 0.990 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 403 0 0 322 42 11.5385 UBE2F 0 genome.wustl.edu 37 2 238881799 238881799 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 238881799 238881799 C T SNP UBE2F ENST00000272930 human ensembl 74_37 +1 known missense c.50 p.S17F 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2F HGNC ENSG00000184182 133 0 0 108 14 11.4754 HDAC4 0 genome.wustl.edu 37 2 239988477 239988477 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 239988477 239988477 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2929 p.D977N 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 81 0 0 70 11 13.5802 HDLBP 0 genome.wustl.edu 37 2 242174570 242174570 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 242174570 242174570 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3110 p.R1037H 0.995 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 97 0 0 59 10 14.4928 OTOF 0 genome.wustl.edu 37 2 26683875 26683875 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 26683875 26683875 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5557 p.R1853W 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 59 0 0 49 4 7.54717 C2orf70 0 genome.wustl.edu 37 2 26798777 26798777 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 26798777 26798777 G A SNP C2orf70 ENST00000329615 human ensembl 74_37 +1 known missense c.82 p.G28S 0.990 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors C2orf70 HGNC ENSG00000173557 55 0 0 56 5 8.19672 CAD 0 genome.wustl.edu 37 2 27461031 27461031 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 27461031 27461031 A G SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.4836 p.I1612M 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 48 0 0 49 6 10.9091 CAPN13 0 genome.wustl.edu 37 2 30959392 30959392 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 30959392 30959392 A G SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.1699 p.W567R 0.823 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 89 0 0 67 10 12.987 SLC8A1 0 genome.wustl.edu 37 2 40656250 40656250 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 40656250 40656250 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1171 p.V391I 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 201 0 0 176 26 12.8713 EML4 0 genome.wustl.edu 37 2 42508059 42508059 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 42508059 42508059 A G SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.737 p.N246S 1.000 pfam_HELP pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 76 0 0 66 7 9.58904 PLEKHH2 0 genome.wustl.edu 37 2 43958648 43958648 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 43958648 43958648 C T SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known silent c.2850 p.H950 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 142 0 0 117 16 12.0301 PRKCE 0 genome.wustl.edu 37 2 46378253 46378253 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 46378253 46378253 C T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1805 p.A602V 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 36 0 0 41 7 14.5833 LHCGR 0 genome.wustl.edu 37 2 48925908 48925908 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 48925908 48925908 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.712 p.P238S 1.000 NULL pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 82 0 0 54 13 19.403 SPTBN1 0 genome.wustl.edu 37 2 54856269 54856269 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 54856269 54856269 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.1998 p.Y666 0.370 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 92 0 0 93 7 7 EFEMP1 0 genome.wustl.edu 37 2 56145129 56145129 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 56145129 56145129 T C SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.188 p.N63S 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 206 0 0 179 15 7.73196 EFEMP1 0 genome.wustl.edu 37 2 56149565 56149565 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 56149565 56149565 G A SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.11 p.A4V 0.037 NULL pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 207 0 0 171 22 11.399 VRK2 0 genome.wustl.edu 37 2 58386659 58386659 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 58386659 58386659 A G SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.1358 p.Y453C 0.000 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 VRK2 HGNC ENSG00000028116 111 0 0 125 12 8.75912 BCL11A 0 genome.wustl.edu 37 2 60687881 60687881 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 60687881 60687881 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.2166 p.T722 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 105 0 0 104 12 10.3448 REL 0 genome.wustl.edu 37 2 61144153 61144153 + Splice_Site SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 61144153 61144153 G A SNP REL ENST00000295025 human ensembl 74_37 +1 known splice_site c.535+1 e5+1 1.000 - - - no_errors REL HGNC ENSG00000162924 195 1 0.510204 156 9 5.45455 USP34 0 genome.wustl.edu 37 2 61607348 61607348 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 61607348 61607348 A G SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.970 p.S324P 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 105 0 0 78 12 13.3333 MCEE 0 genome.wustl.edu 37 2 71337204 71337204 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 71337204 71337204 G A SNP MCEE ENST00000244217 human ensembl 74_37 -1 known missense c.427 p.R143C 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 100 0 0 72 15 17.2414 DYSF 0 genome.wustl.edu 37 2 71883367 71883367 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 71883367 71883367 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4678 p.R1560W 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 592 0 0 455 59 11.4786 CCT7 0 genome.wustl.edu 37 2 73477494 73477494 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 73477494 73477494 C T SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.1131 p.G377 0.167 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 212 1 0.469484 145 14 8.80503 FBXO41 0 genome.wustl.edu 37 2 73493774 73493774 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 73493774 73493774 C T SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known silent c.1125 p.T375 0.886 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 42 0 0 26 8 23.5294 ALMS1 0 genome.wustl.edu 37 2 73680416 73680416 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 73680416 73680416 T C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.6759 p.N2253 0.025 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 121 0 0 94 7 6.93069 ST3GAL5 0 genome.wustl.edu 37 2 86067345 86067345 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 86067345 86067345 C T SNP ST3GAL5 ENST00000377332 human ensembl 74_37 -1 known silent c.1179 p.T393 0.362 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 198 1 0.502513 144 48 25 POLR1A 0 genome.wustl.edu 37 2 86279961 86279961 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 86279961 86279961 G T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.2371 p.L791I 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 67 0 0 53 4 7.01754 CHMP3 0 genome.wustl.edu 37 2 86733008 86733008 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 86733008 86733008 C T SNP CHMP3 ENST00000439940 human ensembl 74_37 -1 known silent c.675 p.A225 0.000 NULL pfam_Snf7 - no_errors CHMP3 HGNC ENSG00000115561 88 0 0 71 12 14.4578 SMYD1 0 genome.wustl.edu 37 2 88409944 88409944 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 88409944 88409944 C T SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known silent c.1386 p.R462 0.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 32 0 0 17 3 15 EIF2AK3 0 genome.wustl.edu 37 2 88870468 88870468 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 88870468 88870468 G A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.2909 p.T970M 0.005 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_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 215 0 0 203 20 8.96861 MBOAT2 0 genome.wustl.edu 37 2 9017244 9017244 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 9017244 9017244 A G SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known silent c.606 p.I202 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 168 0 0 134 20 12.987 ASAP2 0 genome.wustl.edu 37 2 9541417 9541417 + Silent SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 9541417 9541417 T A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.2838 p.P946 0.993 superfamily_SH3_domain,pfscan_SH3_domain pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,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 - no_errors ASAP2 HGNC ENSG00000151693 106 0 0 63 23 26.7442 CNNM3 0 genome.wustl.edu 37 2 97483049 97483049 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 97483049 97483049 C A SNP CNNM3 ENST00000305510 human ensembl 74_37 +1 known silent c.1035 p.G345 1.000 NULL pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 67 0 0 50 3 5.66038 INPP4A 0 genome.wustl.edu 37 2 99203982 99203982 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 99203982 99203982 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.2845 p.R949C 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 77 0 0 71 8 10.1266 ANKEF1 0 genome.wustl.edu 37 20 10019036 10019036 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 10019036 10019036 G T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.87 p.E29D 0.997 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 181 0 0 134 14 9.45946 SEL1L2 0 genome.wustl.edu 37 20 13846098 13846098 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 13846098 13846098 G T SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.1467 p.A489 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 161 0 0 151 22 12.7168 MACROD2 0 genome.wustl.edu 37 20 15210620 15210620 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 15210620 15210620 C T SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known silent c.453 p.G151 0.223 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 108 0 0 89 11 11 SIRPA 0 genome.wustl.edu 37 20 1902288 1902288 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 1902288 1902288 C T SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known silent c.684 p.C228 0.978 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 97 0 0 57 15 20.8333 CRNKL1 0 genome.wustl.edu 37 20 20017972 20017972 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 20017972 20017972 C T SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.2374 p.D792N 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 452 0 0 434 26 5.65217 CST8 0 genome.wustl.edu 37 20 23473695 23473695 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 23473695 23473695 C A SNP CST8 ENST00000246012 human ensembl 74_37 +1 known missense c.332 p.S111Y 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 194 0 0 160 18 10.1124 CST9L 0 genome.wustl.edu 37 20 23548877 23548877 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 23548877 23548877 C A SNP CST9L ENST00000376979 human ensembl 74_37 -1 known missense c.211 p.G71W 0.021 pfam_Prot_inh_cystat pfam_Prot_inh_cystat - no_errors CST9L HGNC ENSG00000101435 95 0 0 58 10 14.7059 PYGB 0 genome.wustl.edu 37 20 25261593 25261593 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 25261593 25261593 C T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.1248 p.A416 0.485 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 137 0 0 126 12 8.69565 PYGB 0 genome.wustl.edu 37 20 25274898 25274898 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 25274898 25274898 A G SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.2282 p.D761G 0.969 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 113 0 0 79 11 12.2222 SLC4A11 0 genome.wustl.edu 37 20 3210170 3210170 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 3210170 3210170 C A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.1871 p.S624I 1.000 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 66 0 0 43 4 8.51064 ZNF341 0 genome.wustl.edu 37 20 32354675 32354675 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 32354675 32354675 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.1241 p.P414L 0.047 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 262 0 0 229 25 9.84252 GDF5 0 genome.wustl.edu 37 20 34022311 34022311 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 34022311 34022311 C T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.902 p.R301Q 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 32 0 0 22 5 18.5185 SLA2 0 genome.wustl.edu 37 20 35269703 35269703 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 35269703 35269703 T C SNP SLA2 ENST00000262866 human ensembl 74_37 -1 known silent c.36 p.P12 0.458 superfamily_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA2 HGNC ENSG00000101082 216 0 0 160 23 12.5683 TGM2 0 genome.wustl.edu 37 20 36789944 36789944 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 36789944 36789944 G A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.68 p.T23M 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 126 0 0 110 7 5.98291 PLCG1 0 genome.wustl.edu 37 20 39794919 39794919 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 39794919 39794919 T G SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1885 p.F629V 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 141 0 0 113 12 9.6 SRSF6 0 genome.wustl.edu 37 20 42089677 42089677 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 42089677 42089677 A G SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known missense c.1009 p.R337G 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 170 0 0 123 15 10.8696 UBE2C 0 genome.wustl.edu 37 20 44444242 44444242 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 44444242 44444242 G A SNP UBE2C ENST00000356455 human ensembl 74_37 +1 known silent c.279 p.A93 0.066 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2C HGNC ENSG00000175063 176 1 0.564972 146 42 22.3404 ZSWIM3 0 genome.wustl.edu 37 20 44505382 44505382 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 44505382 44505382 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.185 p.R62Q 1.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 136 1 0.729927 97 14 12.6126 MMP9 0 genome.wustl.edu 37 20 44639177 44639177 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 44639177 44639177 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.427 p.R143C 0.959 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 67 0 0 41 8 16.3265 ZNFX1 0 genome.wustl.edu 37 20 47872372 47872372 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 47872372 47872372 T C SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.2777 p.D926G 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 97 0 0 72 5 6.49351 KCNB1 0 genome.wustl.edu 37 20 48098562 48098562 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 48098562 48098562 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.456 p.A152 0.479 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 160 0 0 119 49 29.1667 FAM65C 0 genome.wustl.edu 37 20 49225219 49225219 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 49225219 49225219 A G SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.741 p.D247 0.826 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 177 0 0 124 20 13.8889 AURKA 0 genome.wustl.edu 37 20 54961381 54961381 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 54961381 54961381 A T SNP AURKA ENST00000312783 human ensembl 74_37 -1 known missense c.251 p.V84E 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKA HGNC ENSG00000087586 258 0 0 201 27 11.8421 CSTF1 0 genome.wustl.edu 37 20 54978709 54978709 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 54978709 54978709 A G SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.1222 p.T408A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 150 0 0 118 11 8.52713 CTCFL 0 genome.wustl.edu 37 20 56089762 56089762 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 56089762 56089762 G A SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1216 p.R406C 0.975 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 218 0 0 167 26 13.4715 NPEPL1 0 genome.wustl.edu 37 20 57290352 57290352 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 57290352 57290352 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known silent c.1542 p.G514 0.993 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 31 0 0 22 7 24.1379 TUBB1 0 genome.wustl.edu 37 20 57599037 57599037 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 57599037 57599037 G A SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known silent c.555 p.A185 0.101 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 228 0 0 173 15 7.97872 CHGB 0 genome.wustl.edu 37 20 5904061 5904061 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 5904061 5904061 G T SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.1271 p.G424V 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 162 0 0 91 17 15.7407 TRMT6 0 genome.wustl.edu 37 20 5922653 5922653 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 5922653 5922653 C T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known silent c.1056 p.E352 1.000 pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 366 0 0 312 44 12.3596 LAMA5 0 genome.wustl.edu 37 20 60887002 60887002 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 60887002 60887002 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.9609 p.Y3203 0.094 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 122 0 0 100 13 11.5044 CABLES2 0 genome.wustl.edu 37 20 60969279 60969279 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 60969279 60969279 G T SNP CABLES2 ENST00000279101 human ensembl 74_37 -1 known silent c.648 p.G216 0.744 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES2 HGNC ENSG00000149679 101 0 0 69 4 5.47945 SLCO4A1 0 genome.wustl.edu 37 20 61297923 61297923 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 61297923 61297923 G A SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.1468 p.G490R 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 155 1 0.641026 126 17 11.8881 ZBTB46 0 genome.wustl.edu 37 20 62421220 62421220 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 62421220 62421220 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.891 p.P297 0.002 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 173 0 0 114 12 9.52381 PLCB4 0 genome.wustl.edu 37 20 9368181 9368181 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 9368181 9368181 T C SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.1136 p.M379T 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 99 0 0 79 10 11.236 NRIP1 0 genome.wustl.edu 37 21 16339996 16339996 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 16339996 16339996 T G SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.518 p.K173T 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 119 0 0 127 10 7.29927 TMPRSS15 0 genome.wustl.edu 37 21 19647634 19647634 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 19647634 19647634 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.2784 p.L928 0.995 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 135 0 0 136 12 8.10811 KRTAP19-7 0 genome.wustl.edu 37 21 31933569 31933569 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 31933569 31933569 C T SNP KRTAP19-7 ENST00000334849 human ensembl 74_37 -1 known missense c.40 p.G14S 0.016 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-7 HGNC ENSG00000244362 138 1 0.719424 111 9 7.5 TIAM1 0 genome.wustl.edu 37 21 32638798 32638798 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 32638798 32638798 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.491 p.S164I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 166 0 0 119 20 14.3885 EVA1C 0 genome.wustl.edu 37 21 33887521 33887521 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 33887521 33887521 C T SNP EVA1C ENST00000485488 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EVA1C HGNC ENSG00000166979 153 0 0 108 15 12.1951 DNAJC28 0 genome.wustl.edu 37 21 34860883 34860883 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 34860883 34860883 G A SNP DNAJC28 ENST00000314399 human ensembl 74_37 -1 known missense c.818 p.A273V 0.002 pfam_DnaJ_homolog_subfam-C_membr-28 pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC28 HGNC ENSG00000177692 438 0 0 408 44 9.73451 DYRK1A 0 genome.wustl.edu 37 21 38853114 38853114 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 38853114 38853114 G T SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.502 p.G168C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 123 0 0 90 16 15.0943 KCNJ6 0 genome.wustl.edu 37 21 39086527 39086527 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 39086527 39086527 C T SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.933 p.M311I 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 247 0 0 187 27 12.6168 ZBTB21 0 genome.wustl.edu 37 21 43413728 43413728 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 43413728 43413728 T G SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.477 p.Q159H 0.029 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 303 1 0.328947 247 34 12.0996 WDR4 0 genome.wustl.edu 37 21 44283598 44283598 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 44283598 44283598 G A SNP WDR4 ENST00000330317 human ensembl 74_37 -1 known silent c.405 p.H135 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 117 0 0 80 13 13.9785 TRPM2 0 genome.wustl.edu 37 21 45825124 45825124 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 45825124 45825124 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.2638 p.V880M 0.114 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 71 0 0 65 15 18.75 UBE2G2 0 genome.wustl.edu 37 21 46193537 46193537 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 46193537 46193537 C T SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known missense c.310 p.E104K 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2G2 HGNC ENSG00000184787 74 0 0 55 6 9.83607 COL6A1 0 genome.wustl.edu 37 21 47423458 47423458 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 47423458 47423458 T C SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.2618 p.V873A 0.988 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 46 0 0 33 7 17.5 COL6A2 0 genome.wustl.edu 37 21 47544809 47544809 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 47544809 47544809 G C SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.1745 p.G582A 0.998 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 125 0 0 87 6 6.45161 COL6A2 0 genome.wustl.edu 37 21 47552253 47552253 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 47552253 47552253 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2847 p.D949 0.994 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 31 0 0 32 5 13.5135 LSS 0 genome.wustl.edu 37 21 47616150 47616150 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 47616150 47616150 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.1702 p.R568W 0.989 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 54 0 0 46 7 13.2075 SLC2A11 0 genome.wustl.edu 37 22 24224736 24224736 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 24224736 24224736 G T SNP SLC2A11 ENST00000398356 human ensembl 74_37 +1 known missense c.797 p.R266L 0.077 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A11 HGNC ENSG00000133460 17 0 0 14 3 17.6471 CABIN1 0 genome.wustl.edu 37 22 24462992 24462992 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 24462992 24462992 C G SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.2092 p.R698G 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 84 0 0 71 15 17.4419 GGT1 0 genome.wustl.edu 37 22 25023429 25023429 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 25023429 25023429 G A SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.1051 p.A351T 1.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 54 0 0 34 6 15 SEZ6L 0 genome.wustl.edu 37 22 26702070 26702070 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 26702070 26702070 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1474 p.H492Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 100 0 0 99 16 13.913 EWSR1 0 genome.wustl.edu 37 22 29693885 29693885 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 29693885 29693885 C T SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.1378 p.R460W 0.996 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 214 0 0 163 17 9.44444 NF2 0 genome.wustl.edu 37 22 30051659 30051659 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 30051659 30051659 G A SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.593 p.R198Q 0.994 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 120 0 0 98 8 7.54717 SEC14L4 0 genome.wustl.edu 37 22 30888485 30888485 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 30888485 30888485 G A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known missense c.640 p.R214C 0.944 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 75 0 0 40 11 21.5686 RNF185 0 genome.wustl.edu 37 22 31583100 31583100 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 31583100 31583100 C T SNP RNF185 ENST00000326132 human ensembl 74_37 +1 known missense c.20 p.S7L 0.986 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF185 HGNC ENSG00000138942 165 0 0 165 20 10.8108 SFI1 0 genome.wustl.edu 37 22 32009168 32009168 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 32009168 32009168 C G SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.2531 p.A844G 0.997 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 48 0 0 39 6 13.3333 SLC5A4 0 genome.wustl.edu 37 22 32651216 32651216 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 32651216 32651216 A G SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.101 p.I34T 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 332 1 0.3003 306 31 9.19881 FBXO7 0 genome.wustl.edu 37 22 32887092 32887092 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 32887092 32887092 A G SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known missense c.891 p.I297M 0.223 pfam_FP_dom pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 132 0 0 102 11 9.73451 APOL3 0 genome.wustl.edu 37 22 36541535 36541535 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 36541535 36541535 C T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known silent c.336 p.A112 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 103 0 0 101 8 7.33945 FOXRED2 0 genome.wustl.edu 37 22 36902213 36902213 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 36902213 36902213 G A SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.257 p.T86M 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 59 0 0 38 8 17.3913 GGA1 0 genome.wustl.edu 37 22 38021856 38021856 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 38021856 38021856 C T SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known silent c.993 p.G331 0.996 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 101 0 0 58 12 17.1429 EIF3L 0 genome.wustl.edu 37 22 38273988 38273988 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 38273988 38273988 G A SNP EIF3L ENST00000412331 human ensembl 74_37 +1 known missense c.1385 p.S462N 1.000 pfam_eIF3l pfam_eIF3l - no_errors EIF3L HGNC ENSG00000100129 161 0 0 111 14 11.2 CSNK1E 0 genome.wustl.edu 37 22 38696761 38696761 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 38696761 38696761 C T SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.533 p.R178H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1E HGNC ENSG00000213923 108 0 0 89 6 6.31579 APOBEC3F 0 genome.wustl.edu 37 22 39441119 39441119 + Silent SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 39441119 39441119 G C SNP APOBEC3F ENST00000308521 human ensembl 74_37 +1 known silent c.345 p.L115 0.231 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3F HGNC ENSG00000128394 96 0 0 95 8 7.76699 APOBEC3H 0 genome.wustl.edu 37 22 39496366 39496366 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 39496366 39496366 C T SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.83 p.A28V 0.002 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 132 0 0 98 11 10.0917 SYNGR1 0 genome.wustl.edu 37 22 39777832 39777832 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 39777832 39777832 G A SNP SYNGR1 ENST00000328933 human ensembl 74_37 +1 known silent c.615 p.P205 0.895 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR1 HGNC ENSG00000100321 37 0 0 22 4 15.3846 TAB1 0 genome.wustl.edu 37 22 39811581 39811581 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 39811581 39811581 C T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.247 p.R83W 0.999 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 83 0 0 64 7 9.85915 MCHR1 0 genome.wustl.edu 37 22 41075620 41075620 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 41075620 41075620 A G SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known silent c.171 p.S57 0.147 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 52 0 0 41 6 12.766 ACO2 0 genome.wustl.edu 37 22 41911931 41911931 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 41911931 41911931 G A SNP ACO2 ENST00000396512 human ensembl 74_37 +1 novel missense c.845 p.G282D 0.002 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba - no_errors ACO2 HGNC ENSG00000100412 31 0 0 22 7 24.1379 NAGA 0 genome.wustl.edu 37 22 42464549 42464549 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 42464549 42464549 G A SNP NAGA ENST00000396398 human ensembl 74_37 -1 known silent c.46 p.L16 0.875 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 125 0 0 106 17 13.8211 ARFGAP3 0 genome.wustl.edu 37 22 43213821 43213821 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 43213821 43213821 T G SNP ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known missense c.855 p.Q285H 0.094 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 202 0 0 169 13 7.14286 CELSR1 0 genome.wustl.edu 37 22 46929685 46929685 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 46929685 46929685 G T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3383 p.P1128Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 146 0 0 121 18 12.9496 BRD1 0 genome.wustl.edu 37 22 50217218 50217218 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 50217218 50217218 A G SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.748 p.Y250H 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,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 42 0 0 42 5 10.6383 ZBED4 0 genome.wustl.edu 37 22 50278514 50278514 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 50278514 50278514 A G SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.1204 p.N402D 0.000 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 155 0 0 122 12 8.95522 MLC1 0 genome.wustl.edu 37 22 50523301 50523301 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 50523301 50523301 C T SNP MLC1 ENST00000311597 human ensembl 74_37 -1 known missense c.31 p.A11T 0.996 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 74 0 0 61 5 7.57576 TUBGCP6 0 genome.wustl.edu 37 22 50656171 50656171 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 50656171 50656171 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.5454 p.D1818 0.284 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 35 0 0 35 3 7.89474 TUBGCP6 0 genome.wustl.edu 37 22 50656674 50656674 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 50656674 50656674 G A SNP TUBGCP6 ENST00000425018 human ensembl 74_37 -1 known nonsense c.1138 p.R380* 0.615 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 58 0 0 46 8 14.8148 HDAC10 0 genome.wustl.edu 37 22 50686566 50686566 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 50686566 50686566 C T SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1090 p.A364T 0.000 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 69 0 0 39 7 15.2174 CPT1B 0 genome.wustl.edu 37 22 51016265 51016265 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 51016265 51016265 G C SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.80 p.A27G 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 126 0 0 88 12 12 SHANK3 0 genome.wustl.edu 37 22 51117291 51117291 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 51117291 51117291 C T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.543 p.R181 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 24 0 0 16 3 15.7895 ZBTB11 0 genome.wustl.edu 37 3 101390079 101390079 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 101390079 101390079 A G SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.673 p.Y225H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 251 0 0 186 22 10.5769 FANCD2 0 genome.wustl.edu 37 3 10140588 10140588 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 10140588 10140588 A G SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.4370 p.Y1457C 0.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 291 0 0 257 25 8.86525 ALCAM 0 genome.wustl.edu 37 3 105258914 105258914 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 105258914 105258914 C T SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.826 p.P276S 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 261 1 0.381679 252 31 10.9541 CBLB 0 genome.wustl.edu 37 3 105400357 105400357 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 105400357 105400357 C T SNP CBLB ENST00000264122 human ensembl 74_37 -1 known silent c.2394 p.T798 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 119 1 0.833333 127 8 5.92593 DZIP3 0 genome.wustl.edu 37 3 108373083 108373083 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 108373083 108373083 G C SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.2125 p.V709L 0.025 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 177 0 0 196 15 7.109 WDR52 0 genome.wustl.edu 37 3 113099764 113099764 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 113099764 113099764 A G SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known silent c.2034 p.S678 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 208 0 0 182 13 6.66667 TMEM39A 0 genome.wustl.edu 37 3 119165887 119165887 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 119165887 119165887 T C SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known missense c.553 p.N185D 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 81 0 0 68 8 10.5263 STXBP5L 0 genome.wustl.edu 37 3 120957878 120957878 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 120957878 120957878 A G SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known silent c.1245 p.T415 0.966 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 119 0 0 99 9 8.33333 POLQ 0 genome.wustl.edu 37 3 121248490 121248490 + Splice_Site SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 121248490 121248490 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known splice_site c.1108+2 e7+2 1.000 - - - no_errors POLQ HGNC ENSG00000051341 266 0 0 258 28 9.79021 PARP14 0 genome.wustl.edu 37 3 122437467 122437467 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 122437467 122437467 A G SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.4469 p.H1490R 0.000 NULL 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 344 1 0.289855 303 36 10.6195 RUVBL1 0 genome.wustl.edu 37 3 127801405 127801405 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 127801405 127801405 G A SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.1132 p.R378C 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 94 0 0 63 9 12.5 COPG1 0 genome.wustl.edu 37 3 128990665 128990665 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 128990665 128990665 G A SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known silent c.1899 p.S633 0.446 pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 62 0 0 51 3 5.55556 IFT122 0 genome.wustl.edu 37 3 129185901 129185901 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 129185901 129185901 C T SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known silent c.885 p.D295 0.991 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 70 0 0 80 8 9.09091 ATP2C1 0 genome.wustl.edu 37 3 130716593 130716593 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 130716593 130716593 G A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.2489 p.R830H 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1 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_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 273 0 0 204 28 12.069 RAB6B 0 genome.wustl.edu 37 3 133560152 133560152 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 133560152 133560152 G A SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known missense c.266 p.A89V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6B HGNC ENSG00000154917 121 0 0 110 10 8.33333 NUP210 0 genome.wustl.edu 37 3 13399741 13399741 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 13399741 13399741 A T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.2309 p.L770Q 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 108 0 0 76 7 8.43373 EPHB1 0 genome.wustl.edu 37 3 134825395 134825395 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 134825395 134825395 G T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.911 p.R304L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 92 0 0 70 9 11.3924 PPP2R3A 0 genome.wustl.edu 37 3 135745935 135745935 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 135745935 135745935 G A SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.2257 p.A753T 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 61 0 0 49 10 16.9492 NMNAT3 0 genome.wustl.edu 37 3 139279978 139279978 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 139279978 139279978 T C SNP NMNAT3 ENST00000296202 human ensembl 74_37 -1 known silent c.633 p.Q211 0.313 tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT3 HGNC ENSG00000163864 205 0 0 279 16 5.42373 ZBTB38 0 genome.wustl.edu 37 3 141162737 141162737 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 141162737 141162737 A G SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1510 p.R504G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 172 0 0 202 47 18.8755 ATP1B3 0 genome.wustl.edu 37 3 141626115 141626115 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 141626115 141626115 A G SNP ATP1B3 ENST00000286371 human ensembl 74_37 +1 known silent c.345 p.K115 0.031 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B3 HGNC ENSG00000069849 107 0 0 141 17 10.7595 FGD5 0 genome.wustl.edu 37 3 14861657 14861657 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 14861657 14861657 A T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.1079 p.E360V 0.074 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 120 0 0 108 13 10.7438 FGD5 0 genome.wustl.edu 37 3 14967673 14967673 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 14967673 14967673 G T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.4165 p.G1389C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 137 0 0 95 6 5.94059 MED12L 0 genome.wustl.edu 37 3 151101884 151101884 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 151101884 151101884 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4699 p.T1567A 0.999 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 107 0 0 122 7 5.42636 IGSF10 0 genome.wustl.edu 37 3 151163001 151163001 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 151163001 151163001 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.4768 p.P1590S 0.006 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 254 0 0 353 20 5.36193 PLD1 0 genome.wustl.edu 37 3 171379864 171379864 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 171379864 171379864 A G SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2326 p.Y776H 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 89 0 0 106 10 8.62069 PLD1 0 genome.wustl.edu 37 3 171406484 171406484 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 171406484 171406484 C T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.1521 p.P507 0.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 118 0 0 160 11 6.43275 ECT2 0 genome.wustl.edu 37 3 172523602 172523602 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 172523602 172523602 A C SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.2095 p.I699L 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 115 0 0 159 17 9.65909 SPATA16 0 genome.wustl.edu 37 3 172634270 172634270 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 172634270 172634270 C T SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known missense c.1340 p.G447E 0.919 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 265 0 0 424 24 5.35714 NLGN1 0 genome.wustl.edu 37 3 173322455 173322455 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 173322455 173322455 C T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.67 p.R23W 0.596 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 207 0 0 292 50 14.6199 TBC1D5 0 genome.wustl.edu 37 3 17447931 17447931 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 17447931 17447931 C A SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.255 p.R85S 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 235 0 0 145 41 22.043 PIK3CA 0 genome.wustl.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 178916726 178916726 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.113 p.R38H 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_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 149 0 0 222 27 10.8434 MCF2L2 0 genome.wustl.edu 37 3 182933788 182933788 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 182933788 182933788 G A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.2465 p.A822V 0.426 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 188 0 0 244 20 7.57576 KLHL6 0 genome.wustl.edu 37 3 183226231 183226231 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 183226231 183226231 A G SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.525 p.V175 0.821 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 171 0 0 223 15 6.30252 YEATS2 0 genome.wustl.edu 37 3 183446626 183446626 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 183446626 183446626 C A SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.799 p.L267I 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 191 0 0 220 23 9.46502 PSMD2 0 genome.wustl.edu 37 3 184024258 184024258 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 184024258 184024258 C T SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.1925 p.A642V 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 113 0 0 135 10 6.89655 SATB1 0 genome.wustl.edu 37 3 18456690 18456690 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 18456690 18456690 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known nonsense c.552 p.W184* 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 146 0 0 137 17 11.039 C3orf70 0 genome.wustl.edu 37 3 184870603 184870603 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 184870603 184870603 C T SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known silent c.9 p.A3 1.000 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 29 0 0 33 3 8.33333 HRG 0 genome.wustl.edu 37 3 186395475 186395475 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 186395475 186395475 C T SNP HRG ENST00000232003 human ensembl 74_37 +1 known missense c.1381 p.L461F 1.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 113 0 0 170 10 5.55556 BCL6 0 genome.wustl.edu 37 3 187447537 187447537 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 187447537 187447537 G T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.656 p.P219H 0.997 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 60 0 0 67 4 5.6338 FGF12 0 genome.wustl.edu 37 3 192125831 192125831 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 192125831 192125831 G T SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.182 p.P61Q 0.998 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 238 0 0 287 17 5.59211 GP5 0 genome.wustl.edu 37 3 194118947 194118947 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 194118947 194118947 G A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.65 p.P22L 0.946 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 34 0 0 41 7 14.5833 XXYLT1 0 genome.wustl.edu 37 3 194790481 194790481 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 194790481 194790481 T C SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.1145 p.Y382C 1.000 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 168 0 0 195 19 8.8785 SDHAP1 0 genome.wustl.edu 37 3 195692343 195692343 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 195692343 195692343 C T SNP SDHAP1 ENST00000354559 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 19 0 0 30 3 9.09091 NRROS 0 genome.wustl.edu 37 3 196386848 196386848 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 196386848 196386848 C A SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.334 p.L112M 0.842 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 52 0 0 58 5 7.93651 BDH1 0 genome.wustl.edu 37 3 197238857 197238857 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 197238857 197238857 C T SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known missense c.941 p.R314H 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 196 0 0 203 38 15.7676 NEK10 0 genome.wustl.edu 37 3 27326096 27326096 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 27326096 27326096 C T SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known missense c.2011 p.V671I 0.963 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,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,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 139 0 0 130 10 7.14286 OSBPL10 0 genome.wustl.edu 37 3 31712295 31712295 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 31712295 31712295 A G SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.1907 p.V636A 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 214 0 0 195 22 10.1382 GOLGA4 0 genome.wustl.edu 37 3 37340400 37340400 + Silent SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 37340400 37340400 T G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known silent c.891 p.R297 0.162 superfamily_Prefoldin pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 175 0 0 163 13 7.38636 ITGA9 0 genome.wustl.edu 37 3 37574822 37574822 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 37574822 37574822 C T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.1391 p.T464M 0.998 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 98 0 0 72 7 8.86076 ACVR2B 0 genome.wustl.edu 37 3 38518872 38518872 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 38518872 38518872 C T SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known silent c.147 p.C49 1.000 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2B HGNC ENSG00000114739 68 0 0 58 9 13.4328 XIRP1 0 genome.wustl.edu 37 3 39230481 39230481 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 39230481 39230481 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.456 p.D152 0.199 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 120 0 0 79 13 14.1304 CHL1 0 genome.wustl.edu 37 3 402087 402087 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 402087 402087 A G SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1286 p.N429S 0.644 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 CHL1 HGNC ENSG00000134121 229 0 0 205 24 10.4803 CTNNB1 0 genome.wustl.edu 37 3 41275213 41275213 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 41275213 41275213 T C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1379 p.I460T 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 201 0 0 181 20 9.95025 NKTR 0 genome.wustl.edu 37 3 42679502 42679502 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 42679502 42679502 C T SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.2306 p.S769L 0.035 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 143 0 0 105 13 11.0169 LARS2 0 genome.wustl.edu 37 3 45530204 45530204 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 45530204 45530204 G A SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known missense c.1139 p.S380N 0.898 superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 131 0 0 112 12 9.67742 LARS2 0 genome.wustl.edu 37 3 45554714 45554714 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 45554714 45554714 A C SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known missense c.1848 p.E616D 0.059 tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 149 0 0 138 15 9.80392 ALS2CL 0 genome.wustl.edu 37 3 46712551 46712551 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 46712551 46712551 A C SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.2785 p.C929G 1.000 pfam_VPS9,pfscan_VPS9 pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 179 1 0.555556 152 12 7.31707 FBXW12 0 genome.wustl.edu 37 3 48423258 48423258 + Nonsense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 48423258 48423258 G T SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known nonsense c.1054 p.G352* 0.000 superfamily_Quino_amine_DH_bsu pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 153 0 0 162 25 13.369 PLXNB1 0 genome.wustl.edu 37 3 48454330 48454330 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 48454330 48454330 G T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4675 p.L1559M 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 105 0 0 80 10 11.1111 COL7A1 0 genome.wustl.edu 37 3 48614331 48614331 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 48614331 48614331 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.5590 p.A1864T 0.042 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 228 0 0 139 17 10.8974 SLC26A6 0 genome.wustl.edu 37 3 48667139 48667139 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 48667139 48667139 T C SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known missense c.1535 p.H512R 0.341 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 174 0 0 112 11 8.94309 CELSR3 0 genome.wustl.edu 37 3 48697746 48697746 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 48697746 48697746 A G SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.2322 p.S774 0.938 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 120 0 0 74 11 12.9412 IP6K2 0 genome.wustl.edu 37 3 48726074 48726074 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 48726074 48726074 C A SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known missense c.913 p.G305C 0.995 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 129 1 0.769231 94 13 12.1495 P4HTM 0 genome.wustl.edu 37 3 49044327 49044327 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 49044327 49044327 G A SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.1679 p.R560H 0.646 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 35 0 0 19 3 13.6364 MST1R 0 genome.wustl.edu 37 3 49934714 49934714 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 49934714 49934714 G A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.2182 p.R728W 0.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 135 0 0 102 12 10.5263 SEMA3F 0 genome.wustl.edu 37 3 50197137 50197137 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 50197137 50197137 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.82 p.A28T 0.986 superfamily_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 99 0 0 93 14 13.0841 NAT6 0 genome.wustl.edu 37 3 50334195 50334195 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 50334195 50334195 T C SNP NAT6 ENST00000354862 human ensembl 74_37 -1 known missense c.766 p.R256G 0.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT6 HGNC ENSG00000243477 106 0 0 81 12 12.9032 CACNA2D2 0 genome.wustl.edu 37 3 50403525 50403525 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 50403525 50403525 G A SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known missense c.2800 p.R934C 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 149 0 0 127 7 5.22388 VPRBP 0 genome.wustl.edu 37 3 51457723 51457723 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 51457723 51457723 G A SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known nonsense c.1354 p.R452* 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 122 0 0 102 18 15 IQCF2 0 genome.wustl.edu 37 3 51897123 51897123 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 51897123 51897123 C T SNP IQCF2 ENST00000333127 human ensembl 74_37 +1 known missense c.232 p.R78W 0.057 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC ENSG00000184345 105 0 0 98 13 11.7117 RRP9 0 genome.wustl.edu 37 3 51970287 51970287 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 51970287 51970287 G A SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known missense c.721 p.R241W 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 RRP9 HGNC ENSG00000114767 87 0 0 77 15 16.3043 LINC00696 0 genome.wustl.edu 37 3 52097310 52097310 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52097310 52097310 C T SNP LINC00696 ENST00000541313 human ensembl 74_37 -1 known silent c.258 p.A86 0.000 NULL NULL - no_errors LINC00696 HGNC ENSG00000256097 318 0 0 267 54 16.8224 WDR82 0 genome.wustl.edu 37 3 52295479 52295479 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52295479 52295479 T C SNP WDR82 ENST00000296490 human ensembl 74_37 -1 known missense c.343 p.M115V 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 WDR82 HGNC ENSG00000164091 86 0 0 63 11 14.8649 BAP1 0 genome.wustl.edu 37 3 52442054 52442054 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52442054 52442054 C T SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known missense c.295 p.V99M 1.000 pfam_Peptidase_C12,prints_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 36 0 0 34 3 8.10811 TNNC1 0 genome.wustl.edu 37 3 52485532 52485532 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52485532 52485532 C A SNP TNNC1 ENST00000232975 human ensembl 74_37 -1 known missense c.329 p.G110V 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors TNNC1 HGNC ENSG00000114854 76 0 0 74 7 8.64198 GLT8D1 0 genome.wustl.edu 37 3 52730292 52730292 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52730292 52730292 C T SNP GLT8D1 ENST00000266014 human ensembl 74_37 -1 known missense c.490 p.A164T 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 84 0 0 82 12 12.766 DCP1A 0 genome.wustl.edu 37 3 53326499 53326499 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 53326499 53326499 G A SNP DCP1A ENST00000607628 human ensembl 74_37 -1 known missense c.983 p.T328I 0.223 NULL pfam_DCP1 - no_errors DCP1A HGNC ENSG00000162290 80 0 0 66 5 7.04225 CCDC66 0 genome.wustl.edu 37 3 56653342 56653342 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 56653342 56653342 C A SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known missense c.2422 p.Q808K 1.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 93 0 0 71 7 8.97436 PTPRG 0 genome.wustl.edu 37 3 62254810 62254810 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 62254810 62254810 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.2975 p.R992H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 139 0 0 113 23 16.9118 PRICKLE2 0 genome.wustl.edu 37 3 64133333 64133333 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 64133333 64133333 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.833 p.A278V 1.000 pfam_Znf_LIM,smart_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 155 0 0 120 12 9.09091 ADAMTS9 0 genome.wustl.edu 37 3 64527080 64527080 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 64527080 64527080 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.5303 p.A1768V 1.000 pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 210 1 0.473934 160 15 8.57143 ARL6IP5 0 genome.wustl.edu 37 3 69153703 69153703 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 69153703 69153703 G A SNP ARL6IP5 ENST00000273258 human ensembl 74_37 +1 known silent c.483 p.P161 0.012 NULL pfam_Prenylated_rab_accept_PRA1 - no_errors ARL6IP5 HGNC ENSG00000144746 145 0 0 105 17 13.9344 CRELD1 0 genome.wustl.edu 37 3 9984784 9984784 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 9984784 9984784 T C SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.841 p.C281R 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_Furin_repeat,smart_EG-like_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 164 0 0 140 25 15.1515 ADH1A 0 genome.wustl.edu 37 4 100205628 100205628 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 100205628 100205628 C T SNP ADH1A ENST00000209668 human ensembl 74_37 -1 known silent c.495 p.S165 0.952 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 116 0 0 117 11 8.59375 TACR3 0 genome.wustl.edu 37 4 104640800 104640800 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 104640800 104640800 T C SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.33 p.I11M 0.000 prints_NK3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 52 0 0 37 14 27.451 GSTCD 0 genome.wustl.edu 37 4 106638749 106638749 + Splice_Site SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 106638749 106638749 G A SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.999 - - - no_errors GSTCD HGNC ENSG00000138780 89 0 0 89 8 8.24742 DKK2 0 genome.wustl.edu 37 4 107845346 107845346 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 107845346 107845346 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.545 p.P182L 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 106 0 0 124 14 10.1449 LRIT3 0 genome.wustl.edu 37 4 110789030 110789030 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 110789030 110789030 T C SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known missense c.823 p.C275R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 125 0 0 113 16 12.4031 ALPK1 0 genome.wustl.edu 37 4 113333128 113333128 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 113333128 113333128 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.422 p.T141M 0.118 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 64 0 0 45 6 11.7647 C4orf21 0 genome.wustl.edu 37 4 113462384 113462384 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 113462384 113462384 T C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.5639 p.H1880R 1.000 superfamily_P-loop_NTPase pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 40 0 0 38 4 9.52381 SEC24D 0 genome.wustl.edu 37 4 119665262 119665262 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 119665262 119665262 C T SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known missense c.1879 p.V627M 1.000 pfam_Sec23/24_trunk_dom 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 - no_errors SEC24D HGNC ENSG00000150961 58 0 0 50 15 23.0769 TNIP3 0 genome.wustl.edu 37 4 122078349 122078349 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 122078349 122078349 G A SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.263 p.T88M 0.000 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 514 1 0.194175 427 54 11.2266 TRPC3 0 genome.wustl.edu 37 4 122833134 122833134 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 122833134 122833134 T G SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.1456 p.T486P 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 129 0 0 116 10 7.93651 KIAA1109 0 genome.wustl.edu 37 4 123176338 123176338 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 123176338 123176338 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.6278 p.V2093A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 197 0 0 139 15 9.74026 FAT4 0 genome.wustl.edu 37 4 126372586 126372586 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 126372586 126372586 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10415 p.T3472I 0.976 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 261 0 0 244 26 9.62963 CRIPAK 0 genome.wustl.edu 37 4 1389482 1389482 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 1389482 1389482 G A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.1183 p.A395T 0.210 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 264 0 0 208 29 12.2363 RNF150 0 genome.wustl.edu 37 4 141832415 141832415 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 141832415 141832415 T G SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.1081 p.T361P 0.986 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 118 0 0 100 9 8.25688 SMAD1 0 genome.wustl.edu 37 4 146474973 146474973 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 146474973 146474973 C T SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known silent c.1035 p.A345 0.053 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 275 0 0 242 20 7.63359 CPEB2 0 genome.wustl.edu 37 4 15055785 15055785 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 15055785 15055785 C A SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2405 p.P802H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 199 1 0.5 197 30 13.2159 TLR2 0 genome.wustl.edu 37 4 154624401 154624401 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 154624401 154624401 T C SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known silent c.342 p.N114 0.025 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 125 0 0 105 12 10.2564 LRAT 0 genome.wustl.edu 37 4 155665738 155665738 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 155665738 155665738 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.260 p.R87H 0.260 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 51 0 0 53 7 11.6667 FNIP2 0 genome.wustl.edu 37 4 159790317 159790317 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 159790317 159790317 G T SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.2598 p.K866N 0.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 96 0 0 63 12 16 LDB2 0 genome.wustl.edu 37 4 16597436 16597436 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 16597436 16597436 G A SNP LDB2 ENST00000304523 human ensembl 74_37 -1 known silent c.298 p.L100 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 88 0 0 101 13 11.4035 MSMO1 0 genome.wustl.edu 37 4 166259034 166259034 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 166259034 166259034 T C SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known missense c.349 p.Y117H 0.997 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 157 0 0 115 20 14.8148 TLL1 0 genome.wustl.edu 37 4 167020518 167020518 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 167020518 167020518 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2746 p.D916N 0.989 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 309 0 0 238 62 20.6667 MFAP3L 0 genome.wustl.edu 37 4 170912709 170912709 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 170912709 170912709 C T SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known silent c.1050 p.A350 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 171 0 0 152 18 10.5882 TACC3 0 genome.wustl.edu 37 4 1725278 1725278 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 1725278 1725278 G T SNP TACC3 ENST00000313288 human ensembl 74_37 +1 known missense c.130 p.V44L 1.000 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 75 0 0 53 5 8.62069 CEP44 0 genome.wustl.edu 37 4 175225417 175225417 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 175225417 175225417 A C SNP CEP44 ENST00000426172 human ensembl 74_37 +1 known missense c.404 p.K135T 0.976 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 101 0 0 71 4 5.33333 WDR17 0 genome.wustl.edu 37 4 177017731 177017731 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 177017731 177017731 C G SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.61 p.Q21E 1.000 NULL 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 WDR17 HGNC ENSG00000150627 156 0 0 156 11 6.58683 TENM3 0 genome.wustl.edu 37 4 183609430 183609430 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 183609430 183609430 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.2147 p.C716F 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 142 0 0 103 19 15.5738 TENM3 0 genome.wustl.edu 37 4 183664511 183664511 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 183664511 183664511 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3568 p.D1190N 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 139 0 0 78 18 18.75 WWC2 0 genome.wustl.edu 37 4 184175055 184175055 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 184175055 184175055 A G SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.1099 p.T367A 0.837 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 40 0 0 37 6 13.9535 TRAPPC11 0 genome.wustl.edu 37 4 184622874 184622874 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 184622874 184622874 C T SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known missense c.2876 p.A959V 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 146 0 0 133 10 6.99301 IRF2 0 genome.wustl.edu 37 4 185339701 185339701 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 185339701 185339701 G A SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.349 p.R117W 0.989 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 156 0 0 147 20 11.976 CCDC110 0 genome.wustl.edu 37 4 186381154 186381154 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 186381154 186381154 T C SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.587 p.N196S 0.415 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 120 0 0 92 11 10.6796 ZFP42 0 genome.wustl.edu 37 4 188924074 188924074 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 188924074 188924074 C T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.113 p.A38V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 132 0 0 101 10 9.00901 SLC34A2 0 genome.wustl.edu 37 4 25676133 25676133 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 25676133 25676133 G A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1340 p.G447D 0.999 pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 183 0 0 131 39 22.9412 TBC1D1 0 genome.wustl.edu 37 4 38023251 38023251 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 38023251 38023251 C T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known silent c.1122 p.A374 0.017 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 30 0 0 29 2 6.45161 PDS5A 0 genome.wustl.edu 37 4 39863909 39863909 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 39863909 39863909 T A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.3016 p.I1006F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 11 0 0 8 2 20 GABRA4 0 genome.wustl.edu 37 4 46930594 46930594 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 46930594 46930594 C T SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.1313 p.R438H 0.434 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 151 0 0 144 19 11.6564 ATP10D 0 genome.wustl.edu 37 4 47525066 47525066 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 47525066 47525066 G A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.523 p.V175I 1.000 pfam_ATPase_P-typ_transduc_dom_A,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 ATP10D HGNC ENSG00000145246 122 0 0 114 13 10.2362 PIGG 0 genome.wustl.edu 37 4 524279 524279 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 524279 524279 G A SNP PIGG ENST00000453061 human ensembl 74_37 +1 known silent c.2316 p.T772 1.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 347 0 0 286 27 8.6262 CLOCK 0 genome.wustl.edu 37 4 56304470 56304470 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 56304470 56304470 C A SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known missense c.2340 p.Q780H 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 89 0 0 90 13 12.6214 WFS1 0 genome.wustl.edu 37 4 6303327 6303327 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 6303327 6303327 C T SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1805 p.A602V 0.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 258 1 0.3861 179 24 11.8227 PDE6B 0 genome.wustl.edu 37 4 651213 651213 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 651213 651213 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.1331 p.R444H 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 109 0 0 78 9 10.3448 MAN2B2 0 genome.wustl.edu 37 4 6611524 6611524 + Splice_Site SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 6611524 6611524 G T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known splice_site c.2007-1 e13-1 0.989 - - - no_errors MAN2B2 HGNC ENSG00000013288 153 0 0 121 7 5.46875 MAN2B2 0 genome.wustl.edu 37 4 6612993 6612993 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 6612993 6612993 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2551 p.G851R 0.006 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 51 0 0 49 12 19.6721 ENAM 0 genome.wustl.edu 37 4 71508334 71508334 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 71508334 71508334 T A SNP ENAM ENST00000396073 human ensembl 74_37 +1 known missense c.1191 p.N397K 0.997 NULL NULL - no_errors ENAM HGNC ENSG00000132464 225 0 0 195 24 10.9589 NPFFR2 0 genome.wustl.edu 37 4 72897782 72897782 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 72897782 72897782 C T SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.164 p.A55V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 34 0 0 29 5 14.7059 FRAS1 0 genome.wustl.edu 37 4 79334172 79334172 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 79334172 79334172 A G SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.4358 p.N1453S 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 30 0 0 31 2 6.06061 HNRNPDL 0 genome.wustl.edu 37 4 83347273 83347273 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 83347273 83347273 C T SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known missense c.1202 p.S401N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 209 0 0 138 18 11.5385 HPSE 0 genome.wustl.edu 37 4 84230574 84230574 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 84230574 84230574 G A SNP HPSE ENST00000311412 human ensembl 74_37 -1 known missense c.965 p.S322F 0.022 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 104 0 0 92 15 14.0187 CCSER1 0 genome.wustl.edu 37 4 91701696 91701696 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 91701696 91701696 G A SNP CCSER1 ENST00000504150 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCSER1 HGNC ENSG00000184305 33 0 0 24 4 14.2857 GRID2 0 genome.wustl.edu 37 4 94138155 94138155 + RNA SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 94138155 94138155 C T SNP GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 59 0 0 38 7 15.5556 CCT5 0 genome.wustl.edu 37 5 10258614 10258614 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 10258614 10258614 C T SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known silent c.840 p.Y280 0.981 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 139 0 0 121 11 8.33333 CAMK4 0 genome.wustl.edu 37 5 110819980 110819980 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 110819980 110819980 C T SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.1238 p.A413V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 64 0 0 79 6 7.05882 STARD4 0 genome.wustl.edu 37 5 110836639 110836639 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 110836639 110836639 C T SNP STARD4 ENST00000502322 human ensembl 74_37 -1 putative missense c.458 p.G153D 0.000 NULL pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 124 0 0 154 15 8.87574 MCC 0 genome.wustl.edu 37 5 112676242 112676242 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 112676242 112676242 C A SNP MCC ENST00000408903 human ensembl 74_37 -1 putative nonsense c.601 p.G201* 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 100 0 0 143 11 7.14286 PGGT1B 0 genome.wustl.edu 37 5 114577261 114577261 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 114577261 114577261 A G SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known missense c.302 p.L101P 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 74 0 0 88 5 5.37634 FEM1C 0 genome.wustl.edu 37 5 114860032 114860032 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 114860032 114860032 T C SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known silent c.1827 p.L609 0.988 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 121 0 0 148 11 6.91824 TNFAIP8 0 genome.wustl.edu 37 5 118728727 118728727 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 118728727 118728727 C T SNP TNFAIP8 ENST00000504771 human ensembl 74_37 +1 known missense c.248 p.A83V 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8 HGNC ENSG00000145779 56 0 0 43 6 12.2449 SNX2 0 genome.wustl.edu 37 5 122139221 122139221 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 122139221 122139221 G A SNP SNX2 ENST00000379516 human ensembl 74_37 +1 known missense c.556 p.D186N 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX2 HGNC ENSG00000205302 110 1 0.900901 130 15 10.3448 LMNB1 0 genome.wustl.edu 37 5 126156790 126156790 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 126156790 126156790 A G SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known missense c.1349 p.D450G 1.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 157 0 0 187 18 8.78049 PRRC1 0 genome.wustl.edu 37 5 126860552 126860552 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 126860552 126860552 C G SNP PRRC1 ENST00000512635 human ensembl 74_37 +1 known missense c.433 p.H145D 1.000 NULL pfam_NTPase/PRRC1 - no_errors PRRC1 HGNC ENSG00000164244 239 0 0 318 21 6.19469 SLC12A2 0 genome.wustl.edu 37 5 127483327 127483327 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 127483327 127483327 T C SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.1787 p.V596A 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 198 0 0 264 21 7.36842 P4HA2 0 genome.wustl.edu 37 5 131543466 131543466 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 131543466 131543466 C T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.1015 p.V339I 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 316 0 0 411 30 6.80272 C5orf15 0 genome.wustl.edu 37 5 133292616 133292616 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 133292616 133292616 A G SNP C5orf15 ENST00000231512 human ensembl 74_37 -1 known silent c.732 p.H244 1.000 NULL NULL - no_errors C5orf15 HGNC ENSG00000113583 223 0 0 250 22 8.08824 PHF15 0 genome.wustl.edu 37 5 133914618 133914618 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 133914618 133914618 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.1984 p.G662R 0.237 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 123 0 0 173 15 7.97872 TRPC7 0 genome.wustl.edu 37 5 135583370 135583370 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 135583370 135583370 C T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.1633 p.A545T 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 126 0 0 127 22 14.7651 SPOCK1 0 genome.wustl.edu 37 5 136602745 136602745 + Splice_Site SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 136602745 136602745 C A SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known splice_site c.187-1 e2-1 1.000 - - - no_errors SPOCK1 HGNC ENSG00000152377 144 0 0 230 19 7.63052 CTNNA1 0 genome.wustl.edu 37 5 138253547 138253547 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 138253547 138253547 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known silent c.1506 p.V502 0.071 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 562 0 0 709 50 6.58762 HARS2 0 genome.wustl.edu 37 5 140076918 140076918 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140076918 140076918 G A SNP HARS2 ENST00000230771 human ensembl 74_37 +1 known missense c.1124 p.G375D 1.000 pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC ENSG00000112855 78 0 0 122 7 5.42636 PCDHA1 0 genome.wustl.edu 37 5 140166090 140166090 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140166090 140166090 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.215 p.R72K 0.003 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 165 1 0.60241 226 19 7.7551 PCDHA2 0 genome.wustl.edu 37 5 140174888 140174888 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140174888 140174888 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.339 p.P113 0.960 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 191 0 0 242 14 5.46875 PCDHA11 0 genome.wustl.edu 37 5 140250228 140250228 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140250228 140250228 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1540 p.G514S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 100 0 0 141 12 7.84314 PCDHA13 0 genome.wustl.edu 37 5 140263678 140263678 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140263678 140263678 T C SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1825 p.Y609H 0.937 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 101 0 0 113 7 5.83333 PCDHAC1 0 genome.wustl.edu 37 5 140307318 140307318 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140307318 140307318 C T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known nonsense c.841 p.R281* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 95 0 0 101 9 8.18182 PCDHB2 0 genome.wustl.edu 37 5 140474700 140474700 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140474700 140474700 A C SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.326 p.Q109P 0.996 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 90 0 0 119 12 9.16031 PCDHB3 0 genome.wustl.edu 37 5 140481206 140481206 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140481206 140481206 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.973 p.G325R 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 106 0 0 128 15 10.4895 PCDHB3 0 genome.wustl.edu 37 5 140482556 140482556 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140482556 140482556 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.2323 p.V775I 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 172 0 0 219 17 7.20339 PCDHB5 0 genome.wustl.edu 37 5 140516493 140516493 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140516493 140516493 C A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1477 p.Q493K 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 141 0 0 150 18 10.7143 PCDHB6 0 genome.wustl.edu 37 5 140531173 140531173 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140531173 140531173 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1335 p.N445 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 155 1 0.641026 101 72 41.6185 PCDHB7 0 genome.wustl.edu 37 5 140553418 140553418 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140553418 140553418 G T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1002 p.V334 0.860 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 97 0 0 126 9 6.66667 PCDHB8 0 genome.wustl.edu 37 5 140559148 140559148 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140559148 140559148 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1533 p.N511 0.764 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 140 0 0 159 25 13.587 PCDHB10 0 genome.wustl.edu 37 5 140573645 140573645 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140573645 140573645 A G SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1520 p.N507S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 140 0 0 135 11 7.53425 PCDHB13 0 genome.wustl.edu 37 5 140595729 140595729 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140595729 140595729 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.2034 p.P678 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 218 1 0.456621 257 22 7.8853 SLC25A2 0 genome.wustl.edu 37 5 140682918 140682918 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140682918 140682918 C T SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.515 p.G172E 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 197 0 0 269 17 5.94406 PCDHGA3 0 genome.wustl.edu 37 5 140724035 140724035 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140724035 140724035 A G SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.435 p.L145 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 111 0 0 134 12 8.21918 PCDHGA4 0 genome.wustl.edu 37 5 140737042 140737042 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140737042 140737042 C A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.2275 p.L759I 0.962 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 112 0 0 144 11 7.09677 PCDHGA5 0 genome.wustl.edu 37 5 140744549 140744549 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140744549 140744549 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.652 p.G218R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 114 0 0 113 8 6.61157 PCDHGA7 0 genome.wustl.edu 37 5 140762728 140762728 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140762728 140762728 G T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.262 p.G88C 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 129 0 0 145 11 7.05128 PCDHGA8 0 genome.wustl.edu 37 5 140773440 140773440 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140773440 140773440 A G SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1060 p.S354G 0.069 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 223 1 0.446429 225 18 7.40741 PCDHGC3 0 genome.wustl.edu 37 5 140856480 140856480 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 140856480 140856480 T C SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.797 p.V266A 0.020 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 108 0 0 141 11 7.23684 FCHSD1 0 genome.wustl.edu 37 5 141026256 141026256 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 141026256 141026256 C T SNP FCHSD1 ENST00000435817 human ensembl 74_37 -1 known missense c.958 p.A320T 0.842 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 25 0 0 37 4 9.7561 PCDH1 0 genome.wustl.edu 37 5 141248141 141248141 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 141248141 141248141 A T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.896 p.V299D 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 48 0 0 53 8 13.1148 KIAA0141 0 genome.wustl.edu 37 5 141314083 141314083 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 141314083 141314083 T G SNP KIAA0141 ENST00000194118 human ensembl 74_37 +1 known missense c.1081 p.F361V 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 344 0 0 359 34 8.6514 NDFIP1 0 genome.wustl.edu 37 5 141515313 141515313 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 141515313 141515313 C T SNP NDFIP1 ENST00000253814 human ensembl 74_37 +1 known missense c.301 p.R101W 0.988 pfam_NEDD4/BSD2 pfam_NEDD4/BSD2 - no_errors NDFIP1 HGNC ENSG00000131507 248 0 0 323 20 5.8309 SH3RF2 0 genome.wustl.edu 37 5 145317822 145317822 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 145317822 145317822 G A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.331 p.A111T 0.557 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 89 0 0 58 13 18.3099 SH3RF2 0 genome.wustl.edu 37 5 145428723 145428723 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 145428723 145428723 T C SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.1237 p.C413R 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 111 0 0 102 11 9.73451 ARSI 0 genome.wustl.edu 37 5 149676950 149676950 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 149676950 149676950 G A SNP ARSI ENST00000328668 human ensembl 74_37 -1 known missense c.1537 p.P513S 1.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 231 0 0 172 25 12.6904 ZNF300P1 0 genome.wustl.edu 37 5 150311085 150311085 + RNA SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 150311085 150311085 A G SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.973 - - - no_errors ZNF300P1 HGNC ENSG00000197083 65 0 0 41 4 8.88889 CCDC69 0 genome.wustl.edu 37 5 150584990 150584990 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 150584990 150584990 T C SNP CCDC69 ENST00000355417 human ensembl 74_37 -1 known missense c.95 p.H32R 0.747 NULL superfamily_ER_p29_C - no_errors CCDC69 HGNC ENSG00000198624 93 0 0 93 8 7.92079 FAT2 0 genome.wustl.edu 37 5 150917444 150917444 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 150917444 150917444 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.9103 p.A3035T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 119 0 0 113 8 6.61157 KIF4B 0 genome.wustl.edu 37 5 154393781 154393781 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 154393781 154393781 T G SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.362 p.L121R 0.995 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 KIF4B HGNC ENSG00000226650 164 0 0 128 17 11.7241 PLEKHG4B 0 genome.wustl.edu 37 5 156192 156192 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 156192 156192 G A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1147 p.A383T 0.002 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 127 0 0 100 25 20 LSM11 0 genome.wustl.edu 37 5 157181069 157181069 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 157181069 157181069 C T SNP LSM11 ENST00000286307 human ensembl 74_37 +1 known missense c.646 p.R216W 0.997 superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 141 0 0 129 9 6.52174 TTC1 0 genome.wustl.edu 37 5 159463806 159463806 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 159463806 159463806 A C SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known missense c.500 p.K167T 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 129 0 0 112 14 11.1111 CPEB4 0 genome.wustl.edu 37 5 173317434 173317434 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 173317434 173317434 A G SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.698 p.H233R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 155 0 0 155 11 6.62651 CDHR2 0 genome.wustl.edu 37 5 176012966 176012966 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 176012966 176012966 A G SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2746 p.I916V 0.988 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 150 0 0 146 15 9.31677 ZNF346 0 genome.wustl.edu 37 5 176477895 176477895 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 176477895 176477895 C T SNP ZNF346 ENST00000261948 human ensembl 74_37 +1 known missense c.736 p.R246C 1.000 NULL smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF346 HGNC ENSG00000113761 103 0 0 78 10 11.3636 ADAMTS2 0 genome.wustl.edu 37 5 178555036 178555036 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 178555036 178555036 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.2541 p.N847 0.589 NULL 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 208 0 0 148 24 13.9535 PRDM9 0 genome.wustl.edu 37 5 23527040 23527040 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 23527040 23527040 C T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1843 p.R615W 0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 118 0 0 88 7 7.36842 PDZD2 0 genome.wustl.edu 37 5 32090692 32090692 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 32090692 32090692 G T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.7138 p.G2380W 0.340 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 59 0 0 64 9 12.3288 C1QTNF3 0 genome.wustl.edu 37 5 34043142 34043142 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 34043142 34043142 C T SNP C1QTNF3 ENST00000382065 human ensembl 74_37 -1 known missense c.89 p.S30N 1.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 323 0 0 264 28 9.58904 AGXT2 0 genome.wustl.edu 37 5 35047909 35047909 + Splice_Site SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 35047909 35047909 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known splice_site c.88+1 e1+1 0.982 - - - no_errors AGXT2 HGNC ENSG00000113492 87 0 0 55 4 6.77966 NUP155 0 genome.wustl.edu 37 5 37364349 37364349 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 37364349 37364349 G A SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.295 p.H99Y 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 63 0 0 65 4 5.7971 EGFLAM 0 genome.wustl.edu 37 5 38438416 38438416 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 38438416 38438416 T C SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.2323 p.F775L 0.999 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 100 0 0 61 4 6.15385 C6 0 genome.wustl.edu 37 5 41149516 41149516 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 41149516 41149516 T G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.2450 p.K817T 0.180 pfam_Kazal_dom,smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 280 0 0 213 43 16.7969 PELO 0 genome.wustl.edu 37 5 52097317 52097317 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 52097317 52097317 A G SNP PELO ENST00000274311 human ensembl 74_37 +1 known silent c.801 p.S267 0.972 pfam_eRF1_2,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 92 0 0 90 13 12.6214 ITGA2 0 genome.wustl.edu 37 5 52366056 52366056 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 52366056 52366056 C T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.2201 p.A734V 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 125 0 0 90 15 14.2857 PDE4D 0 genome.wustl.edu 37 5 58270635 58270635 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 58270635 58270635 G A SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known silent c.2286 p.C762 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 472 1 0.211416 493 51 9.375 DEPDC1B 0 genome.wustl.edu 37 5 59943279 59943279 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 59943279 59943279 A G SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known silent c.396 p.N132 1.000 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 128 0 0 93 11 10.5769 IPO11 0 genome.wustl.edu 37 5 61789842 61789842 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 61789842 61789842 G A SNP IPO11 ENST00000409296 human ensembl 74_37 +1 known missense c.1601 p.R534H 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 139 0 0 98 17 14.7826 HTR1A 0 genome.wustl.edu 37 5 63256782 63256782 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 63256782 63256782 A G SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.765 p.N255 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 167 0 0 134 11 7.58621 RNF180 0 genome.wustl.edu 37 5 63510254 63510254 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 63510254 63510254 C T SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known silent c.1101 p.S367 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 113 0 0 100 12 10.7143 PPWD1 0 genome.wustl.edu 37 5 64881883 64881883 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 64881883 64881883 T C SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known missense c.1672 p.W558R 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 181 0 0 157 26 14.2077 TRAPPC13 0 genome.wustl.edu 37 5 64931134 64931134 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 64931134 64931134 G T SNP TRAPPC13 ENST00000545191 human ensembl 74_37 +1 known missense c.53 p.R18L 1.000 NULL pfam_DUF974 - no_errors TRAPPC13 HGNC ENSG00000113597 93 0 0 64 8 11.1111 POLK 0 genome.wustl.edu 37 5 74892828 74892828 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 74892828 74892828 A G SNP POLK ENST00000241436 human ensembl 74_37 +1 known silent c.2310 p.E770 0.002 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 236 0 0 220 20 8.33333 AP3B1 0 genome.wustl.edu 37 5 77471506 77471506 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 77471506 77471506 A G SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.1111 p.Y371H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 90 0 0 92 7 7.07071 BHMT2 0 genome.wustl.edu 37 5 78375234 78375234 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 78375234 78375234 T C SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.209 p.V70A 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 122 0 0 113 11 8.87097 THBS4 0 genome.wustl.edu 37 5 79378294 79378294 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 79378294 79378294 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.2750 p.R917H 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 203 0 0 172 24 12.2449 ZFYVE16 0 genome.wustl.edu 37 5 79735832 79735832 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 79735832 79735832 C A SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known nonsense c.2400 p.C800* 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 221 0 0 200 22 9.90991 VCAN 0 genome.wustl.edu 37 5 82835480 82835480 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 82835480 82835480 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.6658 p.H2220Y 0.938 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 211 0 0 209 30 12.5523 VCAN 0 genome.wustl.edu 37 5 82876243 82876243 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 82876243 82876243 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.10181 p.S3394L 0.991 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 85 0 0 82 5 5.74713 NR2F1 0 genome.wustl.edu 37 5 92923860 92923860 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 92923860 92923860 C G SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.701 p.A234G 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt 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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 102 0 0 95 6 5.94059 TTC37 0 genome.wustl.edu 37 5 94863727 94863727 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 94863727 94863727 G A SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.1124 p.T375M 0.713 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 95 0 0 105 8 7.07965 CD164 0 genome.wustl.edu 37 6 109690119 109690119 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 109690119 109690119 G A SNP CD164 ENST00000310786 human ensembl 74_37 -1 known nonsense c.529 p.Q177* 1.000 pfam_CD164_MGC24 pfam_CD164_MGC24,prints_CD164_MGC24 - no_errors CD164 HGNC ENSG00000135535 83 0 0 79 9 10.2273 REV3L 0 genome.wustl.edu 37 6 111694064 111694064 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 111694064 111694064 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.5494 p.V1832M 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 319 0 0 257 28 9.82456 TRAF3IP2 0 genome.wustl.edu 37 6 111912889 111912889 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 111912889 111912889 A G SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known missense c.428 p.M143T 0.804 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 113 0 0 96 8 7.69231 LAMA4 0 genome.wustl.edu 37 6 112493865 112493865 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 112493865 112493865 C A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1499 p.R500M 1.000 pfam_Laminin_I pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 103 1 0.961538 90 8 8.16327 COL10A1 0 genome.wustl.edu 37 6 116446526 116446526 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 116446526 116446526 T C SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.130 p.I44V 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 433 0 0 383 35 8.37321 GJA1 0 genome.wustl.edu 37 6 121768698 121768698 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 121768698 121768698 C T SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known silent c.705 p.G235 0.622 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 181 0 0 151 14 8.48485 EDN1 0 genome.wustl.edu 37 6 12292633 12292633 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 12292633 12292633 A G SNP EDN1 ENST00000379375 human ensembl 74_37 +1 known missense c.124 p.S42G 0.018 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 175 0 0 169 23 11.9792 TMEM200A 0 genome.wustl.edu 37 6 130761733 130761733 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 130761733 130761733 C T SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.166 p.R56W 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 197 0 0 154 18 10.4651 EPB41L2 0 genome.wustl.edu 37 6 131206297 131206297 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 131206297 131206297 T C SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.1772 p.D591G 0.871 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 217 0 0 224 16 6.66667 EYA4 0 genome.wustl.edu 37 6 133844197 133844197 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 133844197 133844197 T C SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.1620 p.S540 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 160 1 0.621118 169 14 7.65027 IFNGR1 0 genome.wustl.edu 37 6 137528210 137528210 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 137528210 137528210 A G SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known silent c.90 p.P30 0.016 superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 146 1 0.680272 134 11 7.58621 CCDC170 0 genome.wustl.edu 37 6 151907169 151907169 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 151907169 151907169 C T SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.1238 p.A413V 0.998 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 62 0 0 53 6 10.1695 TIAM2 0 genome.wustl.edu 37 6 155578018 155578018 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 155578018 155578018 G T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.4956 p.E1652D 0.979 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 75 0 0 74 7 8.64198 TAGAP 0 genome.wustl.edu 37 6 159458069 159458069 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 159458069 159458069 C G SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.986 p.S329T 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 132 0 0 138 17 10.9677 PNLDC1 0 genome.wustl.edu 37 6 160240343 160240343 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 160240343 160240343 C A SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known nonsense c.1458 p.Y486* 0.868 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 78 0 0 56 5 8.19672 MLLT4 0 genome.wustl.edu 37 6 168265382 168265382 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 168265382 168265382 T A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.257 p.L86Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 368 0 0 355 103 22.4891 C6orf120 0 genome.wustl.edu 37 6 170102881 170102881 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 170102881 170102881 A G SNP C6orf120 ENST00000439249 human ensembl 74_37 +1 known missense c.383 p.H128R 0.935 NULL NULL - no_errors C6orf120 HGNC ENSG00000185127 62 0 0 53 4 7.01754 NUP153 0 genome.wustl.edu 37 6 17632903 17632903 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 17632903 17632903 T C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known silent c.2730 p.P910 0.996 pfam_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 186 0 0 158 19 10.7345 SLC17A3 0 genome.wustl.edu 37 6 25850802 25850802 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 25850802 25850802 G T SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.878 p.S293Y 0.223 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 120 1 0.826446 123 20 13.986 HIST1H2BI 0 genome.wustl.edu 37 6 26273222 26273222 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 26273222 26273222 T C SNP HIST1H2BI ENST00000377733 human ensembl 74_37 +1 known missense c.19 p.S7P 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BI HGNC ENSG00000168242 223 1 0.446429 175 17 8.85417 TRIM27 0 genome.wustl.edu 37 6 28876773 28876773 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 28876773 28876773 G A SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.863 p.T288M 0.958 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 126 0 0 118 13 9.92366 OR11A1 0 genome.wustl.edu 37 6 29394491 29394491 + Missense_Mutation SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 29394491 29394491 G C SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.928 p.Q310E 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 113 0 0 99 34 25.5639 TRIM10 0 genome.wustl.edu 37 6 30122214 30122214 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 30122214 30122214 G A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known silent c.978 p.S326 0.014 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 98 0 0 85 12 12.3711 TRIM26 0 genome.wustl.edu 37 6 30166571 30166571 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 30166571 30166571 G A SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known nonsense c.310 p.R104* 0.327 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 92 0 0 83 18 17.8218 TRIM39 0 genome.wustl.edu 37 6 30303538 30303538 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 30303538 30303538 G A SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.566 p.R189H 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 66 0 0 33 10 23.2558 ABCF1 0 genome.wustl.edu 37 6 30557938 30557938 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 30557938 30557938 C T SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.2246 p.A749V 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 142 0 0 114 9 7.31707 HLA-B 0 genome.wustl.edu 37 6 31323092 31323092 + Splice_Site SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 31323092 31323092 A G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known splice_site c.895+2 e4+2 0.998 - - - no_errors HLA-B HGNC ENSG00000234745 108 0 0 105 7 6.25 PRRC2A 0 genome.wustl.edu 37 6 31595600 31595600 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 31595600 31595600 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1349 p.R450Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 77 0 0 46 9 16.3636 HSPA1A 0 genome.wustl.edu 37 6 31785400 31785400 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 31785400 31785400 G T SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known missense c.1867 p.G623W 0.999 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 181 0 0 116 35 23.1788 SKIV2L 0 genome.wustl.edu 37 6 31928060 31928060 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 31928060 31928060 C A SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known silent c.300 p.S100 0.002 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 340 0 0 241 22 8.36502 TUBB2B 0 genome.wustl.edu 37 6 3224988 3224988 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 3224988 3224988 C T SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known silent c.1335 p.A445 0.459 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 99 0 0 75 18 19.3548 ITPR3 0 genome.wustl.edu 37 6 33648428 33648428 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 33648428 33648428 C A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.4447 p.P1483T 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 151 1 0.657895 106 10 8.62069 ARMC12 0 genome.wustl.edu 37 6 35706234 35706234 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 35706234 35706234 C A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.464 p.T155N 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 138 0 0 104 12 10.3448 BTBD9 0 genome.wustl.edu 37 6 38562049 38562049 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 38562049 38562049 G T SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known silent c.240 p.L80 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 180 1 0.552486 186 18 8.82353 KLHDC3 0 genome.wustl.edu 37 6 42986439 42986439 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 42986439 42986439 C A SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known missense c.802 p.L268I 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 389 0 0 302 25 7.64526 ZNF318 0 genome.wustl.edu 37 6 43323496 43323496 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 43323496 43323496 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.1576 p.R526C 0.997 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 646 1 0.15456 516 85 14.1431 AARS2 0 genome.wustl.edu 37 6 44278779 44278779 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 44278779 44278779 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.701 p.A234V 0.096 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 218 1 0.456621 170 12 6.59341 SUPT3H 0 genome.wustl.edu 37 6 44922278 44922278 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 44922278 44922278 A T SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.680 p.V227D 0.050 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 178 0 0 165 16 8.83978 GSTA2 0 genome.wustl.edu 37 6 52615457 52615457 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 52615457 52615457 T G SNP GSTA2 ENST00000493422 human ensembl 74_37 -1 known missense c.587 p.K196T 0.993 superfamily_Glutathione-S-Trfase_C-like,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC ENSG00000244067 197 0 0 174 56 24.3478 GCM1 0 genome.wustl.edu 37 6 52993350 52993350 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 52993350 52993350 C T SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.965 p.S322N 0.366 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 116 0 0 130 14 9.72222 ZNF451 0 genome.wustl.edu 37 6 57018849 57018849 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 57018849 57018849 C T SNP ZNF451 ENST00000491832 human ensembl 74_37 +1 putative missense c.3074 p.T1025M 0.876 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 88 0 0 73 14 16.092 FILIP1 0 genome.wustl.edu 37 6 76022804 76022804 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 76022804 76022804 G A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.2744 p.T915I 0.997 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 247 0 0 257 31 10.7639 SNAP91 0 genome.wustl.edu 37 6 84417621 84417621 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 84417621 84417621 C T SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.26 p.R9Q 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 71 0 0 56 8 12.5 SYNCRIP 0 genome.wustl.edu 37 6 86332298 86332298 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 86332298 86332298 G A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.910 p.R304C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 450 0 0 408 52 11.3043 MDN1 0 genome.wustl.edu 37 6 90461210 90461210 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 90461210 90461210 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.3167 p.Y1056C 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 92 0 0 95 7 6.86275 CASP8AP2 0 genome.wustl.edu 37 6 90577950 90577950 + RNA SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 90577950 90577950 T C SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors CASP8AP2 HGNC ENSG00000118412 67 0 0 68 6 8.10811 ZAN 0 genome.wustl.edu 37 7 100388641 100388641 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 100388641 100388641 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.7432 p.M2478V 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 21 0 0 19 3 13.6364 MUC17 0 genome.wustl.edu 37 7 100678670 100678670 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 100678670 100678670 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.3973 p.T1325A 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 495 0 0 365 41 10.0985 ZNHIT1 0 genome.wustl.edu 37 7 100866016 100866016 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 100866016 100866016 G A SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known missense c.154 p.G52S 0.987 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 110 0 0 80 7 8.04598 SLC26A5 0 genome.wustl.edu 37 7 103038409 103038409 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 103038409 103038409 T C SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.941 p.N314S 0.155 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 191 0 0 148 17 10.303 ORC5 0 genome.wustl.edu 37 7 103824586 103824586 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 103824586 103824586 C T SNP ORC5 ENST00000297431 human ensembl 74_37 -1 known missense c.718 p.V240M 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors ORC5 HGNC ENSG00000164815 52 0 0 38 7 15.5556 PIK3CG 0 genome.wustl.edu 37 7 106522606 106522606 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 106522606 106522606 T A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.2583 p.D861E 0.997 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_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 PIK3CG HGNC ENSG00000105851 133 0 0 88 25 22.1239 HBP1 0 genome.wustl.edu 37 7 106820374 106820374 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 106820374 106820374 T C SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known silent c.36 p.N12 1.000 NULL pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 244 0 0 192 24 11.1111 LAMB4 0 genome.wustl.edu 37 7 107692696 107692696 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 107692696 107692696 T G SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3762 p.Q1254H 0.808 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 181 1 0.549451 145 18 11.0429 LAMB4 0 genome.wustl.edu 37 7 107738871 107738871 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 107738871 107738871 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1337 p.A446V 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 103 0 0 90 7 7.21649 NRCAM 0 genome.wustl.edu 37 7 107824928 107824928 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 107824928 107824928 C A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.2166 p.M722I 0.981 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 NRCAM HGNC ENSG00000091129 84 0 0 67 10 12.987 CAV2 0 genome.wustl.edu 37 7 116146264 116146264 + RNA SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 116146264 116146264 A G SNP CAV2 ENST00000495841 human ensembl 74_37 +1 known rna NULL NULL 0.096 - - - no_errors CAV2 HGNC ENSG00000105971 54 0 0 59 8 11.9403 ANKRD7 0 genome.wustl.edu 37 7 117865046 117865046 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 117865046 117865046 G A SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known missense c.162 p.M54I 0.040 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 ANKRD7 HGNC ENSG00000106013 110 0 0 96 10 9.43396 PTPRZ1 0 genome.wustl.edu 37 7 121659280 121659280 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 121659280 121659280 T G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.4946 p.F1649C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 189 0 0 121 55 31.25 AASS 0 genome.wustl.edu 37 7 121773676 121773676 + Silent SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 121773676 121773676 G T SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.105 p.A35 0.994 pfam_AlaDH/PNT_N pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 163 0 0 106 15 12.3967 CADPS2 0 genome.wustl.edu 37 7 122269329 122269329 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 122269329 122269329 C T SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known silent c.840 p.R280 0.046 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 36 0 0 32 8 20 RNF148 0 genome.wustl.edu 37 7 122342177 122342177 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 122342177 122342177 C T SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known missense c.628 p.V210I 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 177 0 0 194 20 9.34579 GRM8 0 genome.wustl.edu 37 7 126883204 126883204 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 126883204 126883204 C A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.55 p.A19S 0.922 prints_GPCR_3_mtglu_rcpt_8 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 151 1 0.657895 129 21 14 FLNC 0 genome.wustl.edu 37 7 128483511 128483511 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 128483511 128483511 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.2691 p.A897 0.082 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 62 0 0 48 7 12.7273 AKR1B1 0 genome.wustl.edu 37 7 134130027 134130027 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 134130027 134130027 T G SNP AKR1B1 ENST00000285930 human ensembl 74_37 -1 known missense c.871 p.S291R 0.856 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 32 0 0 27 3 10 SLC13A4 0 genome.wustl.edu 37 7 135380132 135380132 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 135380132 135380132 G A SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known silent c.1000 p.L334 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 124 0 0 102 12 10.5263 KLRG2 0 genome.wustl.edu 37 7 139168322 139168322 + Nonsense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 139168322 139168322 C A SNP KLRG2 ENST00000340940 human ensembl 74_37 -1 known nonsense c.67 p.G23* 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 27 0 0 17 4 19.0476 WEE2 0 genome.wustl.edu 37 7 141422976 141422976 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 141422976 141422976 G T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.923 p.G308V 0.099 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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 360 1 0.277008 324 30 8.47458 TAS2R4 0 genome.wustl.edu 37 7 141478568 141478568 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 141478568 141478568 A T SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known missense c.280 p.S94C 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 313 0 0 301 35 10.4167 ARHGEF5 0 genome.wustl.edu 37 7 144070295 144070295 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 144070295 144070295 G A SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known missense c.4058 p.R1353Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 ARHGEF5 HGNC ENSG00000050327 124 0 0 163 9 5.23256 CUL1 0 genome.wustl.edu 37 7 148454195 148454195 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 148454195 148454195 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.436 p.R146C 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 180 0 0 175 16 8.37696 ZNF425 0 genome.wustl.edu 37 7 148801971 148801971 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 148801971 148801971 T C SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.992 p.Q331R 0.001 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 65 0 0 42 9 17.6471 ZNF746 0 genome.wustl.edu 37 7 149171815 149171815 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 149171815 149171815 T C SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.1598 p.H533R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 24 0 0 6 4 40 KCNH2 0 genome.wustl.edu 37 7 150648700 150648700 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 150648700 150648700 C T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.1781 p.G594D 0.962 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 95 0 0 55 5 8.33333 PTPRN2 0 genome.wustl.edu 37 7 158109597 158109597 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 158109597 158109597 A G SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.260 p.V87A 0.153 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 57 0 0 39 6 13.3333 ITGB8 0 genome.wustl.edu 37 7 20418790 20418790 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 20418790 20418790 G A SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.505 p.V169I 0.977 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 120 0 0 122 18 12.8571 CHST12 0 genome.wustl.edu 37 7 2472729 2472729 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 2472729 2472729 C T SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known missense c.455 p.S152L 0.937 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 163 0 0 128 8 5.88235 IQCE 0 genome.wustl.edu 37 7 2618111 2618111 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 2618111 2618111 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.581 p.G194D 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 142 0 0 93 15 13.8889 JAZF1 0 genome.wustl.edu 37 7 27934856 27934856 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 27934856 27934856 C T SNP JAZF1 ENST00000283928 human ensembl 74_37 -1 known missense c.368 p.R123H 1.000 NULL smart_Znf_C2H2-like - no_errors JAZF1 HGNC ENSG00000153814 18 0 0 24 7 22.5806 INMT 0 genome.wustl.edu 37 7 30795374 30795374 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 30795374 30795374 A G SNP INMT ENST00000013222 human ensembl 74_37 +1 known silent c.699 p.E233 0.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 154 0 0 119 12 9.16031 BBS9 0 genome.wustl.edu 37 7 33644526 33644526 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 33644526 33644526 A C SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.2571 p.E857D 0.065 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 61 0 0 52 14 21.2121 GPR141 0 genome.wustl.edu 37 7 37780104 37780104 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 37780104 37780104 T C SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.109 p.S37P 1.000 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 123 0 0 119 12 9.16031 INHBA 0 genome.wustl.edu 37 7 41729419 41729419 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 41729419 41729419 T C SNP INHBA ENST00000242208 human ensembl 74_37 -1 known silent c.1110 p.S370 0.990 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 137 0 0 131 10 7.0922 TNS3 0 genome.wustl.edu 37 7 47408631 47408631 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 47408631 47408631 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1612 p.V538I 0.002 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 94 0 0 79 13 14.1304 ABCA13 0 genome.wustl.edu 37 7 48318563 48318563 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 48318563 48318563 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.7772 p.L2591S 0.049 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 139 0 0 149 9 5.6962 ABCA13 0 genome.wustl.edu 37 7 48428702 48428702 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 48428702 48428702 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11539 p.V3847M 0.971 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 133 0 0 116 11 8.66142 IKZF1 0 genome.wustl.edu 37 7 50444307 50444307 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 50444307 50444307 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.237 p.A79 0.964 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 142 0 0 134 13 8.84354 WIPI2 0 genome.wustl.edu 37 7 5266905 5266905 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 5266905 5266905 A G SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.943 p.N315D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 103 0 0 59 7 10.6061 WIPI2 0 genome.wustl.edu 37 7 5270512 5270512 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 5270512 5270512 C T SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known silent c.1299 p.D433 0.009 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 69 0 0 56 6 9.67742 SLC29A4 0 genome.wustl.edu 37 7 5334526 5334526 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 5334526 5334526 C T SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.580 p.L194 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 322 0 0 241 27 10.0746 TNRC18 0 genome.wustl.edu 37 7 5352201 5352201 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 5352201 5352201 T C SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8321 p.N2774S 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 61 0 0 54 8 12.9032 TNRC18 0 genome.wustl.edu 37 7 5354738 5354738 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 5354738 5354738 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.6904 p.R2302C 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 22 0 0 19 7 26.9231 EGFR 0 genome.wustl.edu 37 7 55224509 55224509 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 55224509 55224509 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1191 p.T397 0.001 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_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 EGFR HGNC ENSG00000146648 154 0 0 123 16 11.5108 ZNF479 0 genome.wustl.edu 37 7 57194347 57194347 + Missense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 57194347 57194347 A T SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.118 p.L40I 0.906 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 ZNF479 HGNC ENSG00000185177 200 0 0 180 16 8.16327 CYTH3 0 genome.wustl.edu 37 7 6204516 6204516 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 6204516 6204516 G A SNP CYTH3 ENST00000465320 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CYTH3 HGNC ENSG00000008256 320 1 0.311526 244 42 14.6853 ZNF107 0 genome.wustl.edu 37 7 64168653 64168653 + Silent SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 64168653 64168653 T A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known silent c.1971 p.I657 0.943 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 63 0 0 50 11 18.0328 ASL 0 genome.wustl.edu 37 7 65546853 65546853 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 65546853 65546853 G A SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.76 p.A26T 0.581 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 79 0 0 51 8 13.5593 CALN1 0 genome.wustl.edu 37 7 71571249 71571249 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 71571249 71571249 C T SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.275 p.R92Q 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 76 0 0 45 11 19.6429 LAT2 0 genome.wustl.edu 37 7 73638400 73638400 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 73638400 73638400 A G SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known silent c.501 p.S167 0.000 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 64 0 0 51 5 8.92857 HSPB1 0 genome.wustl.edu 37 7 75933422 75933422 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 75933422 75933422 A G SNP HSPB1 ENST00000248553 human ensembl 74_37 +1 known missense c.550 p.T184A 1.000 prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB1 HGNC ENSG00000106211 25 0 0 16 2 11.1111 GNAI1 0 genome.wustl.edu 37 7 79828642 79828642 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 79828642 79828642 T C SNP GNAI1 ENST00000351004 human ensembl 74_37 +1 known silent c.405 p.G135 0.977 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI1 HGNC ENSG00000127955 88 0 0 75 17 18.4783 SEMA3D 0 genome.wustl.edu 37 7 84628962 84628962 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 84628962 84628962 G A SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.2128 p.R710W 1.000 NULL pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 144 0 0 147 15 9.25926 ABCB1 0 genome.wustl.edu 37 7 87173503 87173503 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 87173503 87173503 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2153 p.A718V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 147 0 0 140 21 13.0435 SAMD9L 0 genome.wustl.edu 37 7 92762328 92762328 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 92762328 92762328 C T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2957 p.R986H 0.866 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 178 0 0 143 51 26.2887 SLC25A13 0 genome.wustl.edu 37 7 95799420 95799420 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 95799420 95799420 C A SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1251 p.R417S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 194 1 0.512821 226 16 6.61157 TRRAP 0 genome.wustl.edu 37 7 98567888 98567888 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 98567888 98567888 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.7645 p.R2549W 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 88 0 0 63 5 7.35294 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99032463 99032463 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 99032463 99032463 T A SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.550 p.T184S 1.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 281 1 0.35461 202 39 16.1826 ZKSCAN5 0 genome.wustl.edu 37 7 99123463 99123463 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 99123463 99123463 T C SNP ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known missense c.800 p.L267P 0.201 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 230 0 0 196 29 12.8889 ZKSCAN1 0 genome.wustl.edu 37 7 99627895 99627895 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 99627895 99627895 G T SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.696 p.M232I 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 101 0 0 104 15 12.605 TAF6 0 genome.wustl.edu 37 7 99709350 99709350 + Splice_Site SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 99709350 99709350 C T SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known splice_site c.900+1 e8+1 0.999 - - - no_errors TAF6 HGNC ENSG00000106290 99 0 0 75 10 11.7647 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99951132 99951132 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 99951132 99951132 G A SNP STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 25 0 0 14 6 30 VPS13B 0 genome.wustl.edu 37 8 100520072 100520072 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 100520072 100520072 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4232 p.R1411H 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 168 1 0.591716 190 12 5.94059 VPS13B 0 genome.wustl.edu 37 8 100847902 100847902 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 100847902 100847902 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.9953 p.E3318G 0.038 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 158 0 0 174 18 9.375 RGS22 0 genome.wustl.edu 37 8 101075932 101075932 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 101075932 101075932 T A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.1064 p.D355V 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 142 0 0 169 16 8.64865 SPAG1 0 genome.wustl.edu 37 8 101253220 101253220 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 101253220 101253220 A G SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.2751 p.I917M 0.074 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 137 0 0 165 24 12.6984 UBR5 0 genome.wustl.edu 37 8 103287986 103287986 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 103287986 103287986 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.6580 p.E2194K 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 72 0 0 61 14 18.6667 FZD6 0 genome.wustl.edu 37 8 104343682 104343682 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 104343682 104343682 A G SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.2066 p.H689R 0.759 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 145 0 0 160 17 9.60452 DCAF13 0 genome.wustl.edu 37 8 104427572 104427572 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 104427572 104427572 T C SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.354 p.T118 0.984 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 83 0 0 89 8 8.24742 RP1L1 0 genome.wustl.edu 37 8 10465956 10465956 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 10465956 10465956 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.5652 p.Q1884 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 399 0 0 377 53 12.3256 RP1L1 0 genome.wustl.edu 37 8 10468348 10468348 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 10468348 10468348 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.3260 p.R1087K 0.998 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 79 0 0 85 11 11.4583 RP1L1 0 genome.wustl.edu 37 8 10470816 10470816 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 10470816 10470816 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.792 p.S264 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 128 0 0 130 7 5.10949 SYBU 0 genome.wustl.edu 37 8 110590145 110590145 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 110590145 110590145 C A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.836 p.R279I 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 231 0 0 304 27 8.1571 SLC35G5 0 genome.wustl.edu 37 8 11189448 11189448 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 11189448 11189448 A G SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.833 p.H278R 1.000 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 225 0 0 219 12 5.19481 CSMD3 0 genome.wustl.edu 37 8 113243835 113243835 + Silent SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 113243835 113243835 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.10767 p.T3589 0.989 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 206 0 0 211 14 6.22222 TRPS1 0 genome.wustl.edu 37 8 116426263 116426263 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 116426263 116426263 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.3873 p.K1291 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 271 0 0 305 18 5.57276 TRPS1 0 genome.wustl.edu 37 8 116426653 116426653 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 116426653 116426653 A G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.3483 p.N1161 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 83 0 0 87 9 9.375 NEIL2 0 genome.wustl.edu 37 8 11643661 11643661 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 11643661 11643661 C T SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known missense c.878 p.A293V 0.001 pfscan_Znf_DNA_glyclase/AP_lyase pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 88 0 0 72 20 21.7391 TRPS1 0 genome.wustl.edu 37 8 116616779 116616779 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 116616779 116616779 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1417 p.G473R 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 89 0 0 114 8 6.55738 RAD21 0 genome.wustl.edu 37 8 117868492 117868492 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 117868492 117868492 C T SNP RAD21 ENST00000297338 human ensembl 74_37 -1 known missense c.850 p.V284I 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 225 0 0 231 16 6.47773 TAF2 0 genome.wustl.edu 37 8 120744180 120744180 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 120744180 120744180 G T SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.3584 p.P1195H 0.992 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 225 1 0.442478 249 21 7.77778 ATAD2 0 genome.wustl.edu 37 8 124358423 124358423 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 124358423 124358423 G T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.2435 p.A812D 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 166 0 0 170 22 11.4583 KIAA0196 0 genome.wustl.edu 37 8 126044600 126044600 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 126044600 126044600 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known nonsense c.3218 p.W1073* 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 170 0 0 170 32 15.8416 FAM135B 0 genome.wustl.edu 37 8 139164159 139164159 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 139164159 139164159 C A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2559 p.K853N 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 147 0 0 143 20 12.2699 FAM135B 0 genome.wustl.edu 37 8 139255234 139255234 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 139255234 139255234 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.620 p.L207R 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 100 0 0 116 15 11.4504 COL22A1 0 genome.wustl.edu 37 8 139691881 139691881 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 139691881 139691881 T C SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.3051 p.A1017 0.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 216 0 0 254 17 6.27306 KCNK9 0 genome.wustl.edu 37 8 140630896 140630896 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 140630896 140630896 G T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.730 p.L244I 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 66 0 0 77 10 11.4943 PTK2 0 genome.wustl.edu 37 8 141712786 141712786 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 141712786 141712786 T C SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known silent c.2250 p.S750 0.145 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 91 0 0 141 9 6 PTK2 0 genome.wustl.edu 37 8 141828420 141828420 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 141828420 141828420 C A SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.823 p.G275C 1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 116 0 0 161 16 9.03955 TOP1MT 0 genome.wustl.edu 37 8 144407688 144407688 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 144407688 144407688 C T SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.499 p.A167T 0.905 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 207 1 0.480769 191 12 5.91133 ZC3H3 0 genome.wustl.edu 37 8 144590009 144590009 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 144590009 144590009 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.1622 p.R541H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 108 0 0 120 9 6.97674 PARP10 0 genome.wustl.edu 37 8 145060588 145060588 + RNA SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 145060588 145060588 C A SNP PARP10 ENST00000532660 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PARP10 HGNC ENSG00000178685 97 0 0 80 5 5.88235 MSR1 0 genome.wustl.edu 37 8 15998531 15998531 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 15998531 15998531 T C SNP MSR1 ENST00000381998 human ensembl 74_37 -1 known missense c.1057 p.I353V 0.894 NULL pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_STAT_TF_coiled-coil,prints_Macro_scav_rcpt - no_errors MSR1 HGNC ENSG00000038945 217 0 0 237 16 6.32411 FGL1 0 genome.wustl.edu 37 8 17739683 17739683 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 17739683 17739683 G A SNP FGL1 ENST00000381840 human ensembl 74_37 -1 known silent c.69 p.L23 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL1 HGNC ENSG00000104760 134 0 0 118 18 13.2353 PCM1 0 genome.wustl.edu 37 8 17796319 17796319 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 17796319 17796319 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.413 p.R138Q 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 102 0 0 95 13 12.037 ASAH1 0 genome.wustl.edu 37 8 17915118 17915118 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 17915118 17915118 T C SNP ASAH1 ENST00000381733 human ensembl 74_37 -1 known silent c.1161 p.T387 0.945 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 65 0 0 68 4 5.55556 ARHGEF10 0 genome.wustl.edu 37 8 1844563 1844563 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 1844563 1844563 C A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1580 p.A527E 0.985 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 231 0 0 220 29 11.6466 MYOM2 0 genome.wustl.edu 37 8 2024225 2024225 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 2024225 2024225 T C SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1125 p.A375 0.568 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM2 HGNC ENSG00000036448 21 0 0 26 3 10.3448 MYOM2 0 genome.wustl.edu 37 8 2050557 2050557 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 2050557 2050557 T C SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2720 p.V907A 0.978 superfamily_Fibronectin_type3,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM2 HGNC ENSG00000036448 76 0 0 62 4 6.06061 FAM160B2 0 genome.wustl.edu 37 8 21958207 21958207 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 21958207 21958207 G A SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.1444 p.V482M 0.984 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 177 0 0 193 20 9.38967 HR 0 genome.wustl.edu 37 8 21980012 21980012 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 21980012 21980012 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.2115 p.G705 0.996 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 21 0 0 22 4 15.3846 LGI3 0 genome.wustl.edu 37 8 22006196 22006196 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 22006196 22006196 C T SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1124 p.R375H 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 64 0 0 64 10 13.5135 BMP1 0 genome.wustl.edu 37 8 22053004 22053004 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 22053004 22053004 G A SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known missense c.1669 p.G557R 1.000 pirsf_BMP_1/tolloid-like,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 95 0 0 113 7 5.83333 NEFL 0 genome.wustl.edu 37 8 24813503 24813503 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 24813503 24813503 G A SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 34 0 0 32 8 20 SCARA3 0 genome.wustl.edu 37 8 27516873 27516873 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 27516873 27516873 C A SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.1186 p.L396I 1.000 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 81 0 0 83 9 9.78261 CSMD1 0 genome.wustl.edu 37 8 2832084 2832084 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 2832084 2832084 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8632 p.Y2878H 0.011 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 39 0 0 38 4 9.52381 KIF13B 0 genome.wustl.edu 37 8 28974391 28974391 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 28974391 28974391 A G SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.3794 p.L1265P 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 119 0 0 119 12 9.16031 CSMD1 0 genome.wustl.edu 37 8 3474261 3474261 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 3474261 3474261 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.1068 p.E356 0.993 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 65 0 0 53 4 7.01754 WHSC1L1 0 genome.wustl.edu 37 8 38133958 38133958 + Nonsense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 38133958 38133958 G A SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known nonsense c.3928 p.R1310* 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 128 0 0 130 15 10.3448 TM2D2 0 genome.wustl.edu 37 8 38851174 38851174 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 38851174 38851174 G A SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known silent c.321 p.G107 0.336 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 60 0 0 65 11 14.4737 ANK1 0 genome.wustl.edu 37 8 41530009 41530009 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 41530009 41530009 A G SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.4959 p.S1653 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 429 0 0 435 42 8.80503 RNF170 0 genome.wustl.edu 37 8 42716936 42716936 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 42716936 42716936 A G SNP RNF170 ENST00000527424 human ensembl 74_37 -1 known silent c.459 p.H153 0.922 NULL pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF170 HGNC ENSG00000120925 115 0 0 118 11 8.52713 PRKDC 0 genome.wustl.edu 37 8 48733488 48733488 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 48733488 48733488 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.9125 p.Y3042C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 96 0 0 111 7 5.9322 SNTG1 0 genome.wustl.edu 37 8 51314811 51314811 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 51314811 51314811 G A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known silent c.69 p.E23 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 197 0 0 196 26 11.7117 MOS 0 genome.wustl.edu 37 8 57025621 57025621 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 57025621 57025621 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.921 p.S307 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 53 0 0 52 3 5.45455 NSMAF 0 genome.wustl.edu 37 8 59548042 59548042 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 59548042 59548042 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known silent c.306 p.S102 0.038 NULL pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 263 0 0 258 30 10.4167 AGPAT5 0 genome.wustl.edu 37 8 6605313 6605313 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 6605313 6605313 G A SNP AGPAT5 ENST00000285518 human ensembl 74_37 +1 known missense c.709 p.D237N 0.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC ENSG00000155189 99 0 0 99 15 13.1579 MCMDC2 0 genome.wustl.edu 37 8 67786678 67786678 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 67786678 67786678 A G SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.212 p.E71G 0.771 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 120 0 0 128 12 8.57143 PREX2 0 genome.wustl.edu 37 8 68930142 68930142 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 68930142 68930142 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.203 p.E68G 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 35 0 0 33 3 8.33333 SULF1 0 genome.wustl.edu 37 8 70536271 70536271 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 70536271 70536271 A C SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1689 p.E563D 0.999 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 134 0 0 143 28 16.3743 PRDM14 0 genome.wustl.edu 37 8 70981746 70981746 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 70981746 70981746 C T SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.350 p.S117N 0.085 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 35 0 0 36 6 14.2857 NCOA2 0 genome.wustl.edu 37 8 71039221 71039221 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 71039221 71039221 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3743 p.R1248Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 58 0 0 57 3 5 ZFHX4 0 genome.wustl.edu 37 8 77763422 77763422 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 77763422 77763422 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4265 p.R1422Q 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 49 0 0 56 7 11.1111 SGK223 0 genome.wustl.edu 37 8 8235191 8235191 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 8235191 8235191 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.728 p.S243L 0.963 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 85 0 0 87 7 7.44681 LRRCC1 0 genome.wustl.edu 37 8 86050680 86050680 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 86050680 86050680 C T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.2810 p.A937V 0.999 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 112 0 0 156 10 6.0241 OSGIN2 0 genome.wustl.edu 37 8 90937188 90937188 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 90937188 90937188 G A SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1078 p.A360T 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 217 0 0 247 25 9.19118 RUNX1T1 0 genome.wustl.edu 37 8 93029468 93029468 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 93029468 93029468 A G SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.245 p.F82S 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 137 0 0 158 11 6.50888 TNKS 0 genome.wustl.edu 37 8 9564375 9564375 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 9564375 9564375 G A SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.1324 p.A442T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 175 0 0 180 14 7.21649 KCNS2 0 genome.wustl.edu 37 8 99440939 99440939 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 99440939 99440939 C A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known silent c.732 p.A244 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 257 0 0 266 38 12.5 CCDC180 0 genome.wustl.edu 37 9 100136907 100136907 + Missense_Mutation SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 100136907 100136907 A C SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.4815 p.K1605N 1.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 64 0 0 62 4 6.06061 C9orf156 0 genome.wustl.edu 37 9 100672422 100672422 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 100672422 100672422 C T SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known missense c.886 p.A296T 0.000 superfamily_UPF0066_YaeB pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 123 0 0 131 8 5.7554 CORO2A 0 genome.wustl.edu 37 9 100899955 100899955 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 100899955 100899955 G A SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known missense c.217 p.P73S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 151 0 0 107 16 13.0081 INVS 0 genome.wustl.edu 37 9 102988442 102988442 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 102988442 102988442 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known silent c.372 p.H124 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 53 0 0 62 9 12.6761 INVS 0 genome.wustl.edu 37 9 102988444 102988444 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 102988444 102988444 G T SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.374 p.R125M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 53 0 0 59 8 11.9403 TEX10 0 genome.wustl.edu 37 9 103111628 103111628 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 103111628 103111628 T C SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known silent c.18 p.K6 1.000 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 57 0 0 43 3 6.52174 BAAT 0 genome.wustl.edu 37 9 104124938 104124938 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 104124938 104124938 C A SNP BAAT ENST00000259407 human ensembl 74_37 -1 known missense c.1029 p.Q343H 0.086 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 152 0 0 147 10 6.36943 OR13C8 0 genome.wustl.edu 37 9 107331882 107331882 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 107331882 107331882 C T SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known missense c.434 p.A145V 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 134 0 0 135 19 12.3377 ABCA1 0 genome.wustl.edu 37 9 107550741 107550741 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 107550741 107550741 A G SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.6035 p.L2012P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 326 1 0.30581 281 17 5.7047 KIAA0368 0 genome.wustl.edu 37 9 114199319 114199319 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 114199319 114199319 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.1143 p.G381 0.061 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 176 0 0 130 26 16.6667 FKBP15 0 genome.wustl.edu 37 9 115945145 115945145 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 115945145 115945145 A G SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known silent c.1815 p.Y605 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 437 0 0 410 55 11.828 RBM18 0 genome.wustl.edu 37 9 125007550 125007550 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 125007550 125007550 G A SNP RBM18 ENST00000417201 human ensembl 74_37 -1 known missense c.398 p.T133I 0.477 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM18 HGNC ENSG00000119446 247 1 0.403226 204 18 8.10811 OR1L6 0 genome.wustl.edu 37 9 125512246 125512246 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 125512246 125512246 G A SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known silent c.228 p.A76 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 215 0 0 181 29 13.8095 RC3H2 0 genome.wustl.edu 37 9 125659721 125659721 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 125659721 125659721 T G SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.68 p.E23A 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 94 0 0 77 9 10.4651 RALGPS1 0 genome.wustl.edu 37 9 129974417 129974417 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 129974417 129974417 G A SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known missense c.1255 p.G419S 0.849 NULL pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 45 0 0 38 3 7.31707 C9orf117 0 genome.wustl.edu 37 9 130473600 130473600 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 130473600 130473600 C T SNP C9orf117 ENST00000373295 human ensembl 74_37 +1 known missense c.680 p.A227V 1.000 NULL NULL - no_errors C9orf117 HGNC ENSG00000160401 75 0 0 47 5 9.61538 ST6GALNAC6 0 genome.wustl.edu 37 9 130648823 130648823 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 130648823 130648823 C T SNP ST6GALNAC6 ENST00000373142 human ensembl 74_37 -1 putative silent c.1053 p.Q351 0.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 28 0 0 18 4 18.1818 ST6GALNAC6 0 genome.wustl.edu 37 9 130652960 130652960 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 130652960 130652960 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known missense c.660 p.M220I 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 78 0 0 76 9 10.5882 PIP5KL1 0 genome.wustl.edu 37 9 130687433 130687433 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 130687433 130687433 G A SNP PIP5KL1 ENST00000300432 human ensembl 74_37 -1 known silent c.261 p.H87 0.075 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 110 0 0 77 8 9.41176 GOLGA2 0 genome.wustl.edu 37 9 131023773 131023773 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 131023773 131023773 C A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.1211 p.S404I 0.845 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 208 0 0 186 25 11.8483 MPDZ 0 genome.wustl.edu 37 9 13107093 13107093 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 13107093 13107093 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.6084 p.D2028 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 245 0 0 230 46 16.6667 SPTAN1 0 genome.wustl.edu 37 9 131388889 131388889 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 131388889 131388889 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.6499 p.V2167I 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 48 0 0 29 6 17.1429 PKN3 0 genome.wustl.edu 37 9 131482844 131482844 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 131482844 131482844 C T SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.2629 p.R877W 0.997 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 60 0 0 45 3 6.25 ZER1 0 genome.wustl.edu 37 9 131503844 131503844 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 131503844 131503844 G A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known silent c.1707 p.N569 0.031 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 159 0 0 99 34 25.5639 NUP214 0 genome.wustl.edu 37 9 134073173 134073173 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 134073173 134073173 C T SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.4295 p.S1432F 0.120 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 220 0 0 160 27 14.4385 POMT1 0 genome.wustl.edu 37 9 134394318 134394318 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 134394318 134394318 A G SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.1526 p.N509S 0.685 superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 84 0 0 68 6 8.10811 TSC1 0 genome.wustl.edu 37 9 135771689 135771689 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 135771689 135771689 G A SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.3428 p.P1143L 0.530 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 225 0 0 186 24 11.4286 ABO 0 genome.wustl.edu 37 9 136131620 136131620 + RNA SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 136131620 136131620 G T SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ABO HGNC ENSG00000175164 37 0 0 23 5 17.8571 RPL7A 0 genome.wustl.edu 37 9 136218179 136218179 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 136218179 136218179 C T SNP RPL7A ENST00000323345 human ensembl 74_37 +1 known silent c.759 p.L253 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 46 0 0 30 4 11.7647 VAV2 0 genome.wustl.edu 37 9 136635517 136635517 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 136635517 136635517 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.2330 p.A777V 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 85 0 0 69 5 6.75676 SNAPC4 0 genome.wustl.edu 37 9 139272334 139272334 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 139272334 139272334 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.3945 p.S1315 0.025 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 54 0 0 36 5 12.1951 NOTCH1 0 genome.wustl.edu 37 9 139407497 139407497 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 139407497 139407497 A G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.2443 p.C815R 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 49 0 0 30 7 18.9189 RABL6 0 genome.wustl.edu 37 9 139726231 139726231 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 139726231 139726231 G A SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.517 p.V173M 1.000 pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 61 0 0 36 6 14.2857 FBXW5 0 genome.wustl.edu 37 9 139836576 139836576 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 139836576 139836576 C T SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.1018 p.E340K 0.992 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 18 0 0 16 5 23.8095 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 92 0 0 94 10 9.61538 MLLT3 0 genome.wustl.edu 37 9 20346569 20346569 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 20346569 20346569 C T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.1579 p.V527M 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 91 0 0 85 13 13.2653 IFNA16 0 genome.wustl.edu 37 9 21216926 21216926 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 21216926 21216926 C A SNP IFNA16 ENST00000380216 human ensembl 74_37 -1 known missense c.379 p.V127F 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 408 1 0.244499 306 93 23.3083 TEK 0 genome.wustl.edu 37 9 27157925 27157925 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 27157925 27157925 G A SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.149 p.R50H 0.081 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 179 1 0.555556 134 18 11.8421 LINGO2 0 genome.wustl.edu 37 9 27950565 27950565 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 27950565 27950565 A G SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.105 p.S35 0.525 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 135 0 0 111 11 9.01639 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 72 0 0 61 8 11.5942 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 108 0 0 89 6 6.31579 UNC13B 0 genome.wustl.edu 37 9 35396839 35396839 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 35396839 35396839 T C SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3190 p.W1064R 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 252 1 0.395257 198 25 11.2108 NPR2 0 genome.wustl.edu 37 9 35800819 35800819 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 35800819 35800819 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known silent c.1332 p.D444 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 97 0 0 80 13 13.9785 CCIN 0 genome.wustl.edu 37 9 36169823 36169823 + Silent SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 36169823 36169823 T G SNP CCIN ENST00000335119 human ensembl 74_37 +1 known silent c.324 p.A108 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like 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 111 0 0 107 16 13.0081 PTAR1 0 genome.wustl.edu 37 9 72347172 72347172 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 72347172 72347172 T C SNP PTAR1 ENST00000340434 human ensembl 74_37 -1 known silent c.525 p.R175 0.033 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 112 0 0 89 11 11 PTPRD 0 genome.wustl.edu 37 9 8465638 8465638 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 8465638 8465638 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3542 p.R1181H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 158 0 0 136 9 6.2069 PTPRD 0 genome.wustl.edu 37 9 8485893 8485893 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 8485893 8485893 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2924 p.A975V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 155 0 0 157 25 13.7363 PTPRD 0 genome.wustl.edu 37 9 8525005 8525005 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 8525005 8525005 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.599 p.S200F 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 382 0 0 300 25 7.69231 ZCCHC6 0 genome.wustl.edu 37 9 88967932 88967932 + Nonsense_Mutation SNP A A T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 88967932 88967932 A T SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known nonsense c.183 p.Y61* 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 391 0 0 288 92 24.2105 SHC3 0 genome.wustl.edu 37 9 91652990 91652990 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 91652990 91652990 G T SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1574 p.T525N 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 293 0 0 243 38 13.5231 IARS 0 genome.wustl.edu 37 9 95022511 95022511 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 95022511 95022511 C T SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.1793 p.G598D 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 154 0 0 126 9 6.66667 FGD3 0 genome.wustl.edu 37 9 95796864 95796864 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 95796864 95796864 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known silent c.1827 p.G609 0.190 superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,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 FGD3 HGNC ENSG00000127084 119 0 0 83 9 9.78261 FGD3 0 genome.wustl.edu 37 9 95797867 95797867 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 95797867 95797867 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.2174 p.P725L 0.032 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,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 FGD3 HGNC ENSG00000127084 49 0 0 48 5 9.43396 FBP1 0 genome.wustl.edu 37 9 97369155 97369155 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 97369155 97369155 T C SNP FBP1 ENST00000375326 human ensembl 74_37 -1 known missense c.647 p.Y216C 1.000 pfam_FBPase_class-1/SBPase,prints_FBPtase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP1 HGNC ENSG00000165140 106 0 0 93 6 6.06061 PTCH1 0 genome.wustl.edu 37 9 98239102 98239102 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 98239102 98239102 T C SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1541 p.D514G 1.000 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 42 0 0 41 8 16.3265 XKRX 0 genome.wustl.edu 37 X 100183185 100183185 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 100183185 100183185 T C SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.148 p.I50V 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 288 0 0 242 34 12.3188 TAF7L 0 genome.wustl.edu 37 X 100532688 100532688 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 100532688 100532688 T C SNP TAF7L ENST00000372907 human ensembl 74_37 -1 known silent c.855 p.E285 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 337 2 0.589971 246 42 14.5833 WWC3 0 genome.wustl.edu 37 X 10077957 10077957 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 10077957 10077957 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.871 p.R291C 0.265 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 136 0 0 98 10 9.25926 BHLHB9 0 genome.wustl.edu 37 X 102004166 102004166 + Silent SNP G G C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 102004166 102004166 G C SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known silent c.243 p.L81 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 103 0 0 88 22 20 CLCN4 0 genome.wustl.edu 37 X 10201604 10201604 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 10201604 10201604 G A SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.2263 p.E755K 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 159 0 0 145 16 9.93789 MORF4L2 0 genome.wustl.edu 37 X 102931578 102931578 + Silent SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 102931578 102931578 A C SNP MORF4L2 ENST00000360458 human ensembl 74_37 -1 known silent c.378 p.P126 0.993 pfam_MRG_dom,superfamily_Chromodomain-like pfam_MRG_dom,superfamily_Chromodomain-like - no_errors MORF4L2 HGNC ENSG00000123562 627 0 0 519 54 9.42408 TBC1D8B 0 genome.wustl.edu 37 X 106070451 106070451 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 106070451 106070451 A G SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.1087 p.I363V 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 351 0 0 364 46 11.2195 IRS4 0 genome.wustl.edu 37 X 107977613 107977613 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 107977613 107977613 T C SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.1962 p.R654 0.068 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 622 0 0 540 71 11.6203 GUCY2F 0 genome.wustl.edu 37 X 108631747 108631747 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 108631747 108631747 G A SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.2927 p.P976L 0.992 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 315 0 0 269 70 20.649 PAK3 0 genome.wustl.edu 37 X 110406208 110406208 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 110406208 110406208 A G SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known silent c.642 p.E214 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 231 0 0 176 27 13.3005 LHFPL1 0 genome.wustl.edu 37 X 111914340 111914340 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 111914340 111914340 A G SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known silent c.279 p.A93 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 118 0 0 107 20 15.748 MSL3 0 genome.wustl.edu 37 X 11783634 11783634 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 11783634 11783634 G A SNP MSL3 ENST00000312196 human ensembl 74_37 +1 known silent c.957 p.T319 0.947 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 221 0 0 209 27 11.4407 ZBTB33 0 genome.wustl.edu 37 X 119388799 119388799 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 119388799 119388799 G A SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.1529 p.R510Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 301 0 0 226 49 17.8182 GLUD2 0 genome.wustl.edu 37 X 120181966 120181966 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 120181966 120181966 G A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.428 p.R143H 1.000 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 97 0 0 89 12 11.8812 TENM1 0 genome.wustl.edu 37 X 124029834 124029834 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 124029834 124029834 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.474 p.E158D 0.992 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 307 0 0 242 63 20.6557 DCAF12L1 0 genome.wustl.edu 37 X 125685832 125685832 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 125685832 125685832 G T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.760 p.P254T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 108 0 0 64 7 9.85915 XPNPEP2 0 genome.wustl.edu 37 X 128879210 128879210 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 128879210 128879210 G A SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known missense c.266 p.R89H 0.903 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 70 0 0 66 6 8.33333 RAB33A 0 genome.wustl.edu 37 X 129318542 129318542 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 129318542 129318542 C T SNP RAB33A ENST00000257017 human ensembl 74_37 +1 known missense c.542 p.S181L 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 143 0 0 137 26 15.9509 ZNF280C 0 genome.wustl.edu 37 X 129380906 129380906 + Missense_Mutation SNP T T G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 129380906 129380906 T G SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known missense c.105 p.E35D 0.761 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 511 0 0 403 51 11.2335 PHF6 0 genome.wustl.edu 37 X 133551319 133551319 + Nonsense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 133551319 133551319 C T SNP PHF6 ENST00000394292 human ensembl 74_37 +1 known nonsense c.958 p.R320* 1.000 smart_Znf_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 155 0 0 122 14 10.2941 SAGE1 0 genome.wustl.edu 37 X 134989196 134989196 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 134989196 134989196 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.848 p.G283D 0.009 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 161 0 0 141 9 6 FHL1 0 genome.wustl.edu 37 X 135290003 135290003 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 135290003 135290003 C A SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known silent c.384 p.T128 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 139 0 0 115 19 14.1791 FGF13 0 genome.wustl.edu 37 X 137717647 137717647 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 137717647 137717647 G A SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.602 p.A201V 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 328 0 0 318 34 9.65909 CDR1 0 genome.wustl.edu 37 X 139866222 139866222 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 139866222 139866222 C T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.310 p.D104N 0.000 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 245 0 0 167 53 24.0909 MAGEC3 0 genome.wustl.edu 37 X 140926121 140926121 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 140926121 140926121 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.20 p.W7L 0.026 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 88 0 0 83 10 10.7527 MAGEC3 0 genome.wustl.edu 37 X 140953268 140953268 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 140953268 140953268 G A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known silent c.135 p.K45 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 144 0 0 117 9 7.14286 MAGEC1 0 genome.wustl.edu 37 X 140993585 140993585 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 140993585 140993585 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.395 p.A132V 0.991 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 277 1 0.359712 183 45 19.7368 MAGEC1 0 genome.wustl.edu 37 X 140996354 140996354 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 140996354 140996354 A G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3164 p.E1055G 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 261 0 0 211 55 20.6767 AFF2 0 genome.wustl.edu 37 X 148037708 148037708 + Silent SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 148037708 148037708 T C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.2133 p.I711 0.994 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 269 0 0 212 27 11.2971 FANCB 0 genome.wustl.edu 37 X 14876021 14876021 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 14876021 14876021 C T SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.1160 p.R387H 0.001 NULL NULL - no_errors FANCB HGNC ENSG00000181544 330 0 0 261 25 8.74126 MAGEA11 0 genome.wustl.edu 37 X 148797293 148797293 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 148797293 148797293 C T SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known silent c.222 p.D74 0.019 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 317 1 0.314465 234 24 9.30233 GABRE 0 genome.wustl.edu 37 X 151138713 151138713 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 151138713 151138713 C T SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.218 p.R73H 0.009 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 388 0 0 290 33 10.2167 HAUS7 0 genome.wustl.edu 37 X 152722663 152722663 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 152722663 152722663 C T SNP HAUS7 ENST00000370212 human ensembl 74_37 -1 known silent c.408 p.Q136 0.844 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 60 0 0 46 5 9.80392 DUSP9 0 genome.wustl.edu 37 X 152915490 152915490 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 152915490 152915490 C T SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known silent c.885 p.S295 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 383 0 0 287 32 10.0313 PDZD4 0 genome.wustl.edu 37 X 153068923 153068923 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 153068923 153068923 C T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.2195 p.R732Q 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 96 0 0 47 16 25.3968 TKTL1 0 genome.wustl.edu 37 X 153537725 153537725 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 153537725 153537725 G A SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.281 p.G94E 0.995 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 529 0 0 419 32 7.09534 FLNA 0 genome.wustl.edu 37 X 153592920 153592920 + Missense_Mutation SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 153592920 153592920 C A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.1996 p.A666S 0.984 superfamily_Ig_E-set,smart_Filamin pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 110 0 0 71 4 5.33333 ATP6AP1 0 genome.wustl.edu 37 X 153664118 153664118 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 153664118 153664118 A G SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known missense c.1294 p.T432A 0.969 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 521 0 0 377 44 10.4513 FUNDC2 0 genome.wustl.edu 37 X 154279963 154279963 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 154279963 154279963 T C SNP FUNDC2 ENST00000369498 human ensembl 74_37 +1 known missense c.379 p.Y127H 0.959 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 90 0 0 79 7 8.13953 GRPR 0 genome.wustl.edu 37 X 16170760 16170760 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 16170760 16170760 T C SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.1147 p.Y383H 0.997 prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 366 0 0 339 38 10.0796 GYG2 0 genome.wustl.edu 37 X 2795350 2795350 + Splice_Site SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 2795350 2795350 T C SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known splice_site c.1344+2 e10+2 0.363 - - - no_errors GYG2 HGNC ENSG00000056998 51 0 0 44 5 10.2041 MAGEB3 0 genome.wustl.edu 37 X 30254158 30254158 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 30254158 30254158 C A SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known silent c.117 p.S39 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 97 0 0 59 11 15.7143 FAM47B 0 genome.wustl.edu 37 X 34961414 34961414 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 34961414 34961414 G A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.466 p.E156K 0.116 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 89 0 0 81 10 10.989 BCOR 0 genome.wustl.edu 37 X 39911559 39911559 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 39911559 39911559 T C SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.5071 p.T1691A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 113 1 0.877193 86 16 15.6863 DDX3X 0 genome.wustl.edu 37 X 41203054 41203054 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 41203054 41203054 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known silent c.744 p.G248 0.227 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 143 0 0 148 19 11.3772 DDX3X 0 genome.wustl.edu 37 X 41203302 41203302 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 41203302 41203302 G A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.785 p.R262H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 41 0 0 52 5 8.77193 DDX3X 0 genome.wustl.edu 37 X 41206134 41206134 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 41206134 41206134 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known silent c.1638 p.N546 0.999 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 220 0 0 190 35 15.5556 CDK16 0 genome.wustl.edu 37 X 47086419 47086419 + Missense_Mutation SNP G G T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 47086419 47086419 G T SNP CDK16 ENST00000276052 human ensembl 74_37 +1 known missense c.1384 p.G462C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK16 HGNC ENSG00000102225 65 0 0 32 3 8.57143 USP11 0 genome.wustl.edu 37 X 47101688 47101688 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 47101688 47101688 C T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.1516 p.R506C 0.969 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 44 0 0 28 5 15.1515 ZNF81 0 genome.wustl.edu 37 X 47774787 47774787 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 47774787 47774787 C T SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.742 p.R248C 0.398 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 ZNF81 HGNC ENSG00000197779 140 0 0 117 14 10.687 PPP1R3F 0 genome.wustl.edu 37 X 49137887 49137887 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 49137887 49137887 G A SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known silent c.1023 p.L341 0.971 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 29 0 0 29 5 14.7059 MAGED1 0 genome.wustl.edu 37 X 51639696 51639696 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 51639696 51639696 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known silent c.1113 p.Q371 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 74 0 0 41 7 14.5833 VSIG4 0 genome.wustl.edu 37 X 65242699 65242699 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 65242699 65242699 C T SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known missense c.946 p.V316I 0.818 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 68 0 0 67 4 5.6338 STARD8 0 genome.wustl.edu 37 X 67941416 67941416 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 67941416 67941416 G A SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2287 p.A763T 0.998 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 91 0 0 64 6 8.57143 EFNB1 0 genome.wustl.edu 37 X 68060286 68060286 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 68060286 68060286 C T SNP EFNB1 ENST00000204961 human ensembl 74_37 +1 known missense c.830 p.A277V 0.996 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 40 0 0 30 5 14.2857 AWAT1 0 genome.wustl.edu 37 X 69455639 69455639 + Silent SNP C C A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 69455639 69455639 C A SNP AWAT1 ENST00000374521 human ensembl 74_37 +1 known silent c.150 p.A50 0.829 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 273 0 0 254 23 8.30325 GDPD2 0 genome.wustl.edu 37 X 69647041 69647041 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 69647041 69647041 A G SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known missense c.757 p.T253A 0.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 195 0 0 131 21 13.8158 DLG3 0 genome.wustl.edu 37 X 69719080 69719080 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 69719080 69719080 A G SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.2021 p.D674G 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 126 0 0 75 11 12.7907 MED12 0 genome.wustl.edu 37 X 70349624 70349624 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70349624 70349624 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.3786 p.R1262 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 33 0 0 20 7 25.9259 NLGN3 0 genome.wustl.edu 37 X 70367985 70367985 + Missense_Mutation SNP T T A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70367985 70367985 T A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.386 p.I129N 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 94 0 0 86 11 11.3402 ZMYM3 0 genome.wustl.edu 37 X 70462271 70462271 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70462271 70462271 G A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.3557 p.T1186M 0.892 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 44 0 0 39 6 13.3333 ITGB1BP2 0 genome.wustl.edu 37 X 70522261 70522261 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70522261 70522261 G A SNP ITGB1BP2 ENST00000373829 human ensembl 74_37 +1 known missense c.172 p.G58S 1.000 pfam_CHORD pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors ITGB1BP2 HGNC ENSG00000147166 171 1 0.581395 140 16 10.2564 TAF1 0 genome.wustl.edu 37 X 70618474 70618474 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70618474 70618474 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.3670 p.R1224W 0.996 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 101 0 0 69 10 12.6582 ACRC 0 genome.wustl.edu 37 X 70823685 70823685 + Silent SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70823685 70823685 G A SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.558 p.S186 0.031 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 509 0 0 468 56 10.687 PHKA1 0 genome.wustl.edu 37 X 71856206 71856206 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 71856206 71856206 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.1490 p.R497Q 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 137 0 0 137 10 6.80272 XIST 0 genome.wustl.edu 37 X 73042782 73042782 + RNA SNP A A C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 73042782 73042782 A C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 213 0 0 134 25 15.7233 ZDHHC15 0 genome.wustl.edu 37 X 74649028 74649028 + Missense_Mutation SNP T T C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 74649028 74649028 T C SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known missense c.488 p.N163S 1.000 pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 106 0 0 68 26 27.6596 MAGEE1 0 genome.wustl.edu 37 X 75649389 75649389 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 75649389 75649389 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1066 p.V356I 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 45 0 0 31 3 8.82353 MAGT1 0 genome.wustl.edu 37 X 77112976 77112976 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 77112976 77112976 G A SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known missense c.505 p.P169S 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 198 0 0 151 49 24.5 PGK1 0 genome.wustl.edu 37 X 77372817 77372817 + Silent SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 77372817 77372817 C T SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known silent c.426 p.A142 0.155 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 113 0 0 85 8 8.60215 TBX22 0 genome.wustl.edu 37 X 79277874 79277874 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 79277874 79277874 C T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.106 p.R36W 0.061 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 48 0 0 24 5 17.2414 CYLC1 0 genome.wustl.edu 37 X 83129420 83129420 + Silent SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 83129420 83129420 A G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.1704 p.S568 0.002 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 74 0 0 57 12 17.3913 PCDH11X 0 genome.wustl.edu 37 X 91133016 91133016 + Missense_Mutation SNP A A G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 91133016 91133016 A G SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1777 p.T593A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 184 0 0 166 20 10.7527 PCDH11X 0 genome.wustl.edu 37 X 91133119 91133119 + Missense_Mutation SNP C C G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 91133119 91133119 C G SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1880 p.P627R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 124 0 0 94 20 17.5439 SHROOM2 0 genome.wustl.edu 37 X 9912766 9912766 + Missense_Mutation SNP C C T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 9912766 9912766 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.4397 p.T1466I 0.436 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 55 0 0 53 6 10.1695 PCDH19 0 genome.wustl.edu 37 X 99662949 99662949 + Missense_Mutation SNP G G A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 99662949 99662949 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.647 p.P216L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 177 0 0 139 24 14.7239 GPR61 0 genome.wustl.edu 37 1 110086217 110086217 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 110086217 110086217 C - DEL GPR61 ENST00000404129 human ensembl 74_37 +1 known frame_shift_del c.573 p.P193fs 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 160 0 0 135 12 8.16327 MTOR 0 genome.wustl.edu 37 1 11294235 11294235 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 11294235 11294235 G - DEL MTOR ENST00000361445 human ensembl 74_37 -1 known frame_shift_del c.2296 p.R766fs 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 220 0 0 195 21 9.72222 SPAG17 0 genome.wustl.edu 37 1 118526506 118526507 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 118526506 118526507 - T INS SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_ins c.5800_5799 p.L1933fs 0.996:0.994 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 102 0 0 83 9 9.78261 SPRR4 0 genome.wustl.edu 37 1 152944454 152944454 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 152944454 152944454 C - DEL SPRR4 ENST00000328051 human ensembl 74_37 +1 known frame_shift_del c.88 p.P31fs 0.996 pfam_Cornifin pfam_Cornifin - no_errors SPRR4 HGNC ENSG00000184148 196 0 0 157 11 6.54762 RUSC1 0 genome.wustl.edu 37 1 155297994 155297994 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155297994 155297994 G - DEL RUSC1 ENST00000368352 human ensembl 74_37 +1 known frame_shift_del c.2468 p.A825fs 0.958 superfamily_SH3_domain pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 245 0 0 227 22 8.83534 DAP3 0 genome.wustl.edu 37 1 155691351 155691351 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155691351 155691351 C - DEL DAP3 ENST00000343043 human ensembl 74_37 +1 known frame_shift_del c.212 p.Q73fs 0.387 superfamily_P-loop_NTPase pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 169 0 0 145 13 8.22785 GON4L 0 genome.wustl.edu 37 1 155736390 155736390 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 155736390 155736390 T - DEL GON4L ENST00000368331 human ensembl 74_37 -1 known frame_shift_del c.2874 p.D959fs 0.007 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 175 0 0 144 12 7.69231 APOA1BP 0 genome.wustl.edu 37 1 156562162 156562163 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 156562162 156562163 - C INS APOA1BP ENST00000368235 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.T101fs 0.999:1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 109 0 0 104 12 10.3448 IFI16 0 genome.wustl.edu 37 1 158984717 158984717 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 158984717 158984717 A - DEL IFI16 ENST00000295809 human ensembl 74_37 +1 known frame_shift_del c.247 p.E85fs 0.000 superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 137 0 0 109 10 8.40336 ALDH9A1 0 genome.wustl.edu 37 1 165638217 165638218 + Frame_Shift_Ins INS - - AT TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 165638217 165638218 - AT INS ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known frame_shift_ins c.1153_1152 p.V384fs 0.519:0.149 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 189 0 0 168 19 10.1604 ELF3 0 genome.wustl.edu 37 1 201981267 201981268 + Frame_Shift_Ins INS - - CT TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 201981267 201981268 - CT INS ELF3 ENST00000359651 human ensembl 74_37 +1 known frame_shift_ins c.346_347 p.G118fs 1.000:1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 71 0 0 46 11 19.2982 RASSF5 0 genome.wustl.edu 37 1 206757987 206757987 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 206757987 206757987 T - DEL RASSF5 ENST00000355294 human ensembl 74_37 +1 known frame_shift_del c.959 p.F321fs 0.994 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 104 0 0 95 10 9.52381 CR1L 0 genome.wustl.edu 37 1 207867814 207867814 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 207867814 207867814 A - DEL CR1L ENST00000508064 human ensembl 74_37 +1 known frame_shift_del c.580 p.K195fs 0.000 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 CR1L HGNC ENSG00000197721 370 0 0 292 17 5.50162 CENPF 0 genome.wustl.edu 37 1 214830653 214830653 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 214830653 214830653 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.8863 p.S2957fs 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 111 0 0 84 12 12.5 RAB4A 0 genome.wustl.edu 37 1 229422305 229422305 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 229422305 229422305 A - DEL RAB4A ENST00000366690 human ensembl 74_37 +1 known frame_shift_del c.104 p.K37fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4A HGNC ENSG00000168118 65 0 0 52 5 8.77193 CAPN9 0 genome.wustl.edu 37 1 230916357 230916357 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 230916357 230916357 C - DEL CAPN9 ENST00000271971 human ensembl 74_37 +1 known frame_shift_del c.1384 p.P463fs 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 358 0 0 259 25 8.80282 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 237969494 237969494 T - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.14227 p.F4745fs 1.000 pfam_Ion_trans_dom 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 103 0 0 100 11 9.90991 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 89 0 0 94 6 6 CHML 0 genome.wustl.edu 37 1 241798054 241798055 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 241798054 241798055 - A INS CHML ENST00000366553 human ensembl 74_37 -1 known frame_shift_ins c.1015_1014 p.V338fs 0.025:0.926 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 282 0 0 263 17 6.07143 EXO1 0 genome.wustl.edu 37 1 242048759 242048759 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 242048759 242048759 G - DEL EXO1 ENST00000348581 human ensembl 74_37 +1 known frame_shift_del c.2355 p.L787fs 0.793 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 119 0 0 102 8 7.27273 ACTRT2 0 genome.wustl.edu 37 1 2939155 2939156 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 2939155 2939156 - G INS ACTRT2 ENST00000378404 human ensembl 74_37 +1 known frame_shift_ins c.905_906 p.T305fs 1.000:0.003 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 163 0 0 126 13 9.35252 KIAA1522 0 genome.wustl.edu 37 1 33235814 33235814 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 33235814 33235814 C - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.1034 p.Q347fs 1.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 94 0 0 89 6 6.31579 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 192 0 0 143 8 5.29801 MACF1 0 genome.wustl.edu 37 1 39908391 39908391 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 39908391 39908391 A - DEL MACF1 ENST00000317713 human ensembl 74_37 +1 known frame_shift_del c.12933 p.N4313fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 58 0 0 72 8 10 KDM4A 0 genome.wustl.edu 37 1 44156565 44156565 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 44156565 44156565 C - DEL KDM4A ENST00000372396 human ensembl 74_37 +1 known frame_shift_del c.2087 p.Q698fs 0.014 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 438 0 0 429 53 10.9959 SYDE2 0 genome.wustl.edu 37 1 85634870 85634872 + In_Frame_Del DEL GAG GAG - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 85634870 85634872 GAG - DEL SYDE2 ENST00000341460 human ensembl 74_37 -1 known in_frame_del c.2710_2708 p.P903in_frame_del 0.999:0.988:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 231 0 0 257 17 6.20438 SLC25A33 0 genome.wustl.edu 37 1 9640225 9640225 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 1 9640225 9640225 T - DEL SLC25A33 ENST00000302692 human ensembl 74_37 +1 known frame_shift_del c.696 p.F234fs 0.141 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A33 HGNC ENSG00000171612 225 0 0 242 16 6.20155 TMEM180 0 genome.wustl.edu 37 10 104235541 104235541 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 104235541 104235541 C - DEL TMEM180 ENST00000238936 human ensembl 74_37 +1 known frame_shift_del c.1354 p.P453fs 1.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 99 0 0 89 8 8.24742 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 154 0 0 119 10 7.75194 TACC2 0 genome.wustl.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 123844356 123844356 C - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.2341 p.Q783fs 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 136 0 0 139 12 7.94702 FANK1 0 genome.wustl.edu 37 10 127697969 127697969 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 127697969 127697969 A - DEL FANK1 ENST00000368693 human ensembl 74_37 +1 known frame_shift_del c.1000 p.K336fs 0.022 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 105 0 0 106 14 11.6667 HSPA14 0 genome.wustl.edu 37 10 14891795 14891795 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 14891795 14891795 A - DEL HSPA14 ENST00000378372 human ensembl 74_37 +1 known frame_shift_del c.452 p.N153fs 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 103 0 0 91 5 5.20833 ST8SIA6 0 genome.wustl.edu 37 10 17363321 17363321 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 17363321 17363321 T - DEL ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_del c.753 p.A252fs 0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 117 0 0 124 11 8.14815 ANKRD26 0 genome.wustl.edu 37 10 27322259 27322259 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 27322259 27322259 T - DEL ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_del c.3750 p.K1250fs 0.005 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 144 0 0 148 17 10.303 DRGX 0 genome.wustl.edu 37 10 50594774 50594774 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 50594774 50594774 G - DEL DRGX ENST00000434016 human ensembl 74_37 -1 known frame_shift_del c.380 p.P127fs 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DRGX HGNC ENSG00000165606 147 0 0 87 11 11.2245 CSTF2T 0 genome.wustl.edu 37 10 53457522 53457523 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 53457522 53457523 - G INS CSTF2T ENST00000331173 human ensembl 74_37 -1 known frame_shift_ins c.1788_1787 p.E597fs 0.763:0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 138 0 0 158 12 7.05882 ARID5B 0 genome.wustl.edu 37 10 63850705 63850705 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 63850705 63850705 A - DEL ARID5B ENST00000279873 human ensembl 74_37 +1 known frame_shift_del c.1483 p.I497fs 0.987 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 132 0 0 108 6 5.26316 PPA1 0 genome.wustl.edu 37 10 71969022 71969022 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 71969022 71969022 T - DEL PPA1 ENST00000373232 human ensembl 74_37 -1 known frame_shift_del c.664 p.S222fs 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 136 0 0 132 13 8.96552 POLR3A 0 genome.wustl.edu 37 10 79778980 79778980 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 79778980 79778980 T - DEL POLR3A ENST00000372371 human ensembl 74_37 -1 known frame_shift_del c.1229 p.N410fs 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 261 0 0 240 15 5.88235 PTEN 0 genome.wustl.edu 37 10 89717769 89717770 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 89717769 89717770 - A INS PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_ins c.794_795 p.D268fs 1.000:0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 136 0 0 112 24 17.6471 PIK3AP1 0 genome.wustl.edu 37 10 98362066 98362066 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 10 98362066 98362066 G - DEL PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known frame_shift_del c.2331 p.R778fs 0.998 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 104 0 0 70 16 18.6047 TRPC6 0 genome.wustl.edu 37 11 101353747 101353747 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 101353747 101353747 T - DEL TRPC6 ENST00000344327 human ensembl 74_37 -1 known frame_shift_del c.1443 p.K481fs 0.877 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 269 0 0 235 22 8.56031 C11orf70 0 genome.wustl.edu 37 11 101937275 101937275 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 101937275 101937275 T - DEL C11orf70 ENST00000434758 human ensembl 74_37 +1 known frame_shift_del c.328 p.H112fs 1.000 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 170 0 0 161 18 10.0559 ACAT1 0 genome.wustl.edu 37 11 108004588 108004588 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 108004588 108004588 T - DEL ACAT1 ENST00000265838 human ensembl 74_37 +1 known frame_shift_del c.162 p.L56fs 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 172 0 0 149 14 8.58896 RDX 0 genome.wustl.edu 37 11 110104137 110104137 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 110104137 110104137 G - DEL RDX ENST00000530749 human ensembl 74_37 -1 known frame_shift_del c.1412 p.P471fs 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_N pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 262 0 0 235 25 9.61538 USP28 0 genome.wustl.edu 37 11 113699985 113699985 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 113699985 113699985 T - DEL USP28 ENST00000003302 human ensembl 74_37 -1 known frame_shift_del c.993 p.A333fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 134 0 0 122 12 8.95522 SORL1 0 genome.wustl.edu 37 11 121393396 121393398 + In_Frame_Del DEL CCT CCT - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 121393396 121393398 CCT - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known in_frame_del c.1506_1508 p.L503in_frame_del 0.151:1.000:1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 301 0 0 229 31 11.9231 TH 0 genome.wustl.edu 37 11 2189856 2189857 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 2189856 2189857 - G INS TH ENST00000381178 human ensembl 74_37 -1 known frame_shift_ins c.445_444 p.A148fs 0.001:0.000 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 21 0 0 20 4 16.6667 DCDC1 0 genome.wustl.edu 37 11 31287072 31287072 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 31287072 31287072 T - DEL DCDC1 ENST00000452803 human ensembl 74_37 -1 known frame_shift_del c.1036 p.I346fs 1.000 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 124 0 0 111 12 9.7561 QSER1 0 genome.wustl.edu 37 11 32954322 32954322 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 32954322 32954322 T - DEL QSER1 ENST00000399302 human ensembl 74_37 +1 known frame_shift_del c.1131 p.S379fs 0.999 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 278 0 0 267 22 7.61246 PRDM11 0 genome.wustl.edu 37 11 45204461 45204461 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 45204461 45204461 C - DEL PRDM11 ENST00000263765 human ensembl 74_37 +1 known frame_shift_del c.375 p.P127fs 0.921 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 127 0 0 80 8 9.09091 AGBL2 0 genome.wustl.edu 37 11 47689211 47689211 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 47689211 47689211 T - DEL AGBL2 ENST00000357610 human ensembl 74_37 -1 known frame_shift_del c.2258 p.K753fs 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 142 0 0 132 15 10.2041 OR4P4 0 genome.wustl.edu 37 11 55406142 55406142 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 55406142 55406142 T - DEL OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_del c.309 p.F105fs 0.097 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 287 0 0 238 27 10.1887 MYRF 0 genome.wustl.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 61539013 61539013 C - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.782 p.S264fs 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 186 0 0 147 18 10.9091 ROM1 0 genome.wustl.edu 37 11 62381819 62381819 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 62381819 62381819 A - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.680 p.N228fs 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 246 0 0 210 28 11.7647 ATG2A 0 genome.wustl.edu 37 11 64662599 64662599 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 64662599 64662599 C - DEL ATG2A ENST00000421419 human ensembl 74_37 -1 known frame_shift_del c.5669 p.G1890fs 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 46 0 0 55 5 8.33333 PELI3 0 genome.wustl.edu 37 11 66235631 66235631 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 66235631 66235631 C - DEL PELI3 ENST00000320740 human ensembl 74_37 +1 known frame_shift_del c.32 p.R13fs 1.000 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 130 0 0 77 5 6.09756 UVRAG 0 genome.wustl.edu 37 11 75694431 75694431 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 75694431 75694431 A - DEL UVRAG ENST00000356136 human ensembl 74_37 +1 known frame_shift_del c.700 p.S237fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 44 0 0 36 6 14.2857 FOLR4 0 genome.wustl.edu 37 11 94039838 94039839 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 11 94039838 94039839 - C INS FOLR4 ENST00000440961 human ensembl 74_37 +1 novel frame_shift_ins c.298_299 p.N102fs 1.000:1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 103 0 0 92 19 17.1171 FAM216A 0 genome.wustl.edu 37 12 110924425 110924426 + Frame_Shift_Del DEL GA GA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 110924425 110924426 GA - DEL FAM216A ENST00000377673 human ensembl 74_37 +1 known frame_shift_del c.523_524 p.E177fs 0.998:0.985 NULL NULL - no_errors FAM216A HGNC ENSG00000204856 356 0 0 280 31 9.96785 OAS2 0 genome.wustl.edu 37 12 113435331 113435331 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 113435331 113435331 A - DEL OAS2 ENST00000342315 human ensembl 74_37 +1 known frame_shift_del c.634 p.I214fs 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 117 0 0 117 13 10 LRRC43 0 genome.wustl.edu 37 12 122685346 122685346 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 122685346 122685346 C - DEL LRRC43 ENST00000339777 human ensembl 74_37 +1 known frame_shift_del c.1674 p.I561fs 0.997 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 64 0 0 59 8 11.9403 DNAH10 0 genome.wustl.edu 37 12 124326065 124326065 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 124326065 124326065 T - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.4979 p.F1661fs 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 70 0 0 68 8 10.5263 DNAH10 0 genome.wustl.edu 37 12 124411219 124411219 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 124411219 124411219 T - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.11603 p.F3869fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 117 0 0 89 6 6.31579 GRIN2B 0 genome.wustl.edu 37 12 14019044 14019044 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 14019044 14019044 G - DEL GRIN2B ENST00000609686 human ensembl 74_37 -1 known frame_shift_del c.99 p.S34fs 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 108 0 0 91 8 8.08081 ATF7IP 0 genome.wustl.edu 37 12 14613758 14613758 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 14613758 14613758 A - DEL ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_del c.2488 p.N831fs 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 257 0 0 260 25 8.77193 ATF7IP 0 genome.wustl.edu 37 12 14631255 14631256 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 14631255 14631256 - A INS ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_ins c.2946_2947 p.L984fs 0.987:1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 234 0 0 226 31 12.0623 PLEKHA5 0 genome.wustl.edu 37 12 19514518 19514518 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 19514518 19514518 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.3177 p.T1062fs 0.273 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 34 0 0 34 7 17.0732 FOXM1 0 genome.wustl.edu 37 12 2968088 2968088 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 2968088 2968088 G - DEL FOXM1 ENST00000342628 human ensembl 74_37 -1 known frame_shift_del c.2122 p.E709fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 146 0 0 131 12 8.39161 KMT2D 0 genome.wustl.edu 37 12 49445203 49445203 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 49445203 49445203 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.2263 p.R755fs 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 39 0 0 33 6 15.3846 TENC1 0 genome.wustl.edu 37 12 53453399 53453399 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 53453399 53453399 G - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.2004 p.K670fs 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 102 0 0 82 9 9.89011 AAAS 0 genome.wustl.edu 37 12 53701679 53701679 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 53701679 53701679 G - DEL AAAS ENST00000209873 human ensembl 74_37 -1 known frame_shift_del c.1366 p.Q456fs 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 145 0 0 114 10 8.06452 RPS26 0 genome.wustl.edu 37 12 56437254 56437254 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 56437254 56437254 C - DEL RPS26 ENST00000356464 human ensembl 74_37 +1 known frame_shift_del c.289 p.P98fs 1.000 pfam_Ribosomal_S26e pfam_Ribosomal_S26e - no_errors RPS26 HGNC ENSG00000197728 139 0 0 134 10 6.94444 USP15 0 genome.wustl.edu 37 12 62786091 62786091 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 62786091 62786091 A - DEL USP15 ENST00000280377 human ensembl 74_37 +1 known frame_shift_del c.2344 p.K783fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 99 0 0 75 10 11.7647 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 196 0 0 179 16 8.20513 RAB3IP 0 genome.wustl.edu 37 12 70206762 70206762 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 70206762 70206762 T - DEL RAB3IP ENST00000550536 human ensembl 74_37 +1 known frame_shift_del c.1297 p.F434fs 1.000 NULL pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 266 0 0 229 27 10.5469 KRR1 0 genome.wustl.edu 37 12 75893593 75893593 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 75893593 75893593 T - DEL KRR1 ENST00000229214 human ensembl 74_37 -1 known frame_shift_del c.1142 p.K381fs 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 120 0 0 114 21 15.5556 SLC6A15 0 genome.wustl.edu 37 12 85279790 85279790 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 85279790 85279790 A - DEL SLC6A15 ENST00000266682 human ensembl 74_37 -1 known frame_shift_del c.347 p.F116fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 169 0 0 151 8 5.03145 MGAT4C 0 genome.wustl.edu 37 12 86373330 86373330 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 12 86373330 86373330 T - DEL MGAT4C ENST00000393205 human ensembl 74_37 -1 known frame_shift_del c.1261 p.I421fs 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 73 0 0 64 7 9.85915 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 63 0 0 60 8 11.7647 CDX2 0 genome.wustl.edu 37 13 28537277 28537278 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 28537277 28537278 - C INS CDX2 ENST00000381020 human ensembl 74_37 -1 known frame_shift_ins c.917_916 p.V306fs 0.999:0.992 NULL pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 87 0 0 82 6 6.81818 PDS5B 0 genome.wustl.edu 37 13 33315227 33315227 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 33315227 33315227 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.2416 p.K807fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 120 0 0 114 10 8.06452 SPG20 0 genome.wustl.edu 37 13 36909271 36909272 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 36909271 36909272 - A INS SPG20 ENST00000355182 human ensembl 74_37 -1 known frame_shift_ins c.697_696 p.V232fs 1.000:1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 157 0 0 140 12 7.89474 TRPC4 0 genome.wustl.edu 37 13 38211583 38211583 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 38211583 38211583 A - DEL TRPC4 ENST00000379681 human ensembl 74_37 -1 known frame_shift_del c.2406 p.F802fs 0.998 prints_TRPC4_channel 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 219 0 0 170 22 11.4583 NAA16 0 genome.wustl.edu 37 13 41941577 41941577 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 41941577 41941577 T - DEL NAA16 ENST00000379406 human ensembl 74_37 +1 known frame_shift_del c.1542 p.F516fs 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 136 0 0 105 22 17.3228 SETDB2 0 genome.wustl.edu 37 13 50065970 50065970 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 50065970 50065970 A - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.2145 p.I718fs 0.859 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 134 0 0 94 11 10.4762 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 109 0 0 104 11 9.56522 FARP1 0 genome.wustl.edu 37 13 99092237 99092237 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 13 99092237 99092237 G - DEL FARP1 ENST00000376586 human ensembl 74_37 +1 known frame_shift_del c.2549 p.V852fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 418 0 0 319 33 9.375 WDR20 0 genome.wustl.edu 37 14 102675303 102675304 + Frame_Shift_Ins INS - - TG TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 102675303 102675304 - TG INS WDR20 ENST00000454394 human ensembl 74_37 +1 known frame_shift_ins c.889_890 p.C301fs 1.000:1.000 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 - no_errors WDR20 HGNC ENSG00000140153 103 0 0 80 6 6.97674 INF2 0 genome.wustl.edu 37 14 105174896 105174896 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 105174896 105174896 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1859 p.R622fs 0.008 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 48 0 0 30 10 25 RIPK3 0 genome.wustl.edu 37 14 24805463 24805463 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 24805463 24805463 G - DEL RIPK3 ENST00000216274 human ensembl 74_37 -1 known frame_shift_del c.1475 p.P492fs 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 143 0 0 114 9 7.31707 EAPP 0 genome.wustl.edu 37 14 34998660 34998660 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 34998660 34998660 T - DEL EAPP ENST00000250454 human ensembl 74_37 -1 known frame_shift_del c.374 p.K125fs 1.000 NULL pfam_E2F-assoc_phosphoprotein - no_errors EAPP HGNC ENSG00000129518 131 0 0 77 7 8.33333 INSM2 0 genome.wustl.edu 37 14 36005057 36005057 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 36005057 36005057 T - DEL INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_del c.1599 p.F535fs 0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 88 0 0 76 5 6.17284 FBXO34 0 genome.wustl.edu 37 14 55817461 55817461 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 55817461 55817461 A - DEL FBXO34 ENST00000313833 human ensembl 74_37 +1 known frame_shift_del c.353 p.I120fs 1.000 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 93 0 0 78 12 13.3333 SNAPC1 0 genome.wustl.edu 37 14 62242911 62242911 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 62242911 62242911 T - DEL SNAPC1 ENST00000216294 human ensembl 74_37 +1 known frame_shift_del c.633 p.F213fs 0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 121 0 0 85 22 20.5607 SYNE2 0 genome.wustl.edu 37 14 64606785 64606785 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 64606785 64606785 T - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.14970 p.F4992fs 0.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 178 0 0 167 23 12.1053 SIPA1L1 0 genome.wustl.edu 37 14 72202008 72202008 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 72202008 72202008 T - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.5086 p.F1697fs 0.979 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 326 0 0 278 35 11.1821 SNW1 0 genome.wustl.edu 37 14 78197430 78197430 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 78197430 78197430 T - DEL SNW1 ENST00000261531 human ensembl 74_37 -1 known frame_shift_del c.934 p.M312fs 1.000 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 192 0 0 184 13 6.59898 PSMC1 0 genome.wustl.edu 37 14 90726465 90726465 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 14 90726465 90726465 A - DEL PSMC1 ENST00000261303 human ensembl 74_37 +1 known frame_shift_del c.64 p.K23fs 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 96 0 0 70 5 6.66667 SNORD116-8 0 genome.wustl.edu 37 15 25315599 25315599 + RNA DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 25315599 25315599 A - DEL SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 221 0 0 174 20 10.3093 FSIP1 0 genome.wustl.edu 37 15 40056054 40056054 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 40056054 40056054 A - DEL FSIP1 ENST00000350221 human ensembl 74_37 -1 known frame_shift_del c.527 p.L176fs 0.993 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 158 0 0 140 16 10.2564 KNSTRN 0 genome.wustl.edu 37 15 40685797 40685799 + Frame_Shift_Del DEL AAG AAG - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 40685797 40685799 AAG - DEL KNSTRN ENST00000249776 human ensembl 74_37 +1 known frame_shift_del c.950_951 p.*317fs 0.989:0.960 NULL NULL - no_errors KNSTRN HGNC ENSG00000128944 100 0 0 91 16 14.9533 ELL3 0 genome.wustl.edu 37 15 44068067 44068069 + In_Frame_Del DEL AAT AAT - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 44068067 44068069 AAT - DEL ELL3 ENST00000319359 human ensembl 74_37 -1 known in_frame_del c.336_334 p.I112in_frame_del 1.000:1.000:0.983 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 115 0 0 99 9 8.33333 PIGB 0 genome.wustl.edu 37 15 55647053 55647053 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 55647053 55647053 A - DEL PIGB ENST00000164305 human ensembl 74_37 +1 known frame_shift_del c.1395 p.S467fs 0.894 NULL pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 58 0 0 49 8 14.0351 SLTM 0 genome.wustl.edu 37 15 59186129 59186129 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 59186129 59186129 T - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1539 p.E514fs 0.997 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 199 0 0 172 19 9.94764 VPS13C 0 genome.wustl.edu 37 15 62244050 62244050 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 62244050 62244050 T - DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.4429 p.I1477fs 0.829 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 132 0 0 117 21 15.2174 ZWILCH 0 genome.wustl.edu 37 15 66820229 66820229 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 66820229 66820229 A - DEL ZWILCH ENST00000307897 human ensembl 74_37 +1 known frame_shift_del c.948 p.D319fs 0.999 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 141 0 0 135 9 6.25 NEO1 0 genome.wustl.edu 37 15 73541965 73541966 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 73541965 73541966 - A INS NEO1 ENST00000261908 human ensembl 74_37 +1 known frame_shift_ins c.1797_1798 p.Y601fs 0.999:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 175 0 0 148 21 12.426 CSK 0 genome.wustl.edu 37 15 75094391 75094393 + In_Frame_Del DEL CTA CTA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 75094391 75094393 CTA - DEL CSK ENST00000220003 human ensembl 74_37 +1 known in_frame_del c.1137_1139 p.Y380in_frame_del 1.000:1.000:1.000 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_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 196 0 0 201 15 6.94444 FAH 0 genome.wustl.edu 37 15 80464493 80464493 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 80464493 80464493 T - DEL FAH ENST00000261755 human ensembl 74_37 +1 known frame_shift_del c.609 p.F205fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 234 0 0 157 12 7.10059 TM6SF1 0 genome.wustl.edu 37 15 83805311 83805312 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 83805311 83805312 - T INS TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_ins c.1009_1010 p.L339fs 0.003:0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 236 0 0 220 24 9.83607 KLHL25 0 genome.wustl.edu 37 15 86311755 86311755 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 15 86311755 86311755 G - DEL KLHL25 ENST00000337975 human ensembl 74_37 -1 known frame_shift_del c.1287 p.L430fs 0.018 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 122 0 0 76 13 14.6067 MYH11 0 genome.wustl.edu 37 16 15841536 15841536 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 15841536 15841536 T - DEL MYH11 ENST00000396324 human ensembl 74_37 -1 known frame_shift_del c.2323 p.I775fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 139 0 0 89 6 6.31579 TMC5 0 genome.wustl.edu 37 16 19501744 19501744 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 19501744 19501744 T - DEL TMC5 ENST00000396229 human ensembl 74_37 +1 known frame_shift_del c.2601 p.R869fs 0.078 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 417 0 0 326 33 9.1922 ENSG00000261457 0 genome.wustl.edu 37 16 31817185 31817186 + RNA INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 31817185 31817186 - A INS ENSG00000261457 ENST00000569756 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.003 - - - no_errors AC002519.6 Clone_based_vega_gene ENSG00000261457 69 0 0 54 10 15.625 SLX4 0 genome.wustl.edu 37 16 3647657 3647657 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 3647657 3647657 G - DEL SLX4 ENST00000294008 human ensembl 74_37 -1 known frame_shift_del c.1406 p.P469fs 0.852 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 210 0 0 151 17 10.119 NKD1 0 genome.wustl.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 50667134 50667135 - C INS NKD1 ENST00000268459 human ensembl 74_37 +1 known frame_shift_ins c.855_856 p.R287fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 95 0 0 97 7 6.73077 CX3CL1 0 genome.wustl.edu 37 16 57416256 57416257 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 57416256 57416257 - C INS CX3CL1 ENST00000006053 human ensembl 74_37 +1 known frame_shift_ins c.506_507 p.T172fs 0.000:0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 90 0 0 68 7 9.33333 CDH8 0 genome.wustl.edu 37 16 61935244 61935244 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 61935244 61935244 T - DEL CDH8 ENST00000577390 human ensembl 74_37 -1 known frame_shift_del c.386 p.K129fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 195 0 0 160 21 11.6022 NOB1 0 genome.wustl.edu 37 16 69782977 69782978 + In_Frame_Ins INS - - TCC TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 69782977 69782978 - TCC INS NOB1 ENST00000268802 human ensembl 74_37 -1 known in_frame_ins c.570_569 p.192in_frame_insE 0.039:0.032 pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 159 0 0 131 7 5.07246 WWP2 0 genome.wustl.edu 37 16 69959368 69959368 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 69959368 69959368 C - DEL WWP2 ENST00000356003 human ensembl 74_37 +1 known frame_shift_del c.1215 p.L407fs 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 775 0 0 504 69 12.0419 PMFBP1 0 genome.wustl.edu 37 16 72153725 72153725 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 72153725 72153725 T - DEL PMFBP1 ENST00000537465 human ensembl 74_37 -1 known frame_shift_del c.3047 p.N1016fs 0.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 98 0 0 76 8 9.52381 ZFHX3 0 genome.wustl.edu 37 16 72991949 72991949 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 72991949 72991949 C - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.2096 p.G699fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 166 0 0 111 16 12.5984 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 24 0 0 21 2 8.69565 GRIN2A 0 genome.wustl.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 16 9857380 9857380 T - DEL GRIN2A ENST00000330684 human ensembl 74_37 -1 known frame_shift_del c.4021 p.S1341fs 0.070 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 158 0 0 120 10 7.69231 DNAH9 0 genome.wustl.edu 37 17 11837319 11837321 + In_Frame_Del DEL AGA AGA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 11837319 11837321 AGA - DEL DNAH9 ENST00000262442 human ensembl 74_37 +1 known in_frame_del c.12420_12422 p.E4141in_frame_del 0.900:1.000:1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 156 0 0 131 14 9.65517 MYO1C 0 genome.wustl.edu 37 17 1374416 1374417 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 1374416 1374417 - G INS MYO1C ENST00000359786 human ensembl 74_37 -1 known frame_shift_ins c.2161_2160 p.K720fs 1.000:0.998 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 103 0 0 66 8 10.8108 CRYBA1 0 genome.wustl.edu 37 17 27581284 27581286 + In_Frame_Del DEL GGA GGA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 27581284 27581286 GGA - DEL CRYBA1 ENST00000225387 human ensembl 74_37 +1 known in_frame_del c.565_567 p.G190in_frame_del 1.000:1.000:1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA1 HGNC ENSG00000108255 257 0 0 196 30 13.2743 GSG2 0 genome.wustl.edu 37 17 3629005 3629005 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 3629005 3629005 T - DEL GSG2 ENST00000325418 human ensembl 74_37 +1 known frame_shift_del c.1776 p.F594fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 250 0 0 197 13 6.19048 P2RX1 0 genome.wustl.edu 37 17 3819462 3819462 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 3819462 3819462 G - DEL P2RX1 ENST00000225538 human ensembl 74_37 -1 known frame_shift_del c.58 p.R20fs 0.997 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 209 0 0 157 11 6.54762 KANSL1 0 genome.wustl.edu 37 17 44248731 44248731 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 44248731 44248731 C - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.779 p.G260fs 0.930 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 226 0 0 175 19 9.79381 TTLL6 0 genome.wustl.edu 37 17 46863659 46863659 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 46863659 46863659 T - DEL TTLL6 ENST00000393382 human ensembl 74_37 -1 known frame_shift_del c.1628 p.K543fs 0.020 NULL pfam_TTL/TTLL_fam - no_errors TTLL6 HGNC ENSG00000170703 760 0 0 621 56 8.27179 PLD2 0 genome.wustl.edu 37 17 4719139 4719139 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 4719139 4719139 G - DEL PLD2 ENST00000263088 human ensembl 74_37 +1 known frame_shift_del c.1365 p.G457fs 0.998 pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_PLipase_D/transphosphatidylase pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 142 0 0 128 9 6.56934 KIF2B 0 genome.wustl.edu 37 17 51902014 51902014 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 51902014 51902014 A - DEL KIF2B ENST00000268919 human ensembl 74_37 +1 known frame_shift_del c.1620 p.K542fs 0.032 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_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 KIF2B HGNC ENSG00000141200 108 0 0 103 10 8.84956 COIL 0 genome.wustl.edu 37 17 55028015 55028016 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 55028015 55028016 - T INS COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_ins c.588_587 p.A197fs 0.024:0.030 NULL NULL - no_errors COIL HGNC ENSG00000121058 322 0 0 272 28 9.33333 ABCA9 0 genome.wustl.edu 37 17 67031441 67031442 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 67031441 67031442 - A INS ABCA9 ENST00000340001 human ensembl 74_37 -1 known frame_shift_ins c.1074_1073 p.L358fs 1.000:0.991 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 118 0 0 78 20 20.4082 NEURL4 0 genome.wustl.edu 37 17 7221879 7221879 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 7221879 7221879 C - DEL NEURL4 ENST00000399464 human ensembl 74_37 -1 known frame_shift_del c.3799 p.V1267fs 0.998 pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 75 0 0 57 10 14.9254 KIAA0195 0 genome.wustl.edu 37 17 73488803 73488804 + Frame_Shift_Del DEL AG AG - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 73488803 73488804 AG - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.1845_1846 p.S617fs 1.000:1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 187 0 0 141 8 5.36913 KIAA0195 0 genome.wustl.edu 37 17 73490986 73490987 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 73490986 73490987 - A INS KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_ins c.2599_2600 p.M869fs 1.000:1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 331 0 0 259 23 8.15603 ITGB4 0 genome.wustl.edu 37 17 73725373 73725373 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 73725373 73725373 C - DEL ITGB4 ENST00000200181 human ensembl 74_37 +1 known frame_shift_del c.594 p.F201fs 0.996 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 106 0 0 84 6 6.66667 TNFSF13 0 genome.wustl.edu 37 17 7462460 7462460 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 7462460 7462460 G - DEL TNFSF13 ENST00000338784 human ensembl 74_37 +1 known frame_shift_del c.104 p.A37fs 1.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF13 HGNC ENSG00000161955 65 0 0 56 7 11.1111 KDM6B 0 genome.wustl.edu 37 17 7755641 7755641 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 17 7755641 7755641 G - DEL KDM6B ENST00000254846 human ensembl 74_37 +1 known frame_shift_del c.4455 p.L1488fs 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 95 0 0 72 9 11.1111 DCC 0 genome.wustl.edu 37 18 50976891 50976892 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 50976891 50976892 - C INS DCC ENST00000442544 human ensembl 74_37 +1 known frame_shift_ins c.3251_3252 p.H1087fs 1.000:1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 DCC HGNC ENSG00000187323 109 0 0 104 8 7.14286 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 192 0 0 179 23 11.3861 CTDP1 0 genome.wustl.edu 37 18 77470348 77470348 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 18 77470348 77470348 T - DEL CTDP1 ENST00000299543 human ensembl 74_37 +1 known frame_shift_del c.775 p.L260fs 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_FCP1_euk pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 558 0 0 431 48 10.0209 ZNF136 0 genome.wustl.edu 37 19 12296931 12296931 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 12296931 12296931 A - DEL ZNF136 ENST00000343979 human ensembl 74_37 +1 known frame_shift_del c.133 p.K46fs 0.002 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 ZNF136 HGNC ENSG00000196646 50 0 0 38 7 15.5556 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 22 0 0 20 6 23.0769 FOXA3 0 genome.wustl.edu 37 19 46375420 46375420 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 46375420 46375420 G - DEL FOXA3 ENST00000302177 human ensembl 74_37 +1 known frame_shift_del c.157 p.L55fs 0.126 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 107 0 0 83 9 9.78261 PPP1R15A 0 genome.wustl.edu 37 19 49377242 49377242 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 49377242 49377242 G - DEL PPP1R15A ENST00000200453 human ensembl 74_37 +1 known frame_shift_del c.752 p.R251fs 0.001 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 108 0 0 73 13 15.1163 NAPSA 0 genome.wustl.edu 37 19 50862305 50862306 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 50862305 50862306 - C INS NAPSA ENST00000253719 human ensembl 74_37 -1 known frame_shift_ins c.998_997 p.V333fs 0.388:0.394 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 152 0 0 115 10 8 ZNF761 0 genome.wustl.edu 37 19 53958012 53958013 + RNA INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 53958012 53958013 - T INS ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.038:0.031 - - - no_errors ZNF761 HGNC ENSG00000160336 164 0 0 143 10 6.53595 NLRP9 0 genome.wustl.edu 37 19 56244406 56244406 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 56244406 56244406 T - DEL NLRP9 ENST00000332836 human ensembl 74_37 -1 known frame_shift_del c.791 p.K264fs 0.000 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 NLRP9 HGNC ENSG00000185792 148 0 0 139 8 5.44218 BSG 0 genome.wustl.edu 37 19 579603 579603 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 579603 579603 G - DEL BSG ENST00000333511 human ensembl 74_37 +1 known frame_shift_del c.519 p.G175fs 0.001 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 75 0 0 63 6 8.69565 INSR 0 genome.wustl.edu 37 19 7119461 7119462 + Frame_Shift_Del DEL CT CT - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 7119461 7119462 CT - DEL INSR ENST00000302850 human ensembl 74_37 -1 known frame_shift_del c.3793_3792 p.R1264fs 0.995:1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 174 0 0 174 13 6.95187 ZNF177 0 genome.wustl.edu 37 19 9490791 9490791 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 19 9490791 9490791 A - DEL ZNF177 ENST00000434737 human ensembl 74_37 +1 known frame_shift_del c.312 p.T106fs 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 108 0 0 97 12 11.0092 SULT1C4 0 genome.wustl.edu 37 2 109002830 109002830 + Splice_Site DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 109002830 109002830 T - DEL SULT1C4 ENST00000272452 human ensembl 74_37 +1 known splice_site_del c.796+2 e6+2 1.000 - - - no_errors SULT1C4 HGNC ENSG00000198075 137 0 0 122 9 6.87023 RIF1 0 genome.wustl.edu 37 2 152321244 152321244 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 152321244 152321244 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.5210 p.K1738fs 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 93 0 0 89 10 10.101 TTC21B 0 genome.wustl.edu 37 2 166771768 166771769 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 166771768 166771769 - T INS TTC21B ENST00000243344 human ensembl 74_37 -1 known frame_shift_ins c.2081_2080 p.M694fs 1.000:1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 228 0 0 207 12 5.47945 TTN 0 genome.wustl.edu 37 2 179579969 179579970 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 179579969 179579970 - T INS TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_ins c.22212_22211 p.P7405fs 0.989:0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-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 230 0 0 174 20 10.3093 ANKRD44 0 genome.wustl.edu 37 2 197990603 197990603 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 197990603 197990603 C - DEL ANKRD44 ENST00000328737 human ensembl 74_37 -1 known frame_shift_del c.345 p.R116fs 0.025 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 219 0 0 175 24 12.0603 CARF 0 genome.wustl.edu 37 2 203848308 203848308 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 203848308 203848308 A - DEL CARF ENST00000320443 human ensembl 74_37 +1 known frame_shift_del c.2139 p.T716fs 0.979 NULL NULL - no_errors CARF HGNC ENSG00000138380 130 0 0 109 8 6.83761 APOB 0 genome.wustl.edu 37 2 21230107 21230108 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 21230107 21230108 - T INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.9633_9632 p.N3211fs 0.997:0.991 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 105 0 0 115 9 7.25806 NYAP2 0 genome.wustl.edu 37 2 226447560 226447560 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 226447560 226447560 C - DEL NYAP2 ENST00000272907 human ensembl 74_37 +1 known frame_shift_del c.1427 p.R478fs 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 79 0 0 50 8 13.7931 UGT1A7 0 genome.wustl.edu 37 2 234590941 234590941 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 234590941 234590941 T - DEL UGT1A7 ENST00000373426 human ensembl 74_37 +1 known frame_shift_del c.358 p.S122fs 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 192 0 0 142 13 8.3871 HDLBP 0 genome.wustl.edu 37 2 242179467 242179467 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 242179467 242179467 C - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.2240 p.G747fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 235 0 0 203 12 5.5814 CCDC88A 0 genome.wustl.edu 37 2 55561622 55561622 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 55561622 55561622 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_del c.2335 p.I779fs 1.000 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 173 0 0 162 21 11.4754 ATP6V1B1 0 genome.wustl.edu 37 2 71187100 71187100 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 71187100 71187100 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.477 p.E161fs 1.000 superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 120 0 0 96 6 5.88235 ATP6V1B1 0 genome.wustl.edu 37 2 71189973 71189974 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 71189973 71189974 - A INS ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_ins c.852_853 p.H285fs 1.000:1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 151 0 0 107 11 9.32203 ALMS1 0 genome.wustl.edu 37 2 73800081 73800081 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 73800081 73800081 A - DEL ALMS1 ENST00000264448 human ensembl 74_37 +1 known frame_shift_del c.11074 p.S3694fs 0.105 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 118 0 0 100 11 9.90991 WBP1 0 genome.wustl.edu 37 2 74687543 74687543 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 74687543 74687543 C - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.545 p.P184fs 0.962 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 251 0 0 230 39 14.4981 LRRTM4 0 genome.wustl.edu 37 2 77745589 77745589 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 77745589 77745589 T - DEL LRRTM4 ENST00000409911 human ensembl 74_37 -1 known frame_shift_del c.1409 p.K470fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 82 0 0 75 10 11.7647 MITD1 0 genome.wustl.edu 37 2 99785844 99785845 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 2 99785844 99785845 - T INS MITD1 ENST00000289359 human ensembl 74_37 -1 known frame_shift_ins c.744_743 p.N248fs 0.995:1.000 NULL pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 91 0 0 63 11 14.8649 STK35 0 genome.wustl.edu 37 20 2083828 2083829 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 2083828 2083829 - C INS STK35 ENST00000381482 human ensembl 74_37 +1 known frame_shift_ins c.709_710 p.E239fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK35 HGNC ENSG00000125834 9 0 0 8 3 27.2727 ASXL1 0 genome.wustl.edu 37 20 31021277 31021277 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 31021277 31021277 A - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.1276 p.K427fs 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 154 0 0 157 16 9.24855 SEMG1 0 genome.wustl.edu 37 20 43836429 43836429 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 43836429 43836429 A - DEL SEMG1 ENST00000372781 human ensembl 74_37 +1 known frame_shift_del c.491 p.R165fs 0.013 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 118 0 0 124 7 5.34351 ZMYND8 0 genome.wustl.edu 37 20 45874790 45874790 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 45874790 45874790 T - DEL ZMYND8 ENST00000536340 human ensembl 74_37 -1 known frame_shift_del c.2267 p.N756fs 0.951 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 300 0 0 225 24 9.63855 NFATC2 0 genome.wustl.edu 37 20 50071134 50071134 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 50071134 50071134 C - DEL NFATC2 ENST00000396009 human ensembl 74_37 -1 known frame_shift_del c.1800 p.Q601fs 0.070 pfam_IPT,superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 263 0 0 203 18 8.1448 SYCP2 0 genome.wustl.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 58490593 58490593 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.526 p.M176fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 169 0 0 164 11 6.28571 PLCB1 0 genome.wustl.edu 37 20 8745986 8745986 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 20 8745986 8745986 A - DEL PLCB1 ENST00000338037 human ensembl 74_37 +1 known frame_shift_del c.2911 p.K972fs 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 87 0 0 92 11 10.6796 N6AMT1 0 genome.wustl.edu 37 21 30250584 30250584 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 30250584 30250584 A - DEL N6AMT1 ENST00000303775 human ensembl 74_37 -1 known frame_shift_del c.468 p.L158fs 0.074 pfam_Small_mtfrase_dom,tigrfam_PrmC_related pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_PrmC_related - no_errors N6AMT1 HGNC ENSG00000156239 216 0 0 171 21 10.9375 KRTAP13-3 0 genome.wustl.edu 37 21 31797925 31797925 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 31797925 31797925 A - DEL KRTAP13-3 ENST00000390690 human ensembl 74_37 -1 known frame_shift_del c.306 p.F102fs 0.014 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 70 0 0 46 10 17.8571 SCAF4 0 genome.wustl.edu 37 21 33073336 33073336 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 33073336 33073336 G - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.749 p.P250fs 0.926 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 111 0 0 99 15 13.1579 DNAJC28 0 genome.wustl.edu 37 21 34860662 34860662 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 34860662 34860662 T - DEL DNAJC28 ENST00000314399 human ensembl 74_37 -1 known frame_shift_del c.1039 p.T347fs 0.548 NULL pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC28 HGNC ENSG00000177692 225 0 0 172 17 8.99471 DYRK1A 0 genome.wustl.edu 37 21 38853058 38853059 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 21 38853058 38853059 - A INS DYRK1A ENST00000398960 human ensembl 74_37 +1 known frame_shift_ins c.446_447 p.N151fs 1.000:0.984 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 DYRK1A HGNC ENSG00000157540 169 0 0 137 14 9.27152 CECR2 0 genome.wustl.edu 37 22 18020337 18020337 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 18020337 18020337 C - DEL CECR2 ENST00000400573 human ensembl 74_37 +1 novel frame_shift_del c.1666 p.T558fs 0.997 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 75 0 0 49 6 10.9091 MMP11 0 genome.wustl.edu 37 22 24123446 24123446 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 24123446 24123446 T - DEL MMP11 ENST00000215743 human ensembl 74_37 +1 known frame_shift_del c.925 p.F310fs 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat 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 171 0 0 116 9 7.2 KREMEN1 0 genome.wustl.edu 37 22 29517407 29517407 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 29517407 29517407 A - DEL KREMEN1 ENST00000327813 human ensembl 74_37 +1 known frame_shift_del c.415 p.T140fs 1.000 pirsf_Kremen,pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 177 0 0 179 12 6.28272 PRR14L 0 genome.wustl.edu 37 22 32108311 32108311 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 32108311 32108311 T - DEL PRR14L ENST00000397493 human ensembl 74_37 -1 known frame_shift_del c.5514 p.K1838fs 1.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 67 0 0 87 6 6.45161 KDELR3 0 genome.wustl.edu 37 22 38877444 38877446 + In_Frame_Del DEL CTT CTT - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 38877444 38877446 CTT - DEL KDELR3 ENST00000409006 human ensembl 74_37 +1 known in_frame_del c.579_581 p.F195in_frame_del 1.000:1.000:1.000 prints_ER_ret_rcpt pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC ENSG00000100196 212 0 0 164 25 13.2275 ATF4 0 genome.wustl.edu 37 22 39917951 39917951 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 39917951 39917951 C - DEL ATF4 ENST00000337304 human ensembl 74_37 +1 known frame_shift_del c.400 p.Q136fs 0.485 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 413 0 0 341 28 7.58808 PNPLA3 0 genome.wustl.edu 37 22 44328952 44328952 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 22 44328952 44328952 C - DEL PNPLA3 ENST00000216180 human ensembl 74_37 +1 known frame_shift_del c.681 p.P229fs 0.164 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 228 0 0 183 10 5.18135 TRMT10C 0 genome.wustl.edu 37 3 101284403 101284403 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 101284403 101284403 A - DEL TRMT10C ENST00000309922 human ensembl 74_37 +1 known frame_shift_del c.778 p.K260fs 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 199 0 0 167 18 9.72973 KIAA1524 0 genome.wustl.edu 37 3 108287039 108287039 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 108287039 108287039 T - DEL KIAA1524 ENST00000295746 human ensembl 74_37 -1 known frame_shift_del c.1236 p.K412fs 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 162 0 0 179 10 5.29101 SPICE1 0 genome.wustl.edu 37 3 113187625 113187625 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 113187625 113187625 T - DEL SPICE1 ENST00000295872 human ensembl 74_37 -1 known frame_shift_del c.873 p.K291fs 0.994 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 93 0 0 93 13 12.2642 STXBP5L 0 genome.wustl.edu 37 3 120764337 120764337 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 120764337 120764337 A - DEL STXBP5L ENST00000273666 human ensembl 74_37 +1 known frame_shift_del c.425 p.R144fs 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 242 0 0 222 17 7.11297 NPHP3 0 genome.wustl.edu 37 3 132431994 132431994 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 132431994 132431994 A - DEL NPHP3 ENST00000337331 human ensembl 74_37 -1 known frame_shift_del c.1094 p.L365fs 1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 87 0 0 61 9 12.8571 COPB2 0 genome.wustl.edu 37 3 139088326 139088326 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 139088326 139088326 T - DEL COPB2 ENST00000333188 human ensembl 74_37 -1 known frame_shift_del c.1266 p.K422fs 0.995 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,superfamily_WD40_repeat_dom pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 107 0 0 105 6 5.40541 C3orf20 0 genome.wustl.edu 37 3 14802989 14802989 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 14802989 14802989 G - DEL C3orf20 ENST00000253697 human ensembl 74_37 +1 known frame_shift_del c.2362 p.K790fs 0.991 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 114 0 0 111 12 9.7561 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 146 0 0 199 12 5.6872 PLCL2 0 genome.wustl.edu 37 3 17053509 17053509 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 17053509 17053509 A - DEL PLCL2 ENST00000418129 human ensembl 74_37 +1 known frame_shift_del c.2293 p.R766fs 0.998 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 176 0 0 171 11 6.04396 ECT2 0 genome.wustl.edu 37 3 172474945 172474945 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 172474945 172474945 A - DEL ECT2 ENST00000427830 human ensembl 74_37 +1 known frame_shift_del c.383 p.G130fs 0.993 superfamily_BRCT_dom pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 175 0 0 263 22 7.7193 MFN1 0 genome.wustl.edu 37 3 179096543 179096543 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 179096543 179096543 T - DEL MFN1 ENST00000263969 human ensembl 74_37 +1 known frame_shift_del c.1603 p.L536fs 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 120 0 0 128 7 5.18519 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 42 0 0 46 5 9.80392 HTR3C 0 genome.wustl.edu 37 3 183776370 183776370 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 183776370 183776370 T - DEL HTR3C ENST00000318351 human ensembl 74_37 +1 known frame_shift_del c.715 p.Y240fs 0.039 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 97 0 0 138 12 8 LIPH 0 genome.wustl.edu 37 3 185237031 185237032 + Frame_Shift_Del DEL CT CT - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 185237031 185237032 CT - DEL LIPH ENST00000296252 human ensembl 74_37 -1 known frame_shift_del c.785_784 p.S262fs 0.031:0.003 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 189 0 0 215 22 9.2827 TBCCD1 0 genome.wustl.edu 37 3 186274566 186274567 + Splice_Site INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 186274566 186274567 - A INS TBCCD1 ENST00000338733 human ensembl 74_37 -1 known splice_site_ins c.493-3_493-2 e3-2 1.000:1.000 - - - no_errors TBCCD1 HGNC ENSG00000113838 85 0 0 102 6 5.55556 CNOT10 0 genome.wustl.edu 37 3 32754743 32754744 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 32754743 32754744 - T INS CNOT10 ENST00000454516 human ensembl 74_37 +1 known frame_shift_ins c.635_636 p.L214fs 1.000:1.000 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 140 0 0 128 10 7.24638 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 177 0 0 148 11 6.91824 CTNNB1 0 genome.wustl.edu 37 3 41268763 41268763 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 41268763 41268763 A - DEL CTNNB1 ENST00000349496 human ensembl 74_37 +1 known frame_shift_del c.1001 p.K335fs 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 181 0 0 134 15 10.0671 RBM15B 0 genome.wustl.edu 37 3 51430462 51430462 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 51430462 51430462 T - DEL RBM15B ENST00000323686 human ensembl 74_37 +1 known frame_shift_del c.1632 p.L546fs 0.992 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 78 0 0 71 6 7.79221 TLR9 0 genome.wustl.edu 37 3 52257754 52257754 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52257754 52257754 C - DEL TLR9 ENST00000597542 human ensembl 74_37 -1 known frame_shift_del c.650 p.G217fs 0.105 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 87 0 0 67 9 11.8421 PBRM1 0 genome.wustl.edu 37 3 52651438 52651438 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 52651438 52651438 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.1658 p.K553fs 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 217 0 0 186 12 6.06061 CACNA1D 0 genome.wustl.edu 37 3 53834368 53834370 + In_Frame_Del DEL AGA AGA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 53834368 53834370 AGA - DEL CACNA1D ENST00000288139 human ensembl 74_37 +1 known in_frame_del c.5076_5078 p.E1695in_frame_del 0.729:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 169 0 0 136 12 8.10811 SLC25A26 0 genome.wustl.edu 37 3 66293635 66293635 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 66293635 66293635 T - DEL SLC25A26 ENST00000354883 human ensembl 74_37 +1 known frame_shift_del c.199 p.F68fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 126 0 0 112 10 8.19672 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 79 0 0 62 8 11.4286 OR5H15 0 genome.wustl.edu 37 3 97887844 97887844 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 3 97887844 97887844 T - DEL OR5H15 ENST00000356526 human ensembl 74_37 +1 known frame_shift_del c.301 p.S103fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 388 0 0 363 51 12.3188 SLC9B2 0 genome.wustl.edu 37 4 103987582 103987582 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 103987582 103987582 T - DEL SLC9B2 ENST00000362026 human ensembl 74_37 -1 known frame_shift_del c.173 p.K58fs 0.005 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 301 0 0 255 21 7.6087 ZNF518B 0 genome.wustl.edu 37 4 10445372 10445372 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 10445372 10445372 T - DEL ZNF518B ENST00000326756 human ensembl 74_37 -1 known frame_shift_del c.2581 p.T861fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 163 0 0 144 11 7.09677 KIAA1109 0 genome.wustl.edu 37 4 123165029 123165029 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 123165029 123165029 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.4763 p.K1590fs 0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 90 0 0 114 14 10.9375 KIAA1109 0 genome.wustl.edu 37 4 123202734 123202735 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 123202734 123202735 - A INS KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_ins c.8842_8843 p.T2950fs 1.000:1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 147 0 0 137 17 11.039 PCDH18 0 genome.wustl.edu 37 4 138450998 138450998 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 138450998 138450998 T - DEL PCDH18 ENST00000344876 human ensembl 74_37 -1 known frame_shift_del c.2245 p.R749fs 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 130 0 0 123 7 5.38462 DCHS2 0 genome.wustl.edu 37 4 155254379 155254379 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 155254379 155254379 G - DEL DCHS2 ENST00000357232 human ensembl 74_37 -1 known frame_shift_del c.1484 p.P495fs 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 109 0 0 99 8 7.47664 DDX60 0 genome.wustl.edu 37 4 169173784 169173785 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 169173784 169173785 - T INS DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_ins c.3581_3580 p.T1194fs 0.004:0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 397 0 0 356 29 7.53247 MTNR1A 0 genome.wustl.edu 37 4 187455155 187455155 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 187455155 187455155 A - DEL MTNR1A ENST00000307161 human ensembl 74_37 -1 known frame_shift_del c.741 p.F247fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 192 0 0 155 14 8.28402 GRK4 0 genome.wustl.edu 37 4 3040188 3040188 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 3040188 3040188 C - DEL GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_del c.1631 p.P545fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 294 0 0 231 13 5.32787 HTT 0 genome.wustl.edu 37 4 3133117 3133117 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 3133117 3133117 A - DEL HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_del c.2091 p.N699fs 0.273 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 83 0 0 88 10 10.2041 ARAP2 0 genome.wustl.edu 37 4 36130292 36130292 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 36130292 36130292 T - DEL ARAP2 ENST00000303965 human ensembl 74_37 -1 known frame_shift_del c.3503 p.K1168fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 121 0 0 128 17 11.7241 KLF3 0 genome.wustl.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 38691476 38691476 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.671 p.P226fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 246 0 0 294 31 9.53846 N4BP2 0 genome.wustl.edu 37 4 40144449 40144449 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 40144449 40144449 A - DEL N4BP2 ENST00000261435 human ensembl 74_37 +1 known frame_shift_del c.4942 p.N1650fs 0.548 pfam_DUF1771 pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 147 0 0 109 10 8.40336 APBB2 0 genome.wustl.edu 37 4 41015678 41015678 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 41015678 41015678 G - DEL APBB2 ENST00000295974 human ensembl 74_37 -1 known frame_shift_del c.757 p.L253fs 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 631 0 0 569 61 9.68254 LIMCH1 0 genome.wustl.edu 37 4 41648209 41648209 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 41648209 41648209 A - DEL LIMCH1 ENST00000503057 human ensembl 74_37 +1 known frame_shift_del c.2323 p.M777fs 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 135 0 0 118 8 6.34921 TMPRSS11A 0 genome.wustl.edu 37 4 68784942 68784942 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 68784942 68784942 T - DEL TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known frame_shift_del c.710 p.N237fs 0.010 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 212 0 0 217 23 9.58333 UGT2B17 0 genome.wustl.edu 37 4 69433932 69433933 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 69433932 69433933 - A INS UGT2B17 ENST00000317746 human ensembl 74_37 -1 known frame_shift_ins c.271_270 p.M90fs 0.000:0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 241 0 0 195 28 12.5561 PROL1 0 genome.wustl.edu 37 4 71275429 71275429 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 71275429 71275429 T - DEL PROL1 ENST00000399575 human ensembl 74_37 +1 putative frame_shift_del c.384 p.L131fs 0.022 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 344 0 0 302 27 8.20669 GPRIN3 0 genome.wustl.edu 37 4 90169649 90169649 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 4 90169649 90169649 T - DEL GPRIN3 ENST00000333209 human ensembl 74_37 -1 known frame_shift_del c.1613 p.K538fs 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 153 0 0 164 12 6.81818 SLCO6A1 0 genome.wustl.edu 37 5 101748695 101748695 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 101748695 101748695 T - DEL SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known frame_shift_del c.1625 p.K542fs 0.982 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 28 0 0 50 9 15.2542 PAM 0 genome.wustl.edu 37 5 102361017 102361017 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 102361017 102361017 A - DEL PAM ENST00000304400 human ensembl 74_37 +1 known frame_shift_del c.2668 p.K891fs 1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 174 0 0 269 18 6.27178 STARD4 0 genome.wustl.edu 37 5 110836670 110836670 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 110836670 110836670 A - DEL STARD4 ENST00000502322 human ensembl 74_37 -1 putative frame_shift_del c.427 p.S143fs 0.011 NULL pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 211 0 0 271 21 7.19178 SRFBP1 0 genome.wustl.edu 37 5 121362798 121362798 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 121362798 121362798 A - DEL SRFBP1 ENST00000339397 human ensembl 74_37 +1 known frame_shift_del c.1267 p.I425fs 1.000 pfam_Bud-site_select_BUD22 pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 76 0 0 127 9 6.61765 ACSL6 0 genome.wustl.edu 37 5 131295281 131295281 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 131295281 131295281 A - DEL ACSL6 ENST00000296869 human ensembl 74_37 -1 known frame_shift_del c.1979 p.L660fs 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 219 0 0 272 20 6.84932 H2AFY 0 genome.wustl.edu 37 5 134679016 134679016 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 134679016 134679016 T - DEL H2AFY ENST00000511689 human ensembl 74_37 -1 known frame_shift_del c.887 p.N296fs 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 253 0 0 318 27 7.82609 DNAH5 0 genome.wustl.edu 37 5 13841160 13841161 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 13841160 13841161 - T INS DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_ins c.5564_5563 p.I1855fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 193 0 0 157 18 10.2857 CNOT6 0 genome.wustl.edu 37 5 179994114 179994114 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 179994114 179994114 T - DEL CNOT6 ENST00000261951 human ensembl 74_37 +1 known frame_shift_del c.744 p.L251fs 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 270 0 0 228 32 12.3077 FLT4 0 genome.wustl.edu 37 5 180047265 180047267 + In_Frame_Del DEL ATG ATG - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 180047265 180047267 ATG - DEL FLT4 ENST00000261937 human ensembl 74_37 -1 known in_frame_del c.2450_2448 p.I816in_frame_del 1.000:1.000:1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 177 0 0 133 12 8.27586 ANKRD55 0 genome.wustl.edu 37 5 55407516 55407517 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 55407516 55407517 - T INS ANKRD55 ENST00000341048 human ensembl 74_37 -1 known frame_shift_ins c.1059_1058 p.N353fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 435 0 0 384 33 7.91367 IPO11 0 genome.wustl.edu 37 5 61847115 61847115 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 61847115 61847115 T - DEL IPO11 ENST00000409296 human ensembl 74_37 +1 known frame_shift_del c.2532 p.S847fs 0.988 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 240 0 0 202 21 9.41704 AP3B1 0 genome.wustl.edu 37 5 77424993 77424993 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 77424993 77424993 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.1789 p.I597fs 1.000 superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 118 0 0 112 10 8.19672 CMYA5 0 genome.wustl.edu 37 5 79027420 79027420 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 79027420 79027420 T - DEL CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_del c.2832 p.S946fs 0.917 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 203 0 0 175 12 6.41711 ZCCHC9 0 genome.wustl.edu 37 5 80600661 80600661 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 80600661 80600661 T - DEL ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known frame_shift_del c.85 p.F29fs 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 136 0 0 120 10 7.69231 POLR3G 0 genome.wustl.edu 37 5 89797794 89797794 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 5 89797794 89797794 A - DEL POLR3G ENST00000399107 human ensembl 74_37 +1 known frame_shift_del c.427 p.M145fs 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC ENSG00000113356 51 0 0 31 5 13.8889 CEP85L 0 genome.wustl.edu 37 6 118803034 118803034 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 118803034 118803034 T - DEL CEP85L ENST00000368488 human ensembl 74_37 -1 known frame_shift_del c.1662 p.K554fs 0.075 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 60 0 0 52 7 11.8644 FAM184A 0 genome.wustl.edu 37 6 119324113 119324113 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 119324113 119324113 T - DEL FAM184A ENST00000338891 human ensembl 74_37 -1 known frame_shift_del c.2039 p.N680fs 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 309 0 0 276 17 5.80205 EYA4 0 genome.wustl.edu 37 6 133804207 133804207 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 133804207 133804207 T - DEL EYA4 ENST00000355167 human ensembl 74_37 +1 known frame_shift_del c.1145 p.H384fs 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 167 0 0 142 13 8.3871 AHI1 0 genome.wustl.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 135784283 135784284 - T INS AHI1 ENST00000265602 human ensembl 74_37 -1 known frame_shift_ins c.911_910 p.T304fs 0.016:0.034 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 121 0 0 110 13 10.5691 SYNE1 0 genome.wustl.edu 37 6 152534877 152534877 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 152534877 152534877 A - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_del c.22364 p.L7455fs 1.000 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 213 0 0 171 20 10.4712 KIF13A 0 genome.wustl.edu 37 6 17788023 17788023 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 17788023 17788023 T - DEL KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_del c.3345 p.V1116fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 239 0 0 219 34 13.4387 DEF6 0 genome.wustl.edu 37 6 35280184 35280184 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 35280184 35280184 G - DEL DEF6 ENST00000316637 human ensembl 74_37 +1 known frame_shift_del c.529 p.L179fs 0.044 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 130 0 0 111 6 5.12821 CDC5L 0 genome.wustl.edu 37 6 44371563 44371563 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 44371563 44371563 A - DEL CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_del c.557 p.R188fs 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 99 0 0 97 9 8.49057 GSTA3 0 genome.wustl.edu 37 6 52764820 52764822 + In_Frame_Del DEL AGA AGA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 52764820 52764822 AGA - DEL GSTA3 ENST00000211122 human ensembl 74_37 -1 known in_frame_del c.326_324 p.L109in_frame_del 0.001:0.000:0.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 290 0 0 254 22 7.97101 PHF3 0 genome.wustl.edu 37 6 64401760 64401760 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 64401760 64401760 A - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.2323 p.K776fs 1.000 superfamily_Znf_FYVE_PHD pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 186 0 0 195 15 7.14286 PHIP 0 genome.wustl.edu 37 6 79727105 79727106 + Splice_Site DEL TA TA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 79727105 79727106 TA - DEL PHIP ENST00000275034 human ensembl 74_37 -1 known splice_site_del c.1096-3_1096-2 e12-2 1.000:0.852 - - - no_errors PHIP HGNC ENSG00000146247 90 0 0 77 6 7.22892 SH3BGRL2 0 genome.wustl.edu 37 6 80383443 80383444 + Frame_Shift_Ins INS - - C TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 80383443 80383444 - C INS SH3BGRL2 ENST00000369838 human ensembl 74_37 +1 known frame_shift_ins c.158_159 p.E56fs 0.942:0.731 pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL2 HGNC ENSG00000198478 187 0 0 145 17 10.4938 TTK 0 genome.wustl.edu 37 6 80751910 80751910 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 80751910 80751910 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2565 p.K857fs 0.011 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 135 0 0 109 12 9.91736 IBTK 0 genome.wustl.edu 37 6 82904289 82904289 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 82904289 82904289 T - DEL IBTK ENST00000306270 human ensembl 74_37 -1 known frame_shift_del c.3245 p.K1082fs 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 115 0 0 99 12 10.8108 CYB5R4 0 genome.wustl.edu 37 6 84634231 84634231 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 6 84634231 84634231 A - DEL CYB5R4 ENST00000369681 human ensembl 74_37 +1 known frame_shift_del c.734 p.E248fs 0.868 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 218 0 0 199 20 9.13242 CUX1 0 genome.wustl.edu 37 7 101844917 101844917 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 101844917 101844917 C - DEL CUX1 ENST00000360264 human ensembl 74_37 +1 known frame_shift_del c.2373 p.P793fs 0.983 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 110 0 0 109 8 6.83761 CTTNBP2 0 genome.wustl.edu 37 7 117364693 117364694 + Frame_Shift_Del DEL CT CT - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 117364693 117364694 CT - DEL CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known frame_shift_del c.4355_4354 p.S1452fs 0.520:0.743 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 110 0 0 107 10 8.54701 GRM8 0 genome.wustl.edu 37 7 126173278 126173278 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 126173278 126173278 G - DEL GRM8 ENST00000339582 human ensembl 74_37 -1 known frame_shift_del c.2158 p.H720fs 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 52 0 0 71 8 10.1266 IRF5 0 genome.wustl.edu 37 7 128588360 128588362 + In_Frame_Del DEL AGA AGA - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 128588360 128588362 AGA - DEL IRF5 ENST00000357234 human ensembl 74_37 +1 known in_frame_del c.1277_1279 p.K428in_frame_del 1.000:1.000:1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 210 0 0 149 9 5.6962 NUB1 0 genome.wustl.edu 37 7 151064135 151064135 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 151064135 151064135 A - DEL NUB1 ENST00000568733 human ensembl 74_37 +1 known frame_shift_del c.983 p.K330fs 0.964 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 88 0 0 68 7 9.33333 RAPGEF5 0 genome.wustl.edu 37 7 22197474 22197474 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 22197474 22197474 T - DEL RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known frame_shift_del c.1097 p.K366fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 102 0 0 71 4 5.33333 FAM126A 0 genome.wustl.edu 37 7 23023639 23023639 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 23023639 23023639 T - DEL FAM126A ENST00000432176 human ensembl 74_37 -1 known frame_shift_del c.77 p.N26fs 0.996 pfam_Hyccin pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 114 0 0 69 10 12.6582 CARD11 0 genome.wustl.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 2968323 2968323 G - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.1663 p.R555fs 0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 108 0 0 64 6 8.57143 NPC1L1 0 genome.wustl.edu 37 7 44561375 44561376 + Frame_Shift_Ins INS - - GG TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 44561375 44561376 - GG INS NPC1L1 ENST00000289547 human ensembl 74_37 -1 known frame_shift_ins c.2889_2888 p.S964fs 0.001:0.816 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 61 0 0 62 8 11.4286 IGFBP1 0 genome.wustl.edu 37 7 45932646 45932647 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 45932646 45932647 - G INS IGFBP1 ENST00000275525 human ensembl 74_37 +1 known frame_shift_ins c.736_737 p.D248fs 0.005:0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 101 0 0 110 9 7.56303 FIGNL1 0 genome.wustl.edu 37 7 50514060 50514060 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 50514060 50514060 T - DEL FIGNL1 ENST00000356889 human ensembl 74_37 -1 known frame_shift_del c.926 p.K309fs 0.976 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 161 0 0 126 13 9.35252 ZNF716 0 genome.wustl.edu 37 7 57528542 57528542 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 57528542 57528542 A - DEL ZNF716 ENST00000420713 human ensembl 74_37 +1 known frame_shift_del c.375 p.K127fs 0.128 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 ZNF716 HGNC ENSG00000182111 103 0 0 107 7 6.14035 SAMD9L 0 genome.wustl.edu 37 7 92762978 92762979 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 92762978 92762979 - T INS SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_ins c.2307_2306 p.N769fs 1.000:1.000 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 351 0 0 315 20 5.97015 SAMD9L 0 genome.wustl.edu 37 7 92763654 92763654 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 92763654 92763654 A - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.1631 p.L544fs 0.924 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 148 0 0 133 14 9.52381 STAG3 0 genome.wustl.edu 37 7 99802719 99802719 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 7 99802719 99802719 T - DEL STAG3 ENST00000317296 human ensembl 74_37 +1 known frame_shift_del c.3043 p.S1016fs 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 420 0 0 324 30 8.47458 UBR5 0 genome.wustl.edu 37 8 103306223 103306224 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 103306223 103306224 - A INS UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_ins c.4309_4308 p.V1436fs 1.000:1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 131 0 0 149 10 6.28931 ATAD2 0 genome.wustl.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 124384893 124384893 T - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.354 p.E119fs 0.995 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 244 0 0 217 17 7.26496 ANXA13 0 genome.wustl.edu 37 8 124707761 124707762 + Frame_Shift_Ins INS - - T TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 124707761 124707762 - T INS ANXA13 ENST00000262219 human ensembl 74_37 -1 known frame_shift_ins c.575_574 p.I192fs 0.999:0.994 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 371 0 0 369 33 8.20896 TG 0 genome.wustl.edu 37 8 133975278 133975279 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 133975278 133975279 - A INS TG ENST00000220616 human ensembl 74_37 +1 known frame_shift_ins c.5507_5508 p.D1838fs 0.000:0.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 464 0 0 486 29 5.63107 PTK2 0 genome.wustl.edu 37 8 141813659 141813659 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 141813659 141813659 T - DEL PTK2 ENST00000395218 human ensembl 74_37 -1 known frame_shift_del c.958 p.I320fs 0.999 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 133 0 0 151 12 7.36196 HR 0 genome.wustl.edu 37 8 21984903 21984903 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 21984903 21984903 C - DEL HR ENST00000381418 human ensembl 74_37 -1 known frame_shift_del c.1052 p.G351fs 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 135 0 0 131 20 13.245 ADAM7 0 genome.wustl.edu 37 8 24350675 24350675 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 24350675 24350675 T - DEL ADAM7 ENST00000175238 human ensembl 74_37 +1 known frame_shift_del c.1775 p.L594fs 0.006 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 107 0 0 120 7 5.51181 TEX15 0 genome.wustl.edu 37 8 30699858 30699858 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 30699858 30699858 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.6676 p.M2226fs 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 285 0 0 333 23 6.46067 C8orf22 0 genome.wustl.edu 37 8 49986834 49986834 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 49986834 49986834 T - DEL C8orf22 ENST00000303202 human ensembl 74_37 +1 known frame_shift_del c.175 p.F60fs 0.915 NULL NULL - no_errors C8orf22 HGNC ENSG00000168333 110 0 0 126 8 5.97015 ANGPT2 0 genome.wustl.edu 37 8 6378798 6378798 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 6378798 6378798 T - DEL ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_del c.700 p.I234fs 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 234 0 0 228 16 6.55738 ARFGEF1 0 genome.wustl.edu 37 8 68140284 68140284 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 68140284 68140284 T - DEL ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_del c.3505 p.I1169fs 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 ARFGEF1 HGNC ENSG00000066777 101 0 0 117 10 7.87402 SLC7A13 0 genome.wustl.edu 37 8 87229784 87229784 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 87229784 87229784 A - DEL SLC7A13 ENST00000297524 human ensembl 74_37 -1 known frame_shift_del c.1094 p.F365fs 0.003 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 90 0 0 110 13 10.5691 NBN 0 genome.wustl.edu 37 8 90967512 90967512 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 8 90967512 90967512 T - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.1396 p.R466fs 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 227 0 0 291 16 5.21173 MSANTD3 0 genome.wustl.edu 37 9 103204464 103204464 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 103204464 103204464 A - DEL MSANTD3 ENST00000395067 human ensembl 74_37 +1 known frame_shift_del c.244 p.I84fs 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 49 0 0 48 7 12.7273 SMC2 0 genome.wustl.edu 37 9 106882440 106882440 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 106882440 106882440 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2129 p.K711fs 1.000 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 214 0 0 192 16 7.69231 OR13C2 0 genome.wustl.edu 37 9 107366985 107366985 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 107366985 107366985 T - DEL OR13C2 ENST00000542196 human ensembl 74_37 -1 known frame_shift_del c.924 p.K308fs 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 419 0 0 387 51 11.6438 KIAA0368 0 genome.wustl.edu 37 9 114140903 114140904 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 114140903 114140904 - G INS KIAA0368 ENST00000259335 human ensembl 74_37 -1 known frame_shift_ins c.4445_4444 p.Q1482fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 124 0 0 133 13 8.90411 PRPF4 0 genome.wustl.edu 37 9 116044975 116044975 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 116044975 116044975 A - DEL PRPF4 ENST00000374198 human ensembl 74_37 +1 known frame_shift_del c.445 p.K150fs 1.000 smart_SFM pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 86 0 0 92 8 8 PAPPA 0 genome.wustl.edu 37 9 118949475 118949475 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 118949475 118949475 G - DEL PAPPA ENST00000328252 human ensembl 74_37 +1 known frame_shift_del c.458 p.V154fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 120 0 0 92 11 10.6796 C5 0 genome.wustl.edu 37 9 123751934 123751934 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 123751934 123751934 A - DEL C5 ENST00000223642 human ensembl 74_37 -1 known frame_shift_del c.3066 p.H1023fs 0.867 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 95 0 0 82 7 7.86517 CRAT 0 genome.wustl.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 131864814 131864814 C - DEL CRAT ENST00000318080 human ensembl 74_37 -1 known frame_shift_del c.495 p.K166fs 0.127 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 474 0 0 350 20 5.40541 ENTPD2 0 genome.wustl.edu 37 9 139945517 139945517 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 139945517 139945517 C - DEL ENTPD2 ENST00000355097 human ensembl 74_37 -1 known frame_shift_del c.611 p.G204fs 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 144 0 0 94 11 10.4762 KIAA0020 0 genome.wustl.edu 37 9 2827084 2827085 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 2827084 2827085 - G INS KIAA0020 ENST00000397885 human ensembl 74_37 -1 known frame_shift_ins c.1024_1023 p.K341fs 1.000:0.999 superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 97 0 0 71 6 7.79221 RUSC2 0 genome.wustl.edu 37 9 35547974 35547974 + Frame_Shift_Del DEL C C - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 35547974 35547974 C - DEL RUSC2 ENST00000361226 human ensembl 74_37 +1 known frame_shift_del c.1456 p.N488fs 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 172 0 0 145 13 8.22785 ZCCHC6 0 genome.wustl.edu 37 9 88967954 88967954 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 9 88967954 88967954 T - DEL ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_del c.161 p.K54fs 0.987 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 358 0 0 321 36 10.084 CENPI 0 genome.wustl.edu 37 X 100403062 100403062 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 100403062 100403062 A - DEL CENPI ENST00000372927 human ensembl 74_37 +1 known frame_shift_del c.2006 p.T671fs 0.017 NULL pfam_CENP-I - no_errors CENPI HGNC ENSG00000102384 415 0 0 311 23 6.88623 CXorf57 0 genome.wustl.edu 37 X 105881026 105881027 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 105881026 105881027 - A INS CXorf57 ENST00000372548 human ensembl 74_37 +1 known frame_shift_ins c.1445_1446 p.N484fs 1.000:0.987 NULL superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 199 0 0 161 14 8 AGTR2 0 genome.wustl.edu 37 X 115303748 115303748 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 115303748 115303748 A - DEL AGTR2 ENST00000371906 human ensembl 74_37 +1 known frame_shift_del c.215 p.K73fs 0.685 pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 428 0 0 390 39 9.09091 IGSF1 0 genome.wustl.edu 37 X 130411114 130411114 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 130411114 130411114 G - DEL IGSF1 ENST00000370903 human ensembl 74_37 -1 known frame_shift_del c.2422 p.H808fs 0.003 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 324 0 0 278 40 12.5786 GPR112 0 genome.wustl.edu 37 X 135426885 135426886 + Frame_Shift_Ins INS - - A TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 135426885 135426886 - A INS GPR112 ENST00000370652 human ensembl 74_37 +1 known frame_shift_ins c.1020_1021 p.T342fs 0.005:0.009 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 209 0 0 180 11 5.75916 DNASE1L1 0 genome.wustl.edu 37 X 153631309 153631310 + Frame_Shift_Ins INS - - G TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 153631309 153631310 - G INS DNASE1L1 ENST00000014935 human ensembl 74_37 -1 known frame_shift_ins c.748_747 p.T249fs 0.000:0.005 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L1 HGNC ENSG00000013563 85 0 0 67 5 6.94444 ZFX 0 genome.wustl.edu 37 X 24229134 24229134 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 24229134 24229134 A - DEL ZFX ENST00000540034 human ensembl 74_37 +1 known frame_shift_del c.2176 p.M728fs 1.000 pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 324 0 0 259 23 8.15603 TEX11 0 genome.wustl.edu 37 X 70127618 70127618 + Frame_Shift_Del DEL A A - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70127618 70127618 A - DEL TEX11 ENST00000374333 human ensembl 74_37 -1 known frame_shift_del c.22 p.S8fs 0.008 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 126 0 0 87 6 6.45161 OGT 0 genome.wustl.edu 37 X 70782825 70782825 + Frame_Shift_Del DEL T T - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 70782825 70782825 T - DEL OGT ENST00000373719 human ensembl 74_37 +1 known frame_shift_del c.2106 p.F704fs 0.995 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 260 0 0 251 28 10.0358 MAGEE2 0 genome.wustl.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - TCGA-B7-5816-01A-21D-1600-08 TCGA-B7-5816-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7 a2c1f792-39dd-4c35-8868-4be46623e3f0 X 75004754 75004754 G - DEL MAGEE2 ENST00000373359 human ensembl 74_37 -1 known frame_shift_del c.133 p.Q45fs 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 109 0 0 86 6 6.52174